Variant report

Variant	esv3335183
Chromosome Location	chr19:45225161-45253316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2339)
CpG islands
(count:916)
Chromatin interactive
region (count:77)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2339 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45243421-45243621	K562	blood:	n/a	n/a
2	ARID3A	chr19:45250879-45251012	K562	blood:	n/a	n/a
3	ARID3A	chr19:45228559-45228738	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:45251363-45251524	K562	blood:	n/a	n/a
5	ARID3A	chr19:45252043-45252132	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:45247826-45247940	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:45227197-45227416	K562	blood:	n/a	n/a
8	ARID3A	chr19:45245113-45245385	K562	blood:	n/a	n/a
9	ARID3A	chr19:45250349-45250594	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:45227219-45227485	HepG2	liver:	n/a	n/a
11	ATF2	chr19:45227034-45227491	GM12878	blood:	n/a	n/a
12	ATF2	chr19:45225226-45225968	GM12878	blood:	n/a	n/a
13	ATF2	chr19:45239913-45240318	GM12878	blood:	n/a	n/a
14	ATF2	chr19:45239798-45240927	GM12878	blood:	n/a	n/a
15	ATF2	chr19:45242019-45242490	GM12878	blood:	n/a	n/a
16	ATF2	chr19:45242075-45242338	GM12878	blood:	n/a	n/a
17	ATF2	chr19:45240326-45240890	GM12878	blood:	n/a	n/a
18	ATF3	chr19:45249863-45251739	A549	lung:	n/a	chr19:45250675-45250684 chr19:45250751-45250760
19	ATF3	chr19:45245037-45245456	K562	blood:	n/a	n/a
20	ATF3	chr19:45240286-45241801	A549	lung:	n/a	chr19:45240757-45240766
21	ATF3	chr19:45251088-45251679	A549	lung:	n/a	n/a
22	ATF3	chr19:45244457-45245023	A549	lung:	n/a	n/a
23	ATF3	chr19:45240264-45241274	A549	lung:	n/a	chr19:45240757-45240766
24	ATF3	chr19:45250657-45251094	K562	blood:	n/a	chr19:45250675-45250684 chr19:45250751-45250760
25	ATF3	chr19:45241911-45242883	A549	lung:	n/a	chr19:45242214-45242228
26	ATF3	chr19:45226811-45229258	A549	lung:	n/a	n/a
27	ATF3	chr19:45245031-45245693	A549	lung:	n/a	n/a
28	ATF3	chr19:45241894-45242836	A549	lung:	n/a	chr19:45242214-45242228
29	ATF3	chr19:45244662-45245702	A549	lung:	n/a	n/a
30	ATF3	chr19:45245104-45245358	K562	blood:	n/a	n/a
31	BACH1	chr19:45245130-45245421	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr19:45250795-45251582	H1-hESC	embryonic stem cell:	n/a	chr19:45250876-45250890
33	BACH1	chr19:45250354-45250458	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr19:45250333-45250350	K562	blood:	n/a	n/a
35	BACH1	chr19:45245106-45245417	K562	blood:	n/a	n/a
36	BATF	chr19:45239966-45240289	GM12878	blood:	n/a	n/a
37	BATF	chr19:45225443-45225919	GM12878	blood:	n/a	n/a
38	BATF	chr19:45239971-45240305	GM12878	blood:	n/a	n/a
39	BATF	chr19:45240421-45240858	GM12878	blood:	n/a	n/a
40	BCL11A	chr19:45239985-45240269	GM12878	blood:	n/a	n/a
41	BCL11A	chr19:45251867-45252212	GM12878	blood:	n/a	n/a
42	BCL11A	chr19:45225368-45225869	GM12878	blood:	n/a	n/a
43	BCL11A	chr19:45239908-45240380	GM12878	blood:	n/a	n/a
44	BCL11A	chr19:45240482-45240987	GM12878	blood:	n/a	chr19:45240812-45240821
45	BCL11A	chr19:45225390-45225876	GM12878	blood:	n/a	n/a
46	BCL11A	chr19:45240494-45240829	GM12878	blood:	n/a	chr19:45240812-45240821
47	BCL3	chr19:45239885-45242920	A549	lung:	n/a	chr19:45240812-45240821 chr19:45242123-45242132
48	BCL3	chr19:45235051-45235926	A549	lung:	n/a	n/a
49	BCL3	chr19:45251640-45252239	GM12878	blood:	n/a	n/a
50	BCL3	chr19:45250557-45251029	GM12878	blood:	n/a	chr19:45250739-45250752 chr19:45250771-45250780

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45250754-45250804	Hepatocyte	liver:	n/a
2	chr19:45250754-45250804	Hepatocyte	liver:	n/a
3	chr19:45251903-45251953	PFSK-1	brain:	n/a
4	chr19:45252329-45252379	HRE	kidney:	n/a
5	chr19:45250754-45250804	NT2-D1	testis:	n/a
6	chr19:45250480-45250530	AG09319	gingival:	n/a
7	chr19:45251919-45251969	GM12891	blood:	n/a
8	chr19:45252329-45252379	PrEC	prostate:	n/a
9	chr19:45251919-45251969	BE2_C	brain:	n/a
10	chr19:45251874-45251924	AG04450	lung:	fetal
11	chr19:45248572-45248622	SKMC	muscle:	n/a
12	chr19:45251874-45251924	AG09319	gingival:	n/a
13	chr19:45251919-45251969	HEK293	kidney:	embryo
14	chr19:45251551-45251601	U87	brain:	n/a
15	chr19:45251925-45251975	AG04450	lung:	fetal
16	chr19:45251986-45252036	PFSK-1	brain:	n/a
17	chr19:45251986-45252036	AoSMC	blood vessel:	n/a
18	chr19:45251903-45251953	GM12891	blood:	n/a
19	chr19:45251911-45251961	CMK	blood:	n/a
20	chr19:45251551-45251601	AoSMC	blood vessel:	n/a
21	chr19:45251180-45251230	AG09309	skin:	n/a
22	chr19:45251911-45251961	ECC-1	luminal epithelium:	n/a
23	chr19:45252955-45253005	AG10803	skin:	n/a
24	chr19:45251919-45251969	AG04449	skin:	fetal
25	chr19:45251903-45251953	SK-N-SH	brain:	n/a
26	chr19:45250754-45250804	ovcar-3	ovarian:	n/a
27	chr19:45251551-45251601	BE2_C	brain:	n/a
28	chr19:45251911-45251961	SAEC	small airway:	n/a
29	chr19:45252955-45253005	PANC-1	pancreas:	n/a
30	chr19:45251180-45251230	SKMC	muscle:	n/a
31	chr19:45251180-45251230	MCF10A-Er-Src	breast:	n/a
32	chr19:45251180-45251230	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:45252955-45253005	BJ	skin:	n/a
34	chr19:45250638-45250688	HEK293	kidney:	embryo
35	chr19:45248572-45248622	HepG2	liver:	n/a
36	chr19:45251919-45251969	HUVEC	blood vessel:	n/a
37	chr19:45252955-45253005	Hepatocyte	liver:	n/a
38	chr19:45252329-45252379	Hela-S3	cervix:	n/a
39	chr19:45252955-45253005	U87	brain:	n/a
40	chr19:45248572-45248622	Jurkat	blood:	n/a
41	chr19:45248572-45248622	NHBE	bronchial:	n/a
42	chr19:45248572-45248622	AoSMC	blood vessel:	n/a
43	chr19:45252955-45253005	HEEpiC	esophagus:	n/a
44	chr19:45252329-45252379	ECC-1	luminal epithelium:	n/a
45	chr19:45251551-45251601	SK-N-MC	brain:	n/a
46	chr19:45250480-45250530	NB4	blood:	n/a
47	chr19:45251180-45251230	NHBE	bronchial:	n/a
48	chr19:45251919-45251969	AG09309	skin:	n/a
49	chr19:45250638-45250688	HEEpiC	esophagus:	n/a
50	chr19:45251919-45251969	NH-A	brain:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:45157412..45158227-chr19:45226797..45227422,2	MCF-7	breast:
2	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:
3	chr19:45225615..45227303-chr19:45305685..45307251,2	MCF-7	breast:
4	chr19:45252359..45252902-chr9:34179841..34180546,2	Hela-S3	cervix:
5	chr19:45223983..45225752-chr19:45308635..45310345,2	MCF-7	breast:
6	chr19:45240956..45243677-chr19:45255816..45257641,2	K562	blood:
7	chr19:45219157..45222052-chr19:45228236..45230386,2	MCF-7	breast:
8	chr19:45226867..45228594-chr19:45240913..45242442,2	MCF-7	breast:
9	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
10	chr19:45219202..45222922-chr19:45224477..45228949,4	K562	blood:
11	chr19:45196825..45199770-chr19:45225839..45228491,3	MCF-7	breast:
12	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
13	chr19:45074025..45075864-chr19:45246101..45248322,2	MCF-7	breast:
14	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
15	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
16	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
17	chr19:45225929..45228850-chr19:45345797..45349364,6	MCF-7	breast:
18	chr19:45192448..45193083-chr19:45226861..45227794,2	K562	blood:
19	chr19:45233691..45235616-chr19:45239069..45240696,2	MCF-7	breast:
20	chr19:45205670..45208589-chr19:45222622..45225416,2	MCF-7	breast:
21	chr19:45221363..45224065-chr19:45224767..45227210,2	K562	blood:
22	chr19:45226867..45228594-chr19:45240913..45242442,2	MCF-7	breast:
23	chr19:45243778..45246172-chr19:45250580..45252564,2	K562	blood:
24	chr19:45226809..45227376-chr19:45348528..45349464,2	K562	blood:
25	chr19:45222128..45223998-chr19:45225883..45227558,2	MCF-7	breast:
26	chr19:45227364..45228185-chr19:45244910..45245812,2	MCF-7	breast:
27	chr19:45180699..45183749-chr19:45249057..45252629,3	MCF-7	breast:
28	chr16:75682151..75683053-chr19:45252133..45253014,2	Hela-S3	cervix:
29	chr19:45231900..45232616-chr2:28178929..28179501,2	Hela-S3	cervix:
30	chr19:45237572..45239935-chr19:45240131..45241876,2	MCF-7	breast:
31	chr19:45218763..45223660-chr19:45224514..45229778,7	MCF-7	breast:
32	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
33	chr19:45246449..45248684-chr19:45349808..45352021,2	MCF-7	breast:
34	chr19:45226806..45227600-chr19:45347751..45348601,3	MCF-7	breast:
35	chr19:45149710..45152694-chr19:45240654..45242344,2	MCF-7	breast:
36	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
37	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
38	chr19:45178103..45180763-chr19:45243646..45245219,2	K562	blood:
39	chr19:45226820..45228125-chr19:45273429..45274209,3	MCF-7	breast:
40	chr19:45227299..45228224-chr19:45347748..45348667,2	MCF-7	breast:
41	chr19:45216092..45218218-chr19:45224002..45225852,2	MCF-7	breast:
42	chr19:45157823..45158372-chr19:45227007..45227585,2	MCF-7	breast:
43	chr19:45233845..45235491-chr19:45239914..45242693,2	K562	blood:
44	chr19:45227328..45229079-chr19:45239485..45242228,2	K562	blood:
45	chr19:45226238..45228796-chr19:45349593..45352050,3	MCF-7	breast:
46	chr19:45173518..45176542-chr19:45249418..45252711,3	MCF-7	breast:
47	chr17:79936078..79936868-chr19:45251918..45252553,2	Hela-S3	cervix:
48	chr19:45236994..45239272-chr19:45241247..45244743,3	K562	blood:
49	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
50	chr19:45228440..45228988-chr19:45250504..45251327,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL3-1	chr19:45248302-45248394	XLOC_013095
2	lnc-ZNF180-2	chr19:45249367-45250906	XLOC_013356
3	lnc-BCL3-1	chr19:45240862-45241099	XLOC_013095
4	lnc-CBLC-4	chr19:45251093-45251385	NONHSAT066718
5	lnc-BCL3-1	chr19:45248302-45249208	XLOC_013095
6	lnc-BCL3-1	chr19:45249841-45250906	XLOC_013095
7	lnc-BCL3-1	chr19:45240862-45241099	XLOC_013095
8	lnc-CBLC-4	chr19:45251952-45252261	NONHSAT066718
9	lnc-ZNF180-2	chr19:45248302-45249208	XLOC_013356

No data

Variant related genes	Relation type
ENSG00000252200	TF binding region
ENSG00000266903	TF binding region
BCL3	TF binding region
ENSG00000252200	CpG island
ENSG00000266903	CpG island
BCL3	CpG island
ENSG00000196391	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000187244	chromatin interactions
ENSG00000266903	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000252200	chromatin interactions
ENSG00000069399	chromatin interactions
ENSG00000186567	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000073008	chromatin interactions
ENSG00000267348	chromatin interactions
ENSG00000130202	chromatin interactions
CBX5	miRNA target sites
CBX7	miRNA target sites

Extended variants
information (count: 1096 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1096 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535594418	chr19:45225210-45225211	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546159090	chr19:45225239-45225240	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548992605	chr19:45225258-45225259	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568897769	chr19:45225279-45225280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs80073633	chr19:45225291-45225292	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532438317	chr19:45225307-45225308	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188422083	chr19:45225309-45225310	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149266459	chr19:45225328-45225329	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2965109	chr19:45225345-45225346	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs11673631	chr19:45225423-45225424	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143480106	chr19:45225428-45225429	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs193245853	chr19:45225498-45225499	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184097316	chr19:45225506-45225507	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148013315	chr19:45225507-45225508	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545016908	chr19:45225577-45225578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7260564	chr19:45225589-45225590	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186719419	chr19:45225590-45225591	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546477081	chr19:45225743-45225744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560336708	chr19:45225744-45225745	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368020599	chr19:45225766-45225767	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528974673	chr19:45225775-45225776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549070237	chr19:45225790-45225791	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371995298	chr19:45225796-45225797	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568987565	chr19:45225837-45225838	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191563456	chr19:45225916-45225917	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551360190	chr19:45225938-45225939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143580711	chr19:45225972-45225973	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2927487	chr19:45225973-45225974	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs114585683	chr19:45226117-45226118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368976762	chr19:45226167-45226168	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183857177	chr19:45226192-45226193	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572252962	chr19:45226220-45226221	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147194805	chr19:45226262-45226263	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188570461	chr19:45226304-45226305	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs570075782	chr19:45226338-45226339	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538154686	chr19:45226377-45226378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs576137287	chr19:45226401-45226402	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545029745	chr19:45226420-45226421	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192728083	chr19:45226461-45226462	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs577852197	chr19:45226468-45226469	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs540557119	chr19:45226477-45226478	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185241114	chr19:45226480-45226481	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112379830	chr19:45226489-45226490	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542851380	chr19:45226494-45226495	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562519348	chr19:45226527-45226528	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs531480016	chr19:45226533-45226534	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377220352	chr19:45226542-45226543	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs190174839	chr19:45226570-45226571	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369733569	chr19:45226615-45226616	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182295094	chr19:45226634-45226635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45221400-45225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:45221600-45225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:45221600-45225800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:45222000-45226600	Enhancers	Liver	Liver
5	chr19:45222200-45225400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:45222400-45225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:45222400-45227000	Weak transcription	NHEK	skin
8	chr19:45222600-45225200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:45222600-45225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:45222600-45225200	Weak transcription	K562	blood
11	chr19:45222600-45225400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:45222600-45226000	Weak transcription	Right Ventricle	heart
13	chr19:45222600-45226800	Weak transcription	Esophagus	oesophagus
14	chr19:45222600-45226800	Weak transcription	HMEC	breast
15	chr19:45222600-45227000	Weak transcription	Small Intestine	intestine
16	chr19:45222600-45227000	Weak transcription	HSMM	muscle
17	chr19:45222600-45227400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:45222600-45227400	Weak transcription	Psoas Muscle	Psoas
19	chr19:45222600-45227400	Weak transcription	NHDF-Ad	bronchial
20	chr19:45222800-45225200	Weak transcription	Fetal Intestine Large	intestine
21	chr19:45222800-45225200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:45222800-45225200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:45222800-45225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:45222800-45225400	Weak transcription	Gastric	stomach
25	chr19:45222800-45225400	Weak transcription	Lung	lung
26	chr19:45222800-45225400	Weak transcription	Right Atrium	heart
27	chr19:45222800-45225400	Enhancers	HepG2	liver
28	chr19:45222800-45225800	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:45222800-45226800	Weak transcription	Left Ventricle	heart
30	chr19:45222800-45226800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:45222800-45226800	Weak transcription	NHLF	lung
32	chr19:45222800-45227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:45222800-45227000	Weak transcription	Fetal Kidney	kidney
34	chr19:45222800-45227400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:45222800-45227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:45222800-45227400	Weak transcription	HSMMtube	muscle
37	chr19:45222800-45227400	Weak transcription	NH-A	brain
38	chr19:45222800-45227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:45222800-45227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:45222800-45228600	Weak transcription	Ovary	ovary
41	chr19:45222800-45231400	Weak transcription	Fetal Lung	lung
42	chr19:45223000-45225200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:45223000-45225200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:45223000-45225200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:45223000-45225200	Weak transcription	Fetal Intestine Small	intestine
46	chr19:45223000-45225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:45223000-45225400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:45223000-45225400	Weak transcription	Colonic Mucosa	Colon
49	chr19:45223000-45225400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr19:45223600-45228600	Enhancers	Primary hematopoietic stem cells	blood

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