Variant report

Variant	nsv1062755
Chromosome Location	chr19:40737463-40758235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40738512-40738533	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:40737515-40737692	HepG2	liver:	n/a	n/a
3	ATF3	chr19:40737432-40737686	K562	blood:	n/a	n/a
4	ATF3	chr19:40737445-40737756	HepG2	liver:	n/a	n/a
5	BCL3	chr19:40737149-40738156	A549	lung:	n/a	n/a
6	BHLHE40	chr19:40737443-40737691	HepG2	liver:	n/a	n/a
7	BHLHE40	chr19:40737383-40738145	K562	blood:	n/a	n/a
8	BHLHE40	chr19:40738463-40738701	K562	blood:	n/a	n/a
9	BHLHE40	chr19:40737417-40738011	HepG2	liver:	n/a	n/a
10	CBX3	chr19:40737326-40737811	K562	blood:	n/a	n/a
11	CBX3	chr19:40738283-40738754	K562	blood:	n/a	n/a
12	CCNT2	chr19:40737408-40737770	K562	blood:	n/a	n/a
13	CEBPB	chr19:40737551-40737655	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:40738421-40738531	K562	blood:	n/a	n/a
15	CEBPD	chr19:40737438-40737885	HepG2	liver:	n/a	n/a
16	CEBPD	chr19:40737543-40737831	HepG2	liver:	n/a	n/a
17	CHD2	chr19:40737480-40737911	HepG2	liver:	n/a	n/a
18	CHD2	chr19:40737466-40737817	K562	blood:	n/a	n/a
19	CHD2	chr19:40738361-40738720	K562	blood:	n/a	n/a
20	CHD2	chr19:40738432-40738673	HepG2	liver:	n/a	n/a
21	CTCF	chr19:40741660-40741810	HPF	lung:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
22	CTCF	chr19:40741640-40741790	SAEC	small airway:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
23	CTCF	chr19:40741640-40741790	HFF-Myc	foreskin:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
24	CTCF	chr19:40741580-40741730	AG09309	skin:	n/a	n/a
25	CTCF	chr19:40741680-40741830	HMF	breast:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
26	CTCF	chr19:40741680-40741830	GM12872	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
27	CTCF	chr19:40741680-40741830	HPAF	blood vessel:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
28	CTCF	chr19:40741620-40741770	GM12867	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
29	CTCF	chr19:40741595-40741851	IMR90	lung:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
30	CTCF	chr19:40741640-40741790	A549	lung:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
31	CTCF	chr19:40741620-40741770	WERI-Rb-1	eye:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
32	CTCF	chr19:40741632-40741849	K562	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
33	CTCF	chr19:40741660-40741810	HCPEpiC	choroid plexus:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
34	CTCF	chr19:40738640-40738673	NHEK	skin:	n/a	n/a
35	CTCF	chr19:40741640-40741790	HUVEC	blood vessel:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
36	CTCF	chr19:40741620-40741770	SK-N-SH_RA	brain:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
37	CTCF	chr19:40741638-40741831	GM19238	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
38	CTCF	chr19:40758220-40758370	HMEC	breast:	n/a	n/a
39	CTCF	chr19:40741555-40741830	K562	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
40	CTCF	chr19:40741580-40741730	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr19:40741640-40741790	AG09319	gingival:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
42	CTCF	chr19:40758000-40758150	HMEC	breast:	n/a	n/a
43	CTCF	chr19:40741688-40741784	GM10266	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
44	CTCF	chr19:40741631-40741818	Gliobla	brain:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
45	CTCF	chr19:40741680-40741830	GM12865	blood:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
46	CTCF	chr19:40741640-40741790	Hela-S3	cervix:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
47	CTCF	chr19:40741620-40741770	RPTEC	kidney:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
48	CTCF	chr19:40741620-40741770	A549	lung:	n/a	chr19:40741724-40741737 chr19:40741752-40741765 chr19:40741722-40741740
49	CTCF	chr19:40741580-40741730	GM06990	blood:	n/a	n/a
50	CTCF	chr19:40741740-40741890	HCM	heart:	n/a	chr19:40741752-40741765

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40737740-40737790	HAEpiC	amniotic membrane:	n/a
2	chr19:40737740-40737790	ovcar-3	ovarian:	n/a
3	chr19:40737740-40737790	NT2-D1	testis:	n/a
4	chr19:40751858-40751908	SKMC	muscle:	n/a
5	chr19:40751858-40751908	H1-hESC	embryonic stem cell:	embryo
6	chr19:40751858-40751908	GM12892	blood:	n/a
7	chr19:40737740-40737790	HCF	heart:	n/a
8	chr19:40751858-40751908	AoSMC	blood vessel:	n/a
9	chr19:40737740-40737790	HIPEpiC	eye:	n/a
10	chr19:40751858-40751908	HMEC	breast:	n/a
11	chr19:40751858-40751908	AG09309	skin:	n/a
12	chr19:40737740-40737790	AG04450	lung:	fetal
13	chr19:40737740-40737790	GM06990	blood:	n/a
14	chr19:40751858-40751908	PrEC	prostate:	n/a
15	chr19:40737740-40737790	Caco-2	colon:	n/a
16	chr19:40737740-40737790	Jurkat	blood:	n/a
17	chr19:40737740-40737790	GM12878	blood:	n/a
18	chr19:40737740-40737790	CMK	blood:	n/a
19	chr19:40737740-40737790	HEEpiC	esophagus:	n/a
20	chr19:40751858-40751908	NH-A	brain:	n/a
21	chr19:40737740-40737790	HEK293	kidney:	embryo
22	chr19:40751858-40751908	HepG2	liver:	n/a
23	chr19:40737740-40737790	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:40751858-40751908	ProgFib	skin:	n/a
25	chr19:40737740-40737790	U87	brain:	n/a
26	chr19:40737740-40737790	AG09319	gingival:	n/a
27	chr19:40737740-40737790	AG09309	skin:	n/a
28	chr19:40737740-40737790	HCM	heart:	n/a
29	chr19:40751858-40751908	Hepatocyte	liver:	n/a
30	chr19:40737740-40737790	Hepatocyte	liver:	n/a
31	chr19:40751858-40751908	GM06990	blood:	n/a
32	chr19:40737740-40737790	GM12892	blood:	n/a
33	chr19:40737740-40737790	NH-A	brain:	n/a
34	chr19:40737740-40737790	PrEC	prostate:	n/a
35	chr19:40737740-40737790	BJ	skin:	n/a
36	chr19:40737740-40737790	Hela-S3	cervix:	n/a
37	chr19:40737740-40737790	SK-N-MC	brain:	n/a
38	chr19:40737740-40737790	HMEC	breast:	n/a
39	chr19:40737740-40737790	RPTEC	kidney:	n/a
40	chr19:40737740-40737790	IMR90	lung:	fetal
41	chr19:40737740-40737790	PANC-1	pancreas:	n/a
42	chr19:40737740-40737790	SKMC	muscle:	n/a
43	chr19:40737740-40737790	AoSMC	blood vessel:	n/a
44	chr19:40751858-40751908	HCPEpiC	choroid plexus:	n/a
45	chr19:40751858-40751908	AG09319	gingival:	n/a
46	chr19:40751858-40751908	Caco-2	colon:	n/a
47	chr19:40751858-40751908	HIPEpiC	eye:	n/a
48	chr19:40751858-40751908	GM19239	blood:	n/a
49	chr19:40751858-40751908	RPTEC	kidney:	n/a
50	chr19:40751858-40751908	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40732606..40735043-chr19:40736232..40738956,2	K562	blood:
2	chr19:40728992..40731621-chr19:40735864..40738541,3	K562	blood:
3	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
4	chr19:40757204..40758764-chr19:40774239..40776253,2	K562	blood:
5	chr19:40730457..40732107-chr19:40746793..40748406,2	MCF-7	breast:
6	chr19:40736720..40741002-chr19:40742937..40745961,5	K562	blood:
7	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
8	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:
9	chr19:40731653..40734118-chr19:40736844..40738544,2	MCF-7	breast:
10	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
11	chr19:40732755..40733312-chr19:40755398..40756094,2	MCF-7	breast:
12	chr19:40746507..40749034-chr19:40749901..40751932,2	K562	blood:
13	chr19:40752594..40756116-chr19:40758257..40762594,4	K562	blood:
14	chr19:40742212..40745152-chr19:40750527..40752389,2	MCF-7	breast:
15	chr19:40749209..40752062-chr19:40757715..40759395,2	K562	blood:
16	chr19:40730680..40732953-chr19:40742312..40745155,2	K562	blood:
17	chr19:40735147..40737446-chr19:40752058..40754215,2	MCF-7	breast:
18	chr19:40735441..40737770-chr19:40748131..40750803,2	MCF-7	breast:
19	chr19:40753793..40756540-chr19:40760904..40762760,3	K562	blood:
20	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:
21	chr19:40736338..40739484-chr19:40789317..40792416,3	MCF-7	breast:
22	chr19:40757637..40759923-chr19:40784996..40787780,2	K562	blood:
23	chr19:40746507..40749034-chr19:40749901..40751932,2	K562	blood:
24	chr19:40734116..40737610-chr19:40738895..40742001,3	MCF-7	breast:
25	chr19:40754146..40755800-chr19:40763608..40765954,2	K562	blood:
26	chr19:40737463..40738963-chr19:40741419..40742987,2	MCF-7	breast:
27	chr19:40730620..40735723-chr19:40738673..40743679,8	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AKT2	hsa-miR-124-3p	chr19:40739032-40739025
2	AKT2	hsa-miR-149-5p	chr19:40740602-40740626

Variant related genes	Relation type
CNTD2	TF binding region
AKT2	TF binding region
CNTD2	CpG island
AKT2	CpG island
ENSG00000105219	chromatin interactions
ENSG00000105221	chromatin interactions

Extended variants
information (count: 848 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529712450	chr19:40737496-40737497	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539123721	chr19:40737552-40737553	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs548280379	chr19:40737577-40737578	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563096363	chr19:40737585-40737586	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530527981	chr19:40737592-40737593	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552183523	chr19:40737595-40737596	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570798094	chr19:40737622-40737623	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537722117	chr19:40737623-40737624	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs58971822	chr19:40737625-40737626	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs8111547	chr19:40737630-40737631	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372988345	chr19:40737647-40737648	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546791073	chr19:40737664-40737665	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568280118	chr19:40737669-40737670	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536310687	chr19:40737710-40737711	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116514473	chr19:40737741-40737742	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369532411	chr19:40737779-40737780	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576356489	chr19:40737784-40737785	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112641411	chr19:40737843-40737844	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537494504	chr19:40737854-40737855	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558808793	chr19:40737861-40737862	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150508184	chr19:40737870-40737871	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184160447	chr19:40737945-40737946	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140298279	chr19:40737987-40737988	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530467989	chr19:40737999-40738000	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144053442	chr19:40738010-40738011	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563443135	chr19:40738014-40738015	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147329443	chr19:40738015-40738016	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552182357	chr19:40738020-40738021	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557611072	chr19:40738021-40738022	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528362334	chr19:40738028-40738029	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549882888	chr19:40738039-40738040	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375216036	chr19:40738042-40738043	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs41275748	chr19:40738050-40738051	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs41275750	chr19:40738095-40738096	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375232480	chr19:40738110-40738111	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529133488	chr19:40738125-40738126	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548384201	chr19:40738127-40738128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570168496	chr19:40738129-40738130	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537029863	chr19:40738156-40738157	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555931423	chr19:40738218-40738219	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570526739	chr19:40738220-40738221	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534945416	chr19:40738256-40738257	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188407538	chr19:40738271-40738272	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574929065	chr19:40738308-40738309	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373762059	chr19:40738324-40738325	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149821698	chr19:40738331-40738332	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556763599	chr19:40738343-40738344	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs575323266	chr19:40738363-40738364	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145836031	chr19:40738371-40738372	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564031685	chr19:40738416-40738417	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	21569311	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
Anaplastic thyroid cancer	18753363	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:40732600-40737600	Weak transcription	Brain Anterior Caudate	brain
3	chr19:40732600-40739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:40732800-40737600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:40732800-40737600	Weak transcription	Lung	lung
7	chr19:40732800-40737600	Weak transcription	Right Ventricle	heart
8	chr19:40732800-40738000	Weak transcription	Ovary	ovary
9	chr19:40732800-40738000	Weak transcription	Pancreas	Pancrea
10	chr19:40732800-40738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:40732800-40738400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:40732800-40738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40732800-40738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:40732800-40739200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:40732800-40740800	Weak transcription	HMEC	breast
18	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:40733000-40737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:40733000-40738000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:40733000-40738000	Weak transcription	Dnd41	blood
22	chr19:40733000-40739000	Enhancers	Placenta	Placenta
23	chr19:40733000-40739000	Weak transcription	Gastric	stomach
24	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
25	chr19:40733600-40738000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:40734000-40737600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
28	chr19:40734200-40738600	Weak transcription	Esophagus	oesophagus
29	chr19:40734200-40739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:40734400-40738000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:40734400-40738000	Weak transcription	Thymus	Thymus
32	chr19:40734400-40738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:40734600-40737800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:40734600-40738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:40734600-40738400	Weak transcription	Fetal Brain Female	brain
36	chr19:40734600-40739000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:40734800-40737600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:40734800-40738200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:40734800-40738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:40734800-40740200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:40735000-40738000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr19:40735000-40738400	Weak transcription	Fetal Thymus	thymus
43	chr19:40735000-40738600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:40735000-40740800	Weak transcription	Primary B cells from cord blood	blood
45	chr19:40735200-40737600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:40735200-40738600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:40735200-40738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:40735400-40737600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr19:40735600-40737800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:40735600-40738400	Enhancers	Adipose Nuclei	Adipose

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