Variant report

Variant	esv3352699
Chromosome Location	chr19:42745662-42747910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:765)
CpG islands
(count:734)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:765 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42747327-42747595	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42746722-42747112	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42746939-42747660	K562	blood:	n/a	n/a
4	ATF1	chr19:42746709-42747578	K562	blood:	n/a	n/a
5	ATF2	chr19:42746782-42747554	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42746662-42747484	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:42746844-42747349	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:42746636-42747667	GM12878	blood:	n/a	n/a
9	ATF3	chr19:42746602-42747550	K562	blood:	n/a	chr19:42746802-42746816 chr19:42746715-42746724
10	ATF3	chr19:42746682-42747473	HepG2	liver:	n/a	chr19:42746802-42746816 chr19:42746715-42746724
11	ATF3	chr19:42746712-42748043	A549	lung:	n/a	chr19:42746802-42746816 chr19:42746715-42746724
12	ATF3	chr19:42746663-42747878	A549	lung:	n/a	chr19:42746802-42746816 chr19:42746715-42746724
13	ATF3	chr19:42746720-42747632	GM12878	blood:	n/a	chr19:42746802-42746816
14	BATF	chr19:42746733-42747053	GM12878	blood:	n/a	n/a
15	BCL3	chr19:42745641-42746557	A549	lung:	n/a	n/a
16	BCL3	chr19:42746597-42747991	A549	lung:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
17	BCL3	chr19:42746581-42748056	A549	lung:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
18	BCLAF1	chr19:42746579-42747568	GM12878	blood:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
19	BCLAF1	chr19:42746386-42747804	GM12878	blood:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
20	BCLAF1	chr19:42746508-42748014	K562	blood:	n/a	chr19:42746633-42746646 chr19:42746751-42746764 chr19:42746755-42746768
21	BHLHE40	chr19:42746714-42747787	HepG2	liver:	n/a	chr19:42746749-42746765 chr19:42746751-42746767
22	BHLHE40	chr19:42746678-42747913	K562	blood:	n/a	chr19:42746749-42746765 chr19:42746751-42746767
23	BHLHE40	chr19:42746666-42747660	GM12878	blood:	n/a	chr19:42746749-42746765 chr19:42746751-42746767
24	BRCA1	chr19:42746751-42747708	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr19:42746728-42747605	HepG2	liver:	n/a	n/a
26	BRCA1	chr19:42746755-42747272	GM12878	blood:	n/a	n/a
27	BRCA1	chr19:42746763-42747523	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr19:42746723-42747695	K562	blood:	n/a	n/a
29	CCNT2	chr19:42746270-42747766	K562	blood:	n/a	n/a
30	CEBPB	chr19:42746671-42747623	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr19:42747091-42747456	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:42746904-42747564	HepG2	liver:	n/a	n/a
33	CEBPB	chr19:42746811-42747903	A549	lung:	n/a	n/a
34	CEBPB	chr19:42746705-42747633	IMR90	lung:	n/a	n/a
35	CEBPB	chr19:42746762-42748023	GM12878	blood:	n/a	n/a
36	CEBPB	chr19:42746991-42747788	K562	blood:	n/a	n/a
37	CEBPB	chr19:42746874-42747791	K562	blood:	n/a	n/a
38	CEBPB	chr19:42747130-42747592	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr19:42746779-42747566	MCF-7	breast:	n/a	n/a
40	CEBPB	chr19:42746667-42747585	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr19:42746750-42747557	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:42747219-42747492	K562	blood:	n/a	n/a
43	CEBPB	chr19:42746977-42747611	A549	lung:	n/a	n/a
44	CEBPB	chr19:42746776-42747865	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr19:42746577-42747770	A549	lung:	n/a	n/a
46	CEBPD	chr19:42747203-42747612	HepG2	liver:	n/a	n/a
47	CEBPD	chr19:42747177-42747623	HepG2	liver:	n/a	n/a
48	CEBPD	chr19:42746469-42746798	HepG2	liver:	n/a	n/a
49	CHD1	chr19:42747473-42747801	GM12878	blood:	n/a	n/a
50	CHD1	chr19:42746580-42747090	GM12878	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42747008-42747058	Hela-S3	cervix:	n/a
2	chr19:42746319-42746369	SK-N-SH_RA	brain:	n/a
3	chr19:42747008-42747058	Hela-S3	cervix:	n/a
4	chr19:42746319-42746369	SK-N-SH_RA	brain:	n/a
5	chr19:42747065-42747115	AG09309	skin:	n/a
6	chr19:42746319-42746369	ProgFib	skin:	n/a
7	chr19:42747065-42747115	ECC-1	luminal epithelium:	n/a
8	chr19:42746884-42746934	HCPEpiC	choroid plexus:	n/a
9	chr19:42747065-42747115	SK-N-SH_RA	brain:	n/a
10	chr19:42746884-42746934	HUVEC	blood vessel:	n/a
11	chr19:42747018-42747068	HCT-116	colon:	n/a
12	chr19:42746315-42746365	AG04449	skin:	fetal
13	chr19:42746315-42746365	Hela-S3	cervix:	n/a
14	chr19:42747065-42747115	K562	blood:	n/a
15	chr19:42746239-42746289	T-47D	breast:	n/a
16	chr19:42746847-42746897	HRCEpiC	kidney:	n/a
17	chr19:42746884-42746934	BE2_C	brain:	n/a
18	chr19:42747065-42747115	NB4	blood:	n/a
19	chr19:42747008-42747058	NT2-D1	testis:	n/a
20	chr19:42746315-42746365	HCT-116	colon:	n/a
21	chr19:42746239-42746289	ProgFib	skin:	n/a
22	chr19:42746555-42746605	HNPCEpiC	eye:	n/a
23	chr19:42747065-42747115	A549	lung:	n/a
24	chr19:42746315-42746365	AG09319	gingival:	n/a
25	chr19:42746906-42746956	U87	brain:	n/a
26	chr19:42746897-42746947	PrEC	prostate:	n/a
27	chr19:42746319-42746369	BE2_C	brain:	n/a
28	chr19:42746319-42746369	GM12891	blood:	n/a
29	chr19:42746555-42746605	A549	lung:	n/a
30	chr19:42747065-42747115	MCF-7	breast:	n/a
31	chr19:42746906-42746956	GM06990	blood:	n/a
32	chr19:42746555-42746605	H1-hESC	embryonic stem cell:	embryo
33	chr19:42746897-42746947	NT2-D1	testis:	n/a
34	chr19:42747065-42747115	HMEC	breast:	n/a
35	chr19:42746239-42746289	BJ	skin:	n/a
36	chr19:42746315-42746365	ECC-1	luminal epithelium:	n/a
37	chr19:42746319-42746369	MCF10A-Er-Src	breast:	n/a
38	chr19:42746239-42746289	HIPEpiC	eye:	n/a
39	chr19:42746884-42746934	Caco-2	colon:	n/a
40	chr19:42747008-42747058	PANC-1	pancreas:	n/a
41	chr19:42746884-42746934	NHDF-neo	bronchial:	n/a
42	chr19:42746897-42746947	BE2_C	brain:	n/a
43	chr19:42747018-42747068	GM12891	blood:	n/a
44	chr19:42746319-42746369	K562	blood:	n/a
45	chr19:42747065-42747115	AG04450	lung:	fetal
46	chr19:42747065-42747115	PFSK-1	brain:	n/a
47	chr19:42747018-42747068	AG04449	skin:	fetal
48	chr19:42746847-42746897	GM06990	blood:	n/a
49	chr19:42746315-42746365	GM12891	blood:	n/a
50	chr19:42746319-42746369	SK-N-MC	brain:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42734779..42737067-chr19:42745327..42747787,2	MCF-7	breast:
2	chr19:42747088..42748068-chr19:42783977..42784681,2	Hela-S3	cervix:
3	chr19:42695805..42698002-chr19:42744697..42747110,2	MCF-7	breast:
4	chr11:1855536..1857574-chr19:42743518..42745995,2	MCF-7	breast:
5	chr19:42707772..42710426-chr19:42747834..42750505,2	MCF-7	breast:
6	chr19:42747027..42748730-chr19:42805186..42807872,2	MCF-7	breast:
7	chr19:42619346..42621676-chr19:42746420..42748226,2	MCF-7	breast:
8	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
9	chr19:42745106..42750336-chr19:42827948..42831181,5	K562	blood:
10	chr19:42362466..42365153-chr19:42745908..42747542,2	K562	blood:
11	chr19:42747731..42749845-chr19:42900556..42904711,3	MCF-7	breast:
12	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
13	chr19:42747001..42747936-chr7:44122025..44122598,2	Hela-S3	cervix:
14	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
15	chr19:42634611..42641780-chr19:42741001..42747645,8	MCF-7	breast:
16	chr19:42722142..42727268-chr19:42743805..42748670,12	MCF-7	breast:
17	chr19:42746221..42749028-chr19:42806673..42809269,4	K562	blood:
18	chr19:42745106..42746807-chr19:42829655..42831181,2	K562	blood:
19	chr19:42747876..42750484-chr19:42833643..42836165,2	MCF-7	breast:
20	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
21	chr19:42745751..42747885-chr19:42828050..42829792,2	MCF-7	breast:
22	chr19:42432401..42434702-chr19:42746982..42749095,2	K562	blood:
23	chr19:42747157..42748749-chr19:42804918..42806482,2	K562	blood:
24	chr19:42746881..42748655-chr19:42811057..42812701,2	K562	blood:
25	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
26	chr19:42747598..42750553-chr19:42828102..42831062,3	MCF-7	breast:
27	chr19:42719158..42725942-chr19:42744280..42751391,14	MCF-7	breast:
28	chr19:42633522..42638694-chr19:42746138..42750554,7	MCF-7	breast:
29	chr19:42720291..42721967-chr19:42744668..42747834,3	MCF-7	breast:
30	chr19:42744952..42747031-chr19:42828094..42829861,2	MCF-7	breast:
31	chr19:42745670..42748955-chr19:42805967..42808847,6	K562	blood:
32	chr19:42746379..42748753-chr19:42901046..42902799,2	K562	blood:
33	chr19:42626781..42629013-chr19:42746028..42748919,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204957	TF binding region
GSK3A	TF binding region
ENSG00000204957	CpG island
GSK3A	CpG island
ENSG00000079432	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000167625	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000149043	chromatin interactions
ENSG00000265122	chromatin interactions
ENSG00000028277	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000076928	chromatin interactions
ENSG00000122678	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527635963	chr19:42745783-42745784	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs549344474	chr19:42745789-42745790	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs567439654	chr19:42745807-42745808	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs557277103	chr19:42745865-42745866	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs708598	chr19:42745923-42745924	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs147340107	chr19:42745963-42745964	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs538357354	chr19:42745988-42745989	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs553405360	chr19:42746003-42746004	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs571755768	chr19:42746048-42746049	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs536478749	chr19:42746099-42746100	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs368500370	chr19:42746144-42746145	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs144966384	chr19:42746156-42746157	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs12982923	chr19:42746190-42746191	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs188700957	chr19:42746213-42746214	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs574231627	chr19:42746220-42746221	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs372714233	chr19:42746289-42746290	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs371624493	chr19:42746291-42746292	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs376056855	chr19:42746296-42746297	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs377139858	chr19:42746342-42746343	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs540584253	chr19:42746354-42746355	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs545519489	chr19:42746359-42746360	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs560563143	chr19:42746378-42746379	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs375795165	chr19:42746411-42746412	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs192810927	chr19:42746613-42746614	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs527727447	chr19:42746734-42746735	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs113540737	chr19:42746763-42746764	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs529783610	chr19:42746786-42746787	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs151325611	chr19:42746885-42746886	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs139374140	chr19:42746913-42746914	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs373819900	chr19:42746924-42746925	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs568300628	chr19:42746953-42746954	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs550009426	chr19:42746996-42746997	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs571358120	chr19:42747000-42747001	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs538443440	chr19:42747071-42747072	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs183458477	chr19:42747081-42747082	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs565424154	chr19:42747089-42747090	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs535874864	chr19:42747137-42747138	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs187127742	chr19:42747142-42747143	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs560476353	chr19:42747164-42747165	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs568376320	chr19:42747180-42747181	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs575960640	chr19:42747216-42747217	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs11878620	chr19:42747229-42747230	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117970118	chr19:42747230-42747231	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs578235996	chr19:42747232-42747233	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs376703185	chr19:42747257-42747258	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs554340614	chr19:42747259-42747260	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs572548923	chr19:42747271-42747272	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs191534324	chr19:42747279-42747280	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs3810149	chr19:42747280-42747281	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs531685403	chr19:42747303-42747304	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42725000-42747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:42741000-42745800	Weak transcription	Aorta	Aorta
3	chr19:42741200-42745800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:42744200-42745800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42744400-42745800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:42744400-42745800	Weak transcription	Lung	lung
7	chr19:42744400-42745800	Enhancers	Pancreas	Pancrea
8	chr19:42744600-42745800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:42744600-42745800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:42744600-42745800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:42744600-42745800	Weak transcription	Ovary	ovary
12	chr19:42744600-42746000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:42744600-42748800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:42744800-42745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:42744800-42745800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:42744800-42745800	Enhancers	Primary B cells from peripheral blood	blood
17	chr19:42744800-42745800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr19:42744800-42745800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:42744800-42745800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:42744800-42745800	Enhancers	Brain Substantia Nigra	brain
21	chr19:42744800-42745800	Weak transcription	Esophagus	oesophagus
22	chr19:42744800-42745800	Transcr. at gene 5' and 3'	A549	lung
23	chr19:42744800-42746000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:42744800-42746200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:42745000-42745800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr19:42745000-42745800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:42745000-42745800	Weak transcription	Gastric	stomach
28	chr19:42745000-42745800	Enhancers	Left Ventricle	heart
29	chr19:42745000-42745800	Transcr. at gene 5' and 3'	K562	blood
30	chr19:42745000-42748000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:42745200-42745800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:42745200-42745800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr19:42745200-42745800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:42745200-42745800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:42745200-42748200	Active TSS	HSMM	muscle
36	chr19:42745400-42745800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:42745400-42745800	Flanking Active TSS	Stomach Mucosa	stomach
38	chr19:42745400-42745800	Flanking Active TSS	HepG2	liver
39	chr19:42745400-42746000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:42745400-42746000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:42745400-42746000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:42745400-42746000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:42745400-42746000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:42745400-42746000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:42745400-42746000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:42745400-42746000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr19:42745400-42746000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr19:42745400-42746000	Flanking Active TSS	GM12878-XiMat	blood
49	chr19:42745400-42746000	Flanking Active TSS	HMEC	breast
50	chr19:42745400-42746000	Flanking Active TSS	NHEK	skin

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