Variant report

Variant	nsv1047265
Chromosome Location	chr13:53173013-53311419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2988)
CpG islands
(count:2504)
Chromatin interactive
region (count:103)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2988 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53226074-53226510	K562	blood:	n/a	n/a
2	ARID3A	chr13:53174512-53174657	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:53191307-53191780	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:53183538-53183768	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:53191399-53191692	K562	blood:	n/a	n/a
6	ARID3A	chr13:53281748-53281815	K562	blood:	n/a	n/a
7	ARID3A	chr13:53225820-53227820	HepG2	liver:	n/a	n/a
8	ARID3A	chr13:53227358-53227742	K562	blood:	n/a	n/a
9	ATF2	chr13:53302565-53303383	GM12878	blood:	n/a	n/a
10	ATF2	chr13:53269894-53270461	GM12878	blood:	n/a	n/a
11	ATF2	chr13:53191283-53191848	GM12878	blood:	n/a	n/a
12	ATF2	chr13:53234609-53235197	GM12878	blood:	n/a	n/a
13	ATF2	chr13:53225985-53227257	GM12878	blood:	n/a	n/a
14	ATF2	chr13:53225975-53227221	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr13:53226814-53227262	GM12878	blood:	n/a	n/a
16	ATF2	chr13:53226050-53227280	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr13:53191325-53191749	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr13:53269953-53270338	GM12878	blood:	n/a	n/a
19	ATF2	chr13:53302572-53303174	GM12878	blood:	n/a	n/a
20	ATF2	chr13:53191356-53191832	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr13:53226134-53226714	GM12878	blood:	n/a	n/a
22	ATF2	chr13:53191240-53191855	GM12878	blood:	n/a	n/a
23	ATF3	chr13:53190031-53190175	K562	blood:	n/a	n/a
24	ATF3	chr13:53191426-53191696	A549	lung:	n/a	n/a
25	ATF3	chr13:53191222-53191681	K562	blood:	n/a	n/a
26	ATF3	chr13:53191126-53191583	A549	lung:	n/a	n/a
27	ATF3	chr13:53190868-53191269	A549	lung:	n/a	n/a
28	ATF3	chr13:53226741-53227206	A549	lung:	n/a	n/a
29	BACH1	chr13:53191461-53191869	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr13:53226351-53227106	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr13:53174341-53174515	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr13:53269992-53270317	GM12878	blood:	n/a	n/a
33	BATF	chr13:53269961-53270417	GM12878	blood:	n/a	n/a
34	BATF	chr13:53226784-53227143	GM12878	blood:	n/a	n/a
35	BATF	chr13:53234688-53235063	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
36	BATF	chr13:53191419-53191784	GM12878	blood:	n/a	n/a
37	BATF	chr13:53197949-53198190	GM12878	blood:	n/a	n/a
38	BATF	chr13:53205194-53205499	GM12878	blood:	n/a	n/a
39	BATF	chr13:53234657-53235121	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
40	BCL11A	chr13:53234704-53235134	GM12878	blood:	n/a	chr13:53234911-53234920 chr13:53234912-53234921
41	BCL11A	chr13:53308543-53308697	GM12878	blood:	n/a	n/a
42	BCL11A	chr13:53302775-53303053	GM12878	blood:	n/a	chr13:53302959-53302968
43	BCL11A	chr13:53198011-53198210	GM12878	blood:	n/a	n/a
44	BCL3	chr13:53226251-53227187	GM12878	blood:	n/a	chr13:53226369-53226378
45	BCL3	chr13:53226064-53226761	A549	lung:	n/a	chr13:53226369-53226378
46	BCL3	chr13:53191278-53191797	A549	lung:	n/a	n/a
47	BCL3	chr13:53302542-53303165	GM12878	blood:	n/a	chr13:53302959-53302968
48	BCL3	chr13:53269920-53270452	GM12878	blood:	n/a	n/a
49	BCL3	chr13:53258541-53258847	GM12878	blood:	n/a	n/a
50	BCLAF1	chr13:53191315-53191849	K562	blood:	n/a	n/a

(count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53223253-53223303	HepG2	liver:	n/a
2	chr13:53191763-53191813	HL-60	blood:	n/a
3	chr13:53176723-53176773	T-47D	breast:	n/a
4	chr13:53223253-53223303	HepG2	liver:	n/a
5	chr13:53191763-53191813	HL-60	blood:	n/a
6	chr13:53176723-53176773	T-47D	breast:	n/a
7	chr13:53226688-53226738	SK-N-MC	brain:	n/a
8	chr13:53226751-53226801	SAEC	small airway:	n/a
9	chr13:53311316-53311366	GM12892	blood:	n/a
10	chr13:53174818-53174868	SAEC	small airway:	n/a
11	chr13:53174588-53174638	HL-60	blood:	n/a
12	chr13:53226650-53226700	SAEC	small airway:	n/a
13	chr13:53226810-53226860	HRPEpiC	eye:	n/a
14	chr13:53191643-53191693	HPAEpiC	pulmonary alveolar:	n/a
15	chr13:53174319-53174369	HIPEpiC	eye:	n/a
16	chr13:53229659-53229709	PrEC	prostate:	n/a
17	chr13:53174319-53174369	AG04450	lung:	fetal
18	chr13:53226144-53226194	BJ	skin:	n/a
19	chr13:53174042-53174092	AG04450	lung:	fetal
20	chr13:53191308-53191358	HIPEpiC	eye:	n/a
21	chr13:53310543-53310593	SAEC	small airway:	n/a
22	chr13:53287193-53287243	ECC-1	luminal epithelium:	n/a
23	chr13:53226144-53226194	Hepatocyte	liver:	n/a
24	chr13:53194212-53194262	HCF	heart:	n/a
25	chr13:53226751-53226801	AG09319	gingival:	n/a
26	chr13:53302900-53302950	NT2-D1	testis:	n/a
27	chr13:53226144-53226194	NH-A	brain:	n/a
28	chr13:53226935-53226985	U87	brain:	n/a
29	chr13:53226751-53226801	AoSMC	blood vessel:	n/a
30	chr13:53226144-53226194	SK-N-MC	brain:	n/a
31	chr13:53191308-53191358	NHBE	bronchial:	n/a
32	chr13:53191547-53191597	HL-60	blood:	n/a
33	chr13:53176723-53176773	HPAEpiC	pulmonary alveolar:	n/a
34	chr13:53191387-53191437	HCPEpiC	choroid plexus:	n/a
35	chr13:53226650-53226700	NB4	blood:	n/a
36	chr13:53226396-53226446	HAEpiC	amniotic membrane:	n/a
37	chr13:53191491-53191541	GM12878	blood:	n/a
38	chr13:53191547-53191597	NB4	blood:	n/a
39	chr13:53277872-53277922	SAEC	small airway:	n/a
40	chr13:53191537-53191587	ECC-1	luminal epithelium:	n/a
41	chr13:53287193-53287243	HL-60	blood:	n/a
42	chr13:53191491-53191541	RPTEC	kidney:	n/a
43	chr13:53176723-53176773	IMR90	lung:	fetal
44	chr13:53174042-53174092	SK-N-MC	brain:	n/a
45	chr13:53191763-53191813	GM19239	blood:	n/a
46	chr13:53226751-53226801	Hepatocyte	liver:	n/a
47	chr13:53191491-53191541	ovcar-3	ovarian:	n/a
48	chr13:53262275-53262325	BE2_C	brain:	n/a
49	chr13:53226935-53226985	SK-N-MC	brain:	n/a
50	chr13:53191541-53191591	Hepatocyte	liver:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
2	chr13:53226555..53228977-chr13:53419370..53422779,3	MCF-7	breast:
3	chr13:53264710..53266234-chr13:53267984..53269930,2	K562	blood:
4	chr13:53239392..53240181-chr13:53383142..53383847,3	K562	blood:
5	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
6	chr13:53201490..53204133-chr13:53204662..53206494,2	K562	blood:
7	chr13:53225756..53229849-chr13:53255678..53259863,4	K562	blood:
8	chr13:53258335..53260690-chr13:53267146..53270145,2	K562	blood:
9	chr13:53243686..53244543-chr13:53383170..53383730,2	MCF-7	breast:
10	chr13:53222466..53224442-chr5:58866400..58869361,2	MCF-7	breast:
11	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:
12	chr13:53190930..53191973-chr13:53226605..53227465,3	MCF-7	breast:
13	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
14	chr13:53215652..53217319-chr13:53217527..53219580,2	K562	blood:
15	chr13:53217144..53219904-chr13:53245859..53248065,2	K562	blood:
16	chr13:53199898..53201820-chr13:53204717..53207641,2	K562	blood:
17	chr13:53186017..53187839-chr13:53226485..53228736,2	MCF-7	breast:
18	chr13:53197627..53200441-chr13:53224440..53227074,2	K562	blood:
19	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
20	chr13:53238687..53240830-chr13:53246472..53248084,2	K562	blood:
21	chr13:53253633..53256352-chr13:53264459..53267100,2	K562	blood:
22	chr13:53225240..53227958-chr13:53243712..53245830,4	MCF-7	breast:
23	chr13:53222599..53224957-chr13:53225140..53227476,2	MCF-7	breast:
24	chr13:53226272..53226795-chr9:130213363..130214026,2	Hela-S3	cervix:
25	chr13:53253633..53256352-chr13:53264459..53267100,2	K562	blood:
26	chr13:53239569..53240100-chr13:53542246..53542777,2	MCF-7	breast:
27	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
28	chr13:53225243..53228242-chr13:53242016..53244044,2	K562	blood:
29	chr13:53223315..53224976-chr13:53225042..53226635,2	MCF-7	breast:
30	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
31	chr13:53310781..53313187-chr13:53316567..53319461,2	K562	blood:
32	chr13:53225894..53226531-chr17:37356466..37357068,2	Hela-S3	cervix:
33	chr13:53215104..53218356-chr13:53226198..53228845,3	K562	blood:
34	chr13:53023588..53025754-chr13:53225469..53228375,2	K562	blood:
35	chr13:53199898..53201820-chr13:53204717..53207641,2	K562	blood:
36	chr13:53225208..53228349-chr13:53233022..53236240,3	MCF-7	breast:
37	chr13:53213837..53216389-chr13:53220135..53222271,3	MCF-7	breast:
38	chr13:53207158..53209023-chr13:53213230..53214955,2	K562	blood:
39	chr13:53225429..53228125-chr13:53249748..53252503,2	K562	blood:
40	chr13:53305786..53308758-chr13:53309005..53310904,2	MCF-7	breast:
41	chr13:53224982..53228384-chr13:53228728..53231432,4	MCF-7	breast:
42	chr13:53226412..53226945-chr3:49044645..49045264,2	NB4	blood:
43	chr13:53212411..53216541-chr13:53222004..53227678,9	MCF-7	breast:
44	chr13:53258335..53260690-chr13:53267146..53270145,2	K562	blood:
45	chr13:53213837..53216389-chr13:53220135..53222271,3	MCF-7	breast:
46	chr13:53190401..53192261-chr13:53196338..53199090,3	MCF-7	breast:
47	chr13:53189836..53192500-chr13:53230172..53233036,2	MCF-7	breast:
48	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
49	chr13:53174054..53174958-chr19:10443932..10444611,2	NB4	blood:
50	chr13:53224978..53226990-chr13:53228538..53230791,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUGT1-2	chr13:53206555-53206624	NONHSAT033997
2	lnc-SUGT1-2	chr13:53203352-53203490	NONHSAT033997
3	lnc-LECT1-1	chr13:53263722-53263958	ENSG00000248190
4	lnc-SUGT1-2	chr13:53196121-53196400	NONHSAT033997
5	lnc-SUGT1-2	chr13:53201575-53201710	NONHSAT033997
6	lnc-SUGT1-2	chr13:53191693-53191840	NONHSAT033997
7	lnc-SUGT1-2	chr13:53211436-53211581	NONHSAT033997
8	lnc-LECT1-1	chr13:53268955-53274883	ENSG00000248190

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPA1L2	hsa-miR-1	chr13:53217806-53217827
2	SUGT1	hsa-miR-34a-5p	chr13:53232568-53232590

Variant related genes	Relation type
HNRNPA1L2	TF binding region
MRPS31P4	TF binding region
SUGT1	TF binding region
HNRNPA1L2	CpG island
MRPS31P4	CpG island
SUGT1	CpG island
ENSG00000108298	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000139675	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000136099	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000183397	chromatin interactions
ENSG00000165416	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000211579	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000136100	chromatin interactions
EZH2	miRNA target sites
STXBP1	miRNA target sites

Extended variants
information (count: 5069 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:5069 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571718032	chr13:53173031-53173032	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs527756240	chr13:53173143-53173144	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs142335521	chr13:53173170-53173171	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182246137	chr13:53173212-53173213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs536575206	chr13:53173214-53173215	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556434231	chr13:53173217-53173218	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs144899159	chr13:53173333-53173334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs538854665	chr13:53173361-53173362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs571171145	chr13:53173410-53173411	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs564110511	chr13:53173411-53173412	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs59931078	chr13:53173425-53173426	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs9526949	chr13:53173487-53173488	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs9536183	chr13:53173524-53173525	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs539939427	chr13:53173579-53173580	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs9536184	chr13:53173587-53173588	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs573678635	chr13:53173626-53173627	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs542986407	chr13:53173701-53173702	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs553541589	chr13:53173739-53173740	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs73186413	chr13:53173740-53173741	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs138742261	chr13:53173779-53173780	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs532212936	chr13:53173820-53173821	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs573160997	chr13:53173825-53173826	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs542176858	chr13:53173864-53173865	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs561986736	chr13:53173896-53173897	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs183688380	chr13:53173897-53173898	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530082664	chr13:53173910-53173911	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs564896357	chr13:53173912-53173913	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs527820859	chr13:53174038-53174039	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112900159	chr13:53174088-53174089	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs560993145	chr13:53174138-53174139	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs530026537	chr13:53174139-53174140	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs549722475	chr13:53174142-53174143	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs570016126	chr13:53174186-53174187	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs538932837	chr13:53174239-53174240	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs555409420	chr13:53174325-53174326	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs112530338	chr13:53174420-53174421	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs566122994	chr13:53174449-53174450	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs9526950	chr13:53174463-53174464	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs553578235	chr13:53174502-53174503	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs112042623	chr13:53174548-53174549	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs113782892	chr13:53174557-53174558	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs556167953	chr13:53174563-53174564	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs149596556	chr13:53174591-53174592	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs74087350	chr13:53174659-53174660	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565116455	chr13:53174694-53174695	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs12871242	chr13:53174711-53174712	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs181230509	chr13:53174722-53174723	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs34921442	chr13:53174762-53174763	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs572144069	chr13:53174765-53174766	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs74087351	chr13:53174805-53174806	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3694 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53169000-53174000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:53169400-53173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:53171200-53173800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:53171400-53174200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:53172000-53173200	Weak transcription	HepG2	liver
6	chr13:53172600-53173400	Enhancers	HUVEC	blood vessel
7	chr13:53172800-53173200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:53172800-53173200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:53172800-53173200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:53172800-53173200	Enhancers	HMEC	breast
11	chr13:53172800-53173400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:53172800-53173400	Enhancers	Fetal Kidney	kidney
13	chr13:53172800-53173400	Enhancers	Fetal Muscle Leg	muscle
14	chr13:53172800-53173400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr13:53172800-53173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:53172800-53173800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:53172800-53173800	Flanking Active TSS	Hela-S3	cervix
18	chr13:53173000-53173200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:53173000-53173200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr13:53173000-53173200	Enhancers	Fetal Lung	lung
21	chr13:53173000-53173200	Enhancers	Rectal Smooth Muscle	rectum
22	chr13:53173000-53173200	Active TSS	Stomach Smooth Muscle	stomach
23	chr13:53173000-53173200	Enhancers	Osteobl	bone
24	chr13:53173000-53173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:53173000-53173400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:53173000-53173400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr13:53173000-53173400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:53173000-53173400	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr13:53173000-53173400	Enhancers	Brain Hippocampus Middle	brain
30	chr13:53173000-53173400	Enhancers	Fetal Heart	heart
31	chr13:53173000-53173400	Enhancers	Fetal Intestine Small	intestine
32	chr13:53173000-53173400	Enhancers	HSMM	muscle
33	chr13:53173000-53173400	Enhancers	NH-A	brain
34	chr13:53173000-53173600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:53173000-53173600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:53173000-53173600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:53173000-53173600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr13:53173000-53173800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:53173000-53173800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr13:53173000-53174000	Flanking Active TSS	NHEK	skin
41	chr13:53173200-53173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:53173200-53173400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:53173200-53173400	Enhancers	Fetal Stomach	stomach
44	chr13:53173200-53173400	Enhancers	Right Atrium	heart
45	chr13:53173200-53173400	Enhancers	HepG2	liver
46	chr13:53173200-53173400	Enhancers	HSMMtube	muscle
47	chr13:53173200-53173600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:53173200-53173600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr13:53173200-53173600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr13:53173200-53173600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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