Variant report

Variant	nsv876771
Chromosome Location	chr3:50225568-50247824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1461)
CpG islands
(count:1893)
Chromatin interactive
region (count:60)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:50232938-50233828	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:50242729-50242737	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:50239078-50239577	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:50243658-50243720	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:50246097-50246570	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:50232026-50232276	HepG2	liver:	n/a	n/a
7	ATF2	chr3:50230093-50230371	GM12878	blood:	n/a	n/a
8	BACH1	chr3:50226748-50227000	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:50231965-50232377	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:50232726-50233195	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr3:50232023-50232206	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:50226749-50227023	K562	blood:	n/a	n/a
13	BHLHE40	chr3:50232046-50232329	K562	blood:	n/a	n/a
14	BHLHE40	chr3:50246330-50246711	HepG2	liver:	n/a	chr3:50246553-50246566 chr3:50246554-50246563 chr3:50246549-50246570 chr3:50246555-50246564 chr3:50246555-50246564
15	BHLHE40	chr3:50232824-50233791	HepG2	liver:	n/a	n/a
16	BHLHE40	chr3:50246156-50246745	HepG2	liver:	n/a	chr3:50246553-50246566 chr3:50246554-50246563 chr3:50246549-50246570 chr3:50246555-50246564 chr3:50246555-50246564
17	BHLHE40	chr3:50230057-50230386	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:50227557-50227711	K562	blood:	n/a	n/a
19	BRCA1	chr3:50226714-50227045	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr3:50230075-50230399	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr3:50240844-50241108	HepG2	liver:	n/a	n/a
22	BRCA1	chr3:50232182-50232328	HepG2	liver:	n/a	n/a
23	BRCA1	chr3:50230097-50230337	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr3:50247444-50247590	HepG2	liver:	n/a	n/a
25	BRCA1	chr3:50232762-50232837	HepG2	liver:	n/a	n/a
26	BRCA1	chr3:50226815-50226963	HepG2	liver:	n/a	n/a
27	BRCA1	chr3:50229318-50229322	HepG2	liver:	n/a	n/a
28	BRCA1	chr3:50243524-50243611	HepG2	liver:	n/a	n/a
29	CBX3	chr3:50231920-50232442	K562	blood:	n/a	n/a
30	CCNT2	chr3:50231970-50232300	K562	blood:	n/a	n/a
31	CCNT2	chr3:50226760-50226965	K562	blood:	n/a	n/a
32	CEBPB	chr3:50230070-50230396	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr3:50230053-50230347	K562	blood:	n/a	n/a
34	CEBPB	chr3:50228363-50228371	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr3:50232049-50232234	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr3:50232917-50233692	HepG2	liver:	n/a	n/a
37	CEBPB	chr3:50230064-50230393	IMR90	lung:	n/a	n/a
38	CEBPB	chr3:50230056-50230397	K562	blood:	n/a	n/a
39	CEBPB	chr3:50230046-50230397	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr3:50228284-50228391	K562	blood:	n/a	n/a
41	CEBPB	chr3:50247768-50248282	HepG2	liver:	n/a	n/a
42	CEBPD	chr3:50231878-50232267	HepG2	liver:	n/a	n/a
43	CEBPD	chr3:50247788-50248837	HepG2	liver:	n/a	n/a
44	CEBPD	chr3:50246314-50246646	HepG2	liver:	n/a	n/a
45	CEBPD	chr3:50242377-50242832	HepG2	liver:	n/a	n/a
46	CEBPD	chr3:50240780-50241278	HepG2	liver:	n/a	n/a
47	CEBPD	chr3:50243364-50243780	HepG2	liver:	n/a	n/a
48	CEBPD	chr3:50246144-50246739	HepG2	liver:	n/a	n/a
49	CEBPD	chr3:50239364-50239682	HepG2	liver:	n/a	n/a
50	CEBPD	chr3:50232728-50233820	HepG2	liver:	n/a	n/a

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50241300-50241350	ProgFib	skin:	n/a
2	chr3:50226684-50226734	HIPEpiC	eye:	n/a
3	chr3:50241300-50241350	ProgFib	skin:	n/a
4	chr3:50226684-50226734	HIPEpiC	eye:	n/a
5	chr3:50231845-50231895	NT2-D1	testis:	n/a
6	chr3:50243174-50243224	ECC-1	luminal epithelium:	n/a
7	chr3:50226684-50226734	H1-hESC	embryonic stem cell:	embryo
8	chr3:50228915-50228965	IMR90	lung:	fetal
9	chr3:50228871-50228921	HCT-116	colon:	n/a
10	chr3:50230988-50231038	BE2_C	brain:	n/a
11	chr3:50234688-50234738	SKMC	muscle:	n/a
12	chr3:50243565-50243615	H1-hESC	embryonic stem cell:	embryo
13	chr3:50242671-50242721	HRPEpiC	eye:	n/a
14	chr3:50228220-50228270	HCPEpiC	choroid plexus:	n/a
15	chr3:50231845-50231895	AG04450	lung:	fetal
16	chr3:50242505-50242555	A549	lung:	n/a
17	chr3:50232343-50232393	PANC-1	pancreas:	n/a
18	chr3:50229604-50229654	NHBE	bronchial:	n/a
19	chr3:50232343-50232393	ovcar-3	ovarian:	n/a
20	chr3:50243260-50243310	K562	blood:	n/a
21	chr3:50242671-50242721	SK-N-MC	brain:	n/a
22	chr3:50243930-50243980	Hela-S3	cervix:	n/a
23	chr3:50225856-50225906	NHBE	bronchial:	n/a
24	chr3:50228871-50228921	GM12892	blood:	n/a
25	chr3:50239406-50239456	HEEpiC	esophagus:	n/a
26	chr3:50228871-50228921	A549	lung:	n/a
27	chr3:50239406-50239456	HCM	heart:	n/a
28	chr3:50243930-50243980	HL-60	blood:	n/a
29	chr3:50225856-50225906	HCT-116	colon:	n/a
30	chr3:50243565-50243615	AG04449	skin:	fetal
31	chr3:50239406-50239456	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:50226684-50226734	RPTEC	kidney:	n/a
33	chr3:50228220-50228270	PFSK-1	brain:	n/a
34	chr3:50225856-50225906	HCPEpiC	choroid plexus:	n/a
35	chr3:50247180-50247230	T-47D	breast:	n/a
36	chr3:50228220-50228270	HEEpiC	esophagus:	n/a
37	chr3:50227735-50227785	HEK293	kidney:	embryo
38	chr3:50243930-50243980	HEK293	kidney:	embryo
39	chr3:50247180-50247230	IMR90	lung:	fetal
40	chr3:50243174-50243224	BJ	skin:	n/a
41	chr3:50230988-50231038	A549	lung:	n/a
42	chr3:50247180-50247230	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:50228915-50228965	HEK293	kidney:	embryo
44	chr3:50242325-50242375	Hela-S3	cervix:	n/a
45	chr3:50247180-50247230	GM12892	blood:	n/a
46	chr3:50239406-50239456	AG10803	skin:	n/a
47	chr3:50231845-50231895	BJ	skin:	n/a
48	chr3:50231904-50231954	GM12892	blood:	n/a
49	chr3:50242505-50242555	HepG2	liver:	n/a
50	chr3:50247180-50247230	HCT-116	colon:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:50232900..50236454-chr3:50236726..50239768,5	K562	blood:
2	chr3:50229772..50232477-chr3:50306774..50308819,2	K562	blood:
3	chr3:50193362..50195902-chr3:50224405..50227347,2	K562	blood:
4	chr3:50241794..50243896-chr3:50246798..50250002,3	MCF-7	breast:
5	chr3:50231275..50232635-chr3:50310083..50311048,11	K562	blood:
6	chr3:50239764..50242755-chr3:50243671..50247708,3	K562	blood:
7	chr3:50164397..50164965-chr3:50226441..50226966,2	K562	blood:
8	chr3:50226233..50229498-chr3:50242660..50245494,3	K562	blood:
9	chr3:50191309..50193703-chr3:50225240..50227025,2	MCF-7	breast:
10	chr3:50229825..50230750-chr3:50310077..50311002,7	K562	blood:
11	chr3:50232900..50236454-chr3:50236726..50239768,5	K562	blood:
12	chr3:50243330..50243871-chr6:52024604..52025477,2	MCF-7	breast:
13	chr3:50233776..50236030-chr3:50238190..50240367,2	K562	blood:
14	chr3:50242260..50244177-chr3:50332568..50334684,2	K562	blood:
15	chr3:50228755..50230527-chr3:50297568..50299197,2	MCF-7	breast:
16	chr3:50229597..50230456-chr3:50263191..50264110,6	MCF-7	breast:
17	chr3:50239059..50241014-chr3:50241192..50243517,2	K562	blood:
18	chr3:50218401..50220545-chr3:50229488..50231128,2	MCF-7	breast:
19	chr3:50231642..50232654-chr3:50283310..50284776,8	K562	blood:
20	chr3:50242278..50244597-chr3:50304376..50306670,2	K562	blood:
21	chr3:50238642..50240166-chr3:50273892..50275966,2	MCF-7	breast:
22	chr3:50238654..50240594-chr3:50244318..50246788,2	MCF-7	breast:
23	chr3:50192280..50192998-chr3:50226444..50226959,2	MCF-7	breast:
24	chr3:50229830..50230764-chr3:50310279..50310998,2	MCF-7	breast:
25	chr3:50153449..50156206-chr3:50223534..50226220,2	K562	blood:
26	chr3:50231596..50232673-chr3:50263051..50264192,14	K562	blood:
27	chr3:50229933..50231783-chr3:50296964..50298649,2	K562	blood:
28	chr3:50239764..50242755-chr3:50243671..50247708,3	K562	blood:
29	chr3:50238536..50240685-chr3:50240705..50242293,2	MCF-7	breast:
30	chr3:50232132..50232685-chr3:50294092..50294968,2	K562	blood:
31	chr3:50246100..50248921-chr3:50262200..50264604,3	MCF-7	breast:
32	chr3:50224996..50226942-chr3:50236874..50238990,2	K562	blood:
33	chr3:50231729..50232811-chr3:50311250..50312518,6	K562	blood:
34	chr3:50194714..50196531-chr3:50230211..50232377,2	K562	blood:
35	chr3:50232058..50232655-chr3:50264428..50265132,2	K562	blood:
36	chr3:50232085..50233844-chr3:50302857..50304550,2	K562	blood:
37	chr3:50224996..50226942-chr3:50236874..50238990,2	K562	blood:
38	chr3:50158714..50160101-chr3:50225873..50227682,16	MCF-7	breast:
39	chr3:50238675..50240953-chr3:50253455..50256694,3	K562	blood:
40	chr3:50229708..50230647-chr3:50263213..50264126,9	MCF-7	breast:
41	chr3:50238999..50240553-chr3:50300318..50302512,2	MCF-7	breast:
42	chr3:50230202..50232197-chr3:50263024..50265138,2	K562	blood:
43	chr3:50229745..50230936-chr3:50263060..50264605,15	K562	blood:
44	chr3:50225100..50230290-chr3:50272107..50276590,4	MCF-7	breast:
45	chr3:50159863..50162699-chr3:50227102..50229015,2	MCF-7	breast:
46	chr3:50228789..50232090-chr3:50232347..50234956,3	MCF-7	breast:
47	chr3:50219040..50221554-chr3:50225247..50227656,2	MCF-7	breast:
48	chr3:50194265..50196322-chr3:50231313..50232996,2	MCF-7	breast:
49	chr3:50238536..50240685-chr3:50240705..50242293,2	MCF-7	breast:
50	chr3:50158552..50159685-chr3:50226139..50227732,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3F-1	chr3:50230566-50230606	NONHSAT089794
2	lnc-SEMA3F-1	chr3:50230131-50230417	NONHSAT089794

No data

Variant related genes	Relation type
SLC38A3	TF binding region
GNAT1	TF binding region
SLC38A3	CpG island
GNAT1	CpG island
ENSG00000232352	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000230454	chromatin interactions
ENSG00000188338	chromatin interactions
ENSG00000114349	chromatin interactions
ENSG00000235016	chromatin interactions
ENSG00000001617	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000186792	chromatin interactions

Extended variants
information (count: 746 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11558285	chr3:50225568-50225569	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1046959	chr3:50225579-50225580	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs1046960	chr3:50225584-50225585	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs543148563	chr3:50225591-50225592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs148259784	chr3:50225607-50225608	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs72205047	chr3:50225622-50225623	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs200144707	chr3:50225631-50225632	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs59949761	chr3:50225632-50225633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139857596	chr3:50225794-50225795	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs550405002	chr3:50225857-50225858	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs369353752	chr3:50225888-50225889	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs149702464	chr3:50225898-50225899	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs373374707	chr3:50225976-50225977	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs14321	chr3:50226151-50226152	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs530002580	chr3:50226174-50226175	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs548407997	chr3:50226219-50226220	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs1063131	chr3:50226320-50226321	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs1046978	chr3:50226337-50226338	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs569749749	chr3:50226380-50226381	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs530686755	chr3:50226398-50226399	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs1046980	chr3:50226417-50226418	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs1046983	chr3:50226443-50226444	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs550016051	chr3:50226448-50226449	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs571373906	chr3:50226462-50226463	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs538670762	chr3:50226463-50226464	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs553728867	chr3:50226548-50226549	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs566065677	chr3:50226552-50226553	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs536534190	chr3:50226572-50226573	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs529695994	chr3:50226580-50226581	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs555191209	chr3:50226617-50226618	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs576564152	chr3:50226621-50226622	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs543953199	chr3:50226622-50226623	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs189138616	chr3:50226662-50226663	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs34721938	chr3:50226700-50226701	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs146211251	chr3:50226702-50226703	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs541063788	chr3:50226744-50226745	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs11714751	chr3:50226753-50226754	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs559383064	chr3:50226754-50226755	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs547905882	chr3:50226777-50226778	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs566430534	chr3:50226804-50226805	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs79941081	chr3:50226809-50226810	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs370769556	chr3:50226813-50226814	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs541764541	chr3:50226876-50226877	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs139145012	chr3:50226910-50226911	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs530633670	chr3:50226934-50226935	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs533587413	chr3:50226941-50226942	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs7638829	chr3:50226958-50226959	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565067352	chr3:50227016-50227017	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs532453665	chr3:50227021-50227022	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs552814396	chr3:50227030-50227031	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50204600-50226600	Weak transcription	Brain Anterior Caudate	brain
2	chr3:50205400-50226600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:50205400-50226600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:50206400-50226600	Weak transcription	NHLF	lung
5	chr3:50208800-50226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:50208800-50226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:50208800-50226600	Weak transcription	Osteobl	bone
8	chr3:50210400-50229200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:50210400-50242400	Weak transcription	Right Atrium	heart
10	chr3:50210600-50229400	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:50211400-50230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:50212200-50226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:50213600-50226400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:50214200-50230600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:50215000-50226600	Weak transcription	HSMMtube	muscle
16	chr3:50216600-50226200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:50217000-50226000	Strong transcription	NHEK	skin
18	chr3:50218000-50225600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr3:50218000-50226200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:50218000-50226200	Weak transcription	Stomach Mucosa	stomach
21	chr3:50218000-50228600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:50218800-50226200	Strong transcription	Brain Germinal Matrix	brain
23	chr3:50219000-50225800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr3:50219200-50226000	Strong transcription	Fetal Brain Female	brain
25	chr3:50219200-50226200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:50219200-50226400	Strong transcription	Fetal Stomach	stomach
27	chr3:50219400-50226000	Strong transcription	Lung	lung
28	chr3:50219400-50226200	Strong transcription	Adipose Nuclei	Adipose
29	chr3:50219400-50226600	Strong transcription	HMEC	breast
30	chr3:50219600-50225800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:50219600-50226000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:50219600-50226000	Strong transcription	Spleen	Spleen
33	chr3:50219800-50226000	Strong transcription	Fetal Muscle Leg	muscle
34	chr3:50220000-50231800	Weak transcription	K562	blood
35	chr3:50220200-50225600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr3:50220200-50228400	Weak transcription	HUVEC	blood vessel
37	chr3:50220400-50226000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:50220400-50228400	Weak transcription	Hela-S3	cervix
39	chr3:50220600-50226600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:50220800-50230200	Weak transcription	Colonic Mucosa	Colon
41	chr3:50221600-50228400	Weak transcription	HepG2	liver
42	chr3:50222000-50226400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:50222200-50226000	Strong transcription	Gastric	stomach
44	chr3:50222400-50226400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:50222400-50227400	Weak transcription	Aorta	Aorta
46	chr3:50223200-50226800	Weak transcription	Liver	Liver
47	chr3:50223200-50228400	Weak transcription	Fetal Kidney	kidney
48	chr3:50223800-50226200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:50224000-50226600	Weak transcription	Right Ventricle	heart
50	chr3:50224200-50225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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