Variant report

Variant	esv1803061
Chromosome Location	chr19:41249508-41258355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1072)
CpG islands
(count:1038)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41256050-41257940	HepG2	liver:	n/a	chr19:41256721-41256736
2	ATF1	chr19:41256094-41257284	K562	blood:	n/a	n/a
3	ATF2	chr19:41257341-41257843	GM12878	blood:	n/a	n/a
4	ATF2	chr19:41257448-41257834	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr19:41255892-41256641	GM12878	blood:	n/a	n/a
6	ATF2	chr19:41256113-41256617	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:41256978-41257335	GM12878	blood:	n/a	n/a
8	ATF2	chr19:41255823-41257952	GM12878	blood:	n/a	n/a
9	ATF2	chr19:41256131-41256627	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:41257289-41257798	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr19:41256202-41256737	HepG2	liver:	n/a	chr19:41256462-41256471
12	ATF3	chr19:41255781-41257908	A549	lung:	n/a	chr19:41256462-41256471
13	ATF3	chr19:41256125-41256653	GM12878	blood:	n/a	chr19:41256462-41256471
14	ATF3	chr19:41256283-41256551	HepG2	liver:	n/a	chr19:41256462-41256471
15	ATF3	chr19:41256306-41256611	H1-hESC	embryonic stem cell:	n/a	chr19:41256462-41256471
16	ATF3	chr19:41256068-41257967	A549	lung:	n/a	chr19:41256462-41256471
17	ATF3	chr19:41256142-41256695	H1-hESC	embryonic stem cell:	n/a	chr19:41256462-41256471
18	ATF3	chr19:41256270-41256591	K562	blood:	n/a	chr19:41256462-41256471
19	ATF3	chr19:41256329-41256548	GM12878	blood:	n/a	chr19:41256462-41256471
20	ATF3	chr19:41256981-41257261	K562	blood:	n/a	n/a
21	BACH1	chr19:41255548-41255554	K562	blood:	n/a	n/a
22	BACH1	chr19:41257124-41257448	K562	blood:	n/a	n/a
23	BACH1	chr19:41256144-41256897	H1-hESC	embryonic stem cell:	n/a	n/a
24	BCL3	chr19:41255714-41258003	A549	lung:	n/a	n/a
25	BCL3	chr19:41255259-41258065	A549	lung:	n/a	n/a
26	BCL3	chr19:41250953-41251715	A549	lung:	n/a	n/a
27	BCLAF1	chr19:41256700-41258024	GM12878	blood:	n/a	n/a
28	BCLAF1	chr19:41256718-41257915	K562	blood:	n/a	n/a
29	BCLAF1	chr19:41255901-41257958	GM12878	blood:	n/a	n/a
30	BHLHE40	chr19:41256150-41257700	HepG2	liver:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
31	BHLHE40	chr19:41255391-41257820	K562	blood:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
32	BHLHE40	chr19:41256214-41257901	GM12878	blood:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
33	BRCA1	chr19:41255650-41257884	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr19:41256229-41257341	HepG2	liver:	n/a	n/a
35	BRCA1	chr19:41256228-41257490	GM12878	blood:	n/a	n/a
36	BRCA1	chr19:41256169-41257292	H1-hESC	embryonic stem cell:	n/a	n/a
37	CBX3	chr19:41258250-41258670	K562	blood:	n/a	n/a
38	CBX3	chr19:41255904-41257969	K562	blood:	n/a	n/a
39	CCNT2	chr19:41256233-41257145	K562	blood:	n/a	n/a
40	CEBPB	chr19:41257149-41257341	K562	blood:	n/a	n/a
41	CEBPB	chr19:41251273-41251645	Hela-S3	cervix:	n/a	chr19:41251459-41251470
42	CEBPB	chr19:41255936-41257819	GM12878	blood:	n/a	chr19:41256736-41256744
43	CEBPB	chr19:41251272-41251655	IMR90	lung:	n/a	chr19:41251459-41251470
44	CEBPB	chr19:41251373-41251536	HepG2	liver:	n/a	chr19:41251459-41251470
45	CEBPB	chr19:41251286-41251639	A549	lung:	n/a	chr19:41251459-41251470
46	CEBPB	chr19:41255988-41256898	K562	blood:	n/a	chr19:41256736-41256744
47	CEBPB	chr19:41258028-41258327	A549	lung:	n/a	n/a
48	CEBPB	chr19:41251214-41251671	A549	lung:	n/a	chr19:41251459-41251470
49	CEBPB	chr19:41255999-41256871	K562	blood:	n/a	chr19:41256736-41256744
50	CEBPB	chr19:41251257-41251559	HepG2	liver:	n/a	chr19:41251459-41251470

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41255444-41255494	NH-A	brain:	n/a
2	chr19:41255444-41255494	NH-A	brain:	n/a
3	chr19:41256330-41256380	AG09309	skin:	n/a
4	chr19:41256729-41256779	AG09319	gingival:	n/a
5	chr19:41255444-41255494	T-47D	breast:	n/a
6	chr19:41256593-41256643	AoSMC	blood vessel:	n/a
7	chr19:41256425-41256475	U87	brain:	n/a
8	chr19:41256647-41256697	NH-A	brain:	n/a
9	chr19:41257673-41257723	HCF	heart:	n/a
10	chr19:41256330-41256380	Hela-S3	cervix:	n/a
11	chr19:41257673-41257723	MCF10A-Er-Src	breast:	n/a
12	chr19:41256330-41256380	CMK	blood:	n/a
13	chr19:41255890-41255940	NH-A	brain:	n/a
14	chr19:41257673-41257723	SK-N-SH	brain:	n/a
15	chr19:41257658-41257708	NB4	blood:	n/a
16	chr19:41257233-41257283	HNPCEpiC	eye:	n/a
17	chr19:41257233-41257283	U87	brain:	n/a
18	chr19:41256731-41256781	NH-A	brain:	n/a
19	chr19:41256723-41256773	SK-N-SH	brain:	n/a
20	chr19:41257233-41257283	A549	lung:	n/a
21	chr19:41256729-41256779	Caco-2	colon:	n/a
22	chr19:41256731-41256781	K562	blood:	n/a
23	chr19:41256731-41256781	GM19239	blood:	n/a
24	chr19:41257423-41257473	SK-N-SH	brain:	n/a
25	chr19:41256723-41256773	HNPCEpiC	eye:	n/a
26	chr19:41255304-41255354	CMK	blood:	n/a
27	chr19:41255947-41255997	MCF-7	breast:	n/a
28	chr19:41256729-41256779	LNCaP	prostate:	n/a
29	chr19:41257233-41257283	HCT-116	colon:	n/a
30	chr19:41256395-41256445	Hela-S3	cervix:	n/a
31	chr19:41256723-41256773	AoSMC	blood vessel:	n/a
32	chr19:41256731-41256781	AG10803	skin:	n/a
33	chr19:41256731-41256781	ECC-1	luminal epithelium:	n/a
34	chr19:41256913-41256963	HIPEpiC	eye:	n/a
35	chr19:41255304-41255354	Hepatocyte	liver:	n/a
36	chr19:41256593-41256643	MCF10A-Er-Src	breast:	n/a
37	chr19:41256425-41256475	ProgFib	skin:	n/a
38	chr19:41255444-41255494	HCPEpiC	choroid plexus:	n/a
39	chr19:41256913-41256963	T-47D	breast:	n/a
40	chr19:41256395-41256445	AG04449	skin:	fetal
41	chr19:41256647-41256697	IMR90	lung:	fetal
42	chr19:41256395-41256445	HCT-116	colon:	n/a
43	chr19:41255890-41255940	AG04449	skin:	fetal
44	chr19:41255304-41255354	T-47D	breast:	n/a
45	chr19:41255444-41255494	HEK293	kidney:	embryo
46	chr19:41257233-41257283	HMEC	breast:	n/a
47	chr19:41256723-41256773	NH-A	brain:	n/a
48	chr19:41257673-41257723	T-47D	breast:	n/a
49	chr19:41256395-41256445	LNCaP	prostate:	n/a
50	chr19:41255947-41255997	HUVEC	blood vessel:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:41243259..41245558-chr19:41249121..41252109,2	MCF-7	breast:
2	chr19:41256532..41257075-chr6:89790952..89791917,2	Hela-S3	cervix:
3	chr19:41256697..41257243-chr4:123747746..123748430,2	Hela-S3	cervix:
4	chr19:41244091..41247840-chr19:41248983..41251927,5	K562	blood:
5	chr1:67895816..67896491-chr19:41256613..41257218,2	Hela-S3	cervix:
6	chr19:41222890..41224913-chr19:41248409..41251329,2	MCF-7	breast:
7	chr19:41245929..41248021-chr19:41248961..41250491,2	MCF-7	breast:
8	chr19:41245888..41248575-chr19:41249576..41251299,3	MCF-7	breast:
9	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
10	chr19:41252878..41254657-chr19:41324128..41326565,2	K562	blood:
11	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
12	chr19:41196421..41198353-chr19:41250017..41252593,2	MCF-7	breast:
13	chr19:41254747..41256268-chr19:41303480..41305851,2	MCF-7	breast:
14	chr12:112450574..112451117-chr19:41256663..41257549,2	Hela-S3	cervix:
15	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
16	chr19:41256511..41257371-chr2:86332897..86333795,2	Hela-S3	cervix:
17	chr19:41187012..41189699-chr19:41251561..41253101,2	K562	blood:
18	chr11:65190254..65190996-chr19:41257060..41258041,2	Hela-S3	cervix:
19	chr19:41253175..41255589-chr19:41255801..41257660,2	MCF-7	breast:
20	chr19:41253829..41256175-chr19:41256460..41259109,2	K562	blood:
21	chr19:41246355..41251647-chr19:41252986..41257062,8	MCF-7	breast:
22	chr19:41241454..41243061-chr19:41249633..41252530,2	MCF-7	breast:
23	chr19:41221325..41223317-chr19:41251356..41253092,2	K562	blood:
24	chr19:41250507..41251123-chr19:41303707..41304570,2	MCF-7	breast:
25	chr19:41206945..41208497-chr19:41254996..41257251,2	K562	blood:
26	chr19:41220577..41223187-chr19:41248181..41249684,2	MCF-7	breast:
27	chr19:41253829..41256175-chr19:41256460..41259109,2	K562	blood:
28	chr19:41250030..41251004-chr19:41312820..41313338,2	MCF-7	breast:
29	chr19:41249292..41252610-chr19:41304963..41307925,4	K562	blood:
30	chr19:41249699..41252610-chr19:41306249..41307925,2	K562	blood:
31	chr19:41253175..41255589-chr19:41255801..41257660,2	MCF-7	breast:
32	chr19:41081293..41083629-chr19:41254991..41257076,2	K562	blood:
33	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
34	chr19:41256161..41256925-chrX:47053141..47053776,2	Hela-S3	cervix:
35	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
36	chr19:41222057..41222984-chr19:41256051..41256852,2	MCF-7	breast:
37	chr19:41221097..41222684-chr19:41249290..41252437,3	MCF-7	breast:
38	chr13:111365475..111366292-chr19:41255848..41256558,2	Hela-S3	cervix:
39	chr19:41219701..41226727-chr19:41253156..41258804,17	K562	blood:
40	chr19:41241471..41243088-chr19:41248764..41251353,2	MCF-7	breast:
41	chr19:41244887..41248770-chr19:41248882..41252217,6	K562	blood:
42	chr19:41256565..41257275-chr21:34696582..34697135,2	Hela-S3	cervix:
43	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
44	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
45	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
46	chr19:41256649..41257247-chr2:27579653..27580386,2	Hela-S3	cervix:
47	chr15:78857354..78857892-chr19:41256509..41257119,2	Hela-S3	cervix:
48	chr19:41255216..41257049-chr19:41286171..41288357,2	MCF-7	breast:
49	chr11:118661571..118662155-chr19:41256440..41257210,2	Hela-S3	cervix:
50	chr19:41256382..41257161-chr5:41869993..41870560,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
C19orf54	TF binding region
SNRPA	TF binding region
C19orf54	CpG island
SNRPA	CpG island
ENSG00000163257	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000138685	chromatin interactions
ENSG00000115207	chromatin interactions
ENSG00000110367	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000234072	chromatin interactions
ENSG00000147123	chromatin interactions
ENSG00000132300	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000248668	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000168612	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000169684	chromatin interactions
ENSG00000167578	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000142166	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000109805	chromatin interactions
ENSG00000068654	chromatin interactions
ENSG00000213064	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000160410	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000261857	chromatin interactions
ENSG00000253069	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000130985	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000086544	chromatin interactions
ENSG00000105323	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3745216	chr19:41249508-41249509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555244219	chr19:41249558-41249559	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs56864941	chr19:41249574-41249575	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs576737748	chr19:41249613-41249614	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs77222831	chr19:41249684-41249685	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs369784768	chr19:41249763-41249764	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs553110185	chr19:41249782-41249783	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs559161984	chr19:41249796-41249797	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs200542327	chr19:41249798-41249799	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs373306511	chr19:41249807-41249808	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs376524729	chr19:41249820-41249821	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs146533027	chr19:41249821-41249822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs201803790	chr19:41249845-41249846	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs3745217	chr19:41249853-41249854	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs375933809	chr19:41249854-41249855	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs370410915	chr19:41249874-41249875	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs374859846	chr19:41249877-41249878	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs368233017	chr19:41249883-41249884	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs372396984	chr19:41249905-41249906	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs371236359	chr19:41249918-41249919	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs199898010	chr19:41249921-41249922	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs186909685	chr19:41249938-41249939	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs112218599	chr19:41249940-41249941	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs530680595	chr19:41249941-41249942	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs566840488	chr19:41249953-41249954	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs374563499	chr19:41249963-41249964	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs368657342	chr19:41249977-41249978	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs202030266	chr19:41249983-41249984	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs112664988	chr19:41249984-41249985	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs200844018	chr19:41249985-41249986	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs371552890	chr19:41249989-41249990	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs140185254	chr19:41249996-41249997	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs142440329	chr19:41250012-41250013	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs151306411	chr19:41250019-41250020	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs376428005	chr19:41250029-41250030	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs140541308	chr19:41250030-41250031	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs202026841	chr19:41250031-41250032	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs375933396	chr19:41250062-41250063	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs554998239	chr19:41250066-41250067	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs570379635	chr19:41250072-41250073	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs150332815	chr19:41250092-41250093	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs78171740	chr19:41250097-41250098	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs141786840	chr19:41250098-41250099	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs577503943	chr19:41250125-41250126	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs145424519	chr19:41250126-41250127	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs34509595	chr19:41250141-41250142	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs553010457	chr19:41250148-41250149	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs374206573	chr19:41250150-41250151	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs147685391	chr19:41250151-41250152	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs541822929	chr19:41250172-41250173	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41227000-41254600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:41227200-41255200	Weak transcription	Fetal Heart	heart
3	chr19:41228600-41250000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:41228600-41251000	Strong transcription	Fetal Brain Female	brain
5	chr19:41229800-41250400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:41237000-41255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:41237600-41255200	Weak transcription	Fetal Brain Male	brain
8	chr19:41239400-41250000	Strong transcription	Spleen	Spleen
9	chr19:41240200-41255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:41241600-41251000	Weak transcription	NH-A	brain
11	chr19:41242000-41250600	Strong transcription	Fetal Intestine Small	intestine
12	chr19:41242000-41253800	Weak transcription	GM12878-XiMat	blood
13	chr19:41242200-41255600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:41242400-41251000	Weak transcription	Hela-S3	cervix
15	chr19:41242600-41250200	Strong transcription	Fetal Intestine Large	intestine
16	chr19:41243200-41251200	Weak transcription	Fetal Kidney	kidney
17	chr19:41243400-41254400	Weak transcription	Psoas Muscle	Psoas
18	chr19:41243600-41255600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:41243800-41255400	Weak transcription	HSMM	muscle
20	chr19:41244000-41250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:41245000-41250200	Genic enhancers	Placenta	Placenta
22	chr19:41245000-41251000	Weak transcription	HUVEC	blood vessel
23	chr19:41245000-41254600	Weak transcription	Stomach Mucosa	stomach
24	chr19:41245000-41255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:41245200-41254400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:41245600-41251000	Weak transcription	Osteobl	bone
27	chr19:41245600-41251200	Weak transcription	HSMMtube	muscle
28	chr19:41245600-41255600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:41245800-41249600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr19:41245800-41249800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:41245800-41255400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:41246000-41250000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:41246000-41255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:41246200-41251000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:41246200-41254400	Weak transcription	Brain Substantia Nigra	brain
36	chr19:41246200-41255400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:41246200-41255400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:41246200-41255400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:41246200-41255600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:41246200-41255600	Weak transcription	Small Intestine	intestine
41	chr19:41246200-41256000	Weak transcription	Aorta	Aorta
42	chr19:41246400-41249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:41246400-41250600	Weak transcription	A549	lung
44	chr19:41246400-41254600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:41246400-41255000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:41246400-41255800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:41246600-41249800	Weak transcription	Brain Anterior Caudate	brain
48	chr19:41246600-41249800	Weak transcription	Right Ventricle	heart
49	chr19:41246600-41250800	Strong transcription	Fetal Stomach	stomach
50	chr19:41246600-41254200	Weak transcription	Fetal Thymus	thymus

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