Variant report

Variant	esv3361438
Chromosome Location	chr19:38875337-38877885
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	BCL3	chr19:38874813-38876285	A549	lung:	n/a	n/a
2	BCL3	chr19:38877853-38879450	A549	lung:	n/a	n/a
3	BCL3	chr19:38877842-38879405	A549	lung:	n/a	n/a
4	BCL3	chr19:38875067-38876014	A549	lung:	n/a	n/a
5	BHLHE40	chr19:38877875-38878197	K562	blood:	n/a	chr19:38878001-38878017
6	CCNT2	chr19:38876270-38877985	K562	blood:	n/a	n/a
7	CHD1	chr19:38875344-38875553	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr19:38875159-38876157	K562	blood:	n/a	n/a
9	CHD2	chr19:38876961-38876993	K562	blood:	n/a	n/a
10	CHD2	chr19:38876603-38876630	K562	blood:	n/a	n/a
11	CTCF	chr19:38875480-38875630	AoAF	blood vessel:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
12	CTCF	chr19:38875480-38875630	HCT-116	colon:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
13	CTCF	chr19:38875460-38875610	HFF	foreskin:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
14	CTCF	chr19:38875460-38875610	AG09319	gingival:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
15	CTCF	chr19:38875405-38875679	MCF-7	breast:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
16	CTCF	chr19:38875440-38875590	HEK293	kidney:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
17	CTCF	chr19:38877580-38877730	HRE	kidney:	n/a	n/a
18	CTCF	chr19:38875440-38875590	HPF	lung:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
19	CTCF	chr19:38875440-38875590	HMEC	breast:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
20	CTCF	chr19:38875400-38875550	GM06990	blood:	n/a	chr19:38875529-38875550 chr19:38875536-38875549
21	CTCF	chr19:38875266-38875788	MCF-7	breast:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
22	CTCF	chr19:38875420-38875570	GM12873	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
23	CTCF	chr19:38874404-38876202	A549	lung:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
24	CTCF	chr19:38875346-38875642	A549	lung:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
25	CTCF	chr19:38875396-38875696	MCF-7	breast:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
26	CTCF	chr19:38875480-38875630	GM12872	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
27	CTCF	chr19:38875580-38875730	NHEK	skin:	n/a	n/a
28	CTCF	chr19:38875411-38875677	A549	lung:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
29	CTCF	chr19:38875460-38875610	GM06990	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
30	CTCF	chr19:38875500-38875650	HAc	cerebellar:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
31	CTCF	chr19:38875440-38875590	HCM	heart:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
32	CTCF	chr19:38875440-38875590	HBMEC	blood vessel:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
33	CTCF	chr19:38875460-38875610	GM12872	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
34	CTCF	chr19:38875474-38875612	ProgFib	skin:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
35	CTCF	chr19:38875446-38875661	GM12892	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
36	CTCF	chr19:38875480-38875630	HMF	breast:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
37	CTCF	chr19:38875460-38875610	SK-N-SH_RA	brain:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
38	CTCF	chr19:38875460-38875610	HPAF	blood vessel:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
39	CTCF	chr19:38875460-38875610	HCM	heart:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
40	CTCF	chr19:38875464-38875618	GM10266	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
41	CTCF	chr19:38875460-38875610	HL-60	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
42	CTCF	chr19:38875520-38875670	HAc	cerebellar:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
43	CTCF	chr19:38877225-38877278	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr19:38875460-38875610	HA-sp	spinal cord:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
45	CTCF	chr19:38875440-38875590	GM12866	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
46	CTCF	chr19:38875436-38875644	GM19239	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
47	CTCF	chr19:38875540-38875690	WI-38	lung:	n/a	n/a
48	CTCF	chr19:38875440-38875590	HRPEpiC	eye:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
49	CTCF	chr19:38875353-38875668	K562	blood:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549
50	CTCF	chr19:38875464-38875633	Fibrobl	skin:	n/a	chr19:38875535-38875551 chr19:38875529-38875550 chr19:38875534-38875552 chr19:38875536-38875549

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38877874-38877924	AG09309	skin:	n/a
2	chr19:38876250-38876300	AoSMC	blood vessel:	n/a
3	chr19:38877874-38877924	AG09309	skin:	n/a
4	chr19:38876250-38876300	AoSMC	blood vessel:	n/a
5	chr19:38876762-38876812	HEK293	kidney:	embryo
6	chr19:38877874-38877924	HAEpiC	amniotic membrane:	n/a
7	chr19:38876666-38876716	HMEC	breast:	n/a
8	chr19:38876250-38876300	SAEC	small airway:	n/a
9	chr19:38876666-38876716	HCM	heart:	n/a
10	chr19:38876762-38876812	ProgFib	skin:	n/a
11	chr19:38876762-38876812	PrEC	prostate:	n/a
12	chr19:38877134-38877184	NH-A	brain:	n/a
13	chr19:38877220-38877270	AoSMC	blood vessel:	n/a
14	chr19:38876762-38876812	HepG2	liver:	n/a
15	chr19:38876250-38876300	HMEC	breast:	n/a
16	chr19:38877874-38877924	SAEC	small airway:	n/a
17	chr19:38877874-38877924	K562	blood:	n/a
18	chr19:38876666-38876716	SAEC	small airway:	n/a
19	chr19:38876666-38876716	HRCEpiC	kidney:	n/a
20	chr19:38877220-38877270	HRPEpiC	eye:	n/a
21	chr19:38876094-38876144	SK-N-SH_RA	brain:	n/a
22	chr19:38876762-38876812	HRPEpiC	eye:	n/a
23	chr19:38876094-38876144	H1-hESC	embryonic stem cell:	embryo
24	chr19:38876250-38876300	GM12891	blood:	n/a
25	chr19:38876160-38876210	HepG2	liver:	n/a
26	chr19:38876160-38876210	HAEpiC	amniotic membrane:	n/a
27	chr19:38876666-38876716	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:38876160-38876210	GM06990	blood:	n/a
29	chr19:38876094-38876144	HNPCEpiC	eye:	n/a
30	chr19:38876160-38876210	IMR90	lung:	fetal
31	chr19:38876160-38876210	SK-N-SH_RA	brain:	n/a
32	chr19:38876666-38876716	SKMC	muscle:	n/a
33	chr19:38876250-38876300	HAEpiC	amniotic membrane:	n/a
34	chr19:38876250-38876300	SKMC	muscle:	n/a
35	chr19:38877134-38877184	SKMC	muscle:	n/a
36	chr19:38876250-38876300	HEEpiC	esophagus:	n/a
37	chr19:38877874-38877924	U87	brain:	n/a
38	chr19:38876094-38876144	BJ	skin:	n/a
39	chr19:38876666-38876716	HCT-116	colon:	n/a
40	chr19:38877220-38877270	IMR90	lung:	fetal
41	chr19:38876250-38876300	HUVEC	blood vessel:	n/a
42	chr19:38876666-38876716	SK-N-SH_RA	brain:	n/a
43	chr19:38876094-38876144	AG09319	gingival:	n/a
44	chr19:38877134-38877184	HEEpiC	esophagus:	n/a
45	chr19:38876762-38876812	HMEC	breast:	n/a
46	chr19:38877134-38877184	GM12892	blood:	n/a
47	chr19:38876762-38876812	AG10803	skin:	n/a
48	chr19:38876762-38876812	HRCEpiC	kidney:	n/a
49	chr19:38876666-38876716	H1-hESC	embryonic stem cell:	embryo
50	chr19:38877220-38877270	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38851827..38854715-chr19:38877414..38880419,4	K562	blood:
2	chr19:38805296..38807779-chr19:38877097..38880049,2	K562	blood:
3	chr19:38724375..38725000-chr19:38875077..38875830,2	MCF-7	breast:
4	chr19:38724179..38724967-chr19:38875093..38875913,3	K562	blood:
5	chr19:38804471..38807313-chr19:38874109..38876554,2	MCF-7	breast:
6	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
7	chr19:38876175..38878484-chr19:38901904..38903905,2	K562	blood:
8	chr19:38851103..38853998-chr19:38877778..38880419,3	K562	blood:
9	chr19:38851829..38853788-chr19:38876902..38878905,2	MCF-7	breast:
10	chr19:38854277..38857061-chr19:38874070..38875932,2	K562	blood:
11	chr19:38724122..38725097-chr19:38877454..38878445,2	K562	blood:
12	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
13	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
14	chr19:38870927..38872589-chr19:38873604..38875519,2	MCF-7	breast:
15	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
16	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
17	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:

Variant related genes	Relation type
SPRED3	TF binding region
ENSG00000267090	TF binding region
SPRED3	CpG island
ENSG00000267090	CpG island
ENSG00000126247	chromatin interactions
ENSG00000167645	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000266963	chromatin interactions
ENSG00000171777	chromatin interactions
ENSG00000099338	chromatin interactions
ENSG00000011332	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563755980	chr19:38875359-38875360	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs531433684	chr19:38875419-38875420	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs11083454	chr19:38875482-38875483	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565070101	chr19:38875489-38875490	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs532443892	chr19:38875507-38875508	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs547240899	chr19:38875508-38875509	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs565356246	chr19:38875541-38875542	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs535830954	chr19:38875548-38875549	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs188610914	chr19:38875599-38875600	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs547510735	chr19:38875649-38875650	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs569732547	chr19:38875674-38875675	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs537289942	chr19:38875712-38875713	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs559116589	chr19:38875730-38875731	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs577321071	chr19:38875743-38875744	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs535361608	chr19:38875811-38875812	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs191786084	chr19:38875868-38875869	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs78554911	chr19:38875871-38875872	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs542221680	chr19:38875878-38875879	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs114414569	chr19:38875879-38875880	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs575680884	chr19:38875969-38875970	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs573139196	chr19:38875983-38875984	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs373310073	chr19:38876036-38876037	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs377492774	chr19:38876040-38876041	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs545933624	chr19:38876053-38876054	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs375436543	chr19:38876061-38876062	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs147254848	chr19:38876076-38876077	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs200060379	chr19:38876086-38876087	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs141370671	chr19:38876120-38876121	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs374524470	chr19:38876121-38876122	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs547323868	chr19:38876133-38876134	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs368901864	chr19:38876141-38876142	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs559201765	chr19:38876162-38876163	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs201339442	chr19:38876165-38876166	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs145112886	chr19:38876168-38876169	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs148338405	chr19:38876170-38876171	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs569509632	chr19:38876179-38876180	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs141214200	chr19:38876184-38876185	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs61742630	chr19:38876202-38876203	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs551958768	chr19:38876203-38876204	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs571042341	chr19:38876219-38876220	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs535213362	chr19:38876238-38876239	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs79261673	chr19:38876263-38876264	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs113643669	chr19:38876269-38876270	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs143418011	chr19:38876272-38876273	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs534749596	chr19:38876282-38876283	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs200079343	chr19:38876286-38876287	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs150853649	chr19:38876294-38876295	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs147230138	chr19:38876313-38876314	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs17853364	chr19:38876327-38876328	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs140621639	chr19:38876332-38876333	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20729466	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38866400-38876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38867000-38875600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:38867000-38877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38867000-38878000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:38867200-38875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:38867200-38877000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:38867200-38877200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:38867200-38877400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:38867400-38875800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr19:38867600-38875400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:38867600-38875600	Strong transcription	Fetal Intestine Small	intestine
12	chr19:38867600-38875800	Strong transcription	Primary T cells from cord blood	blood
13	chr19:38867600-38876000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:38867600-38876200	Strong transcription	Brain Cingulate Gyrus	brain
15	chr19:38867600-38877400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:38867800-38875400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr19:38867800-38875600	Strong transcription	Colon Smooth Muscle	Colon
18	chr19:38867800-38875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:38867800-38875800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr19:38867800-38876200	Strong transcription	Adipose Nuclei	Adipose
21	chr19:38867800-38876200	Strong transcription	Brain Hippocampus Middle	brain
22	chr19:38867800-38876600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:38867800-38877000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr19:38868000-38875600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:38868000-38875800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:38868000-38876000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:38868000-38876000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:38868000-38876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:38868000-38877600	Weak transcription	Right Atrium	heart
30	chr19:38868400-38876400	Strong transcription	Colonic Mucosa	Colon
31	chr19:38868800-38875400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:38868800-38876000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:38869400-38875400	Strong transcription	Osteobl	bone
34	chr19:38869400-38876000	Strong transcription	K562	blood
35	chr19:38869400-38876400	Strong transcription	HMEC	breast
36	chr19:38869600-38875600	Strong transcription	Psoas Muscle	Psoas
37	chr19:38869600-38875800	Strong transcription	Brain Angular Gyrus	brain
38	chr19:38869600-38876200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:38869600-38876400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:38869600-38876600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:38869600-38877400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:38869600-38877800	Strong transcription	NHLF	lung
43	chr19:38869800-38875800	Strong transcription	Brain Anterior Caudate	brain
44	chr19:38869800-38876000	Strong transcription	GM12878-XiMat	blood
45	chr19:38869800-38876200	Strong transcription	Brain Substantia Nigra	brain
46	chr19:38869800-38876200	Strong transcription	Pancreas	Pancrea
47	chr19:38870000-38876000	Strong transcription	Gastric	stomach
48	chr19:38870200-38876200	Strong transcription	Right Ventricle	heart
49	chr19:38870200-38877400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:38870400-38875800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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