Variant report

Variant	rs57956437
Chromosome Location	chr19:44556033-44556034
allele	C/T
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	MAX	chr19:44555762-44556350	GM12878	blood:	n/a	n/a
2	YY1	chr19:44555836-44556314	GM12891	blood:	n/a	n/a
3	BCLAF1	chr19:44555924-44556225	GM12878	blood:	n/a	chr19:44556174-44556183
4	RFX5	chr19:44555919-44556191	HepG2	liver:	n/a	n/a
5	SP1	chr19:44555680-44556396	H1-hESC	embryonic stem cell:	n/a	chr19:44556352-44556364 chr19:44556115-44556127 chr19:44556116-44556126 chr19:44556115-44556127 chr19:44556353-44556362 chr19:44556117-44556126
6	GATA3	chr19:44555312-44556611	A549	lung:	n/a	n/a
7	SMC3	chr19:44555774-44556103	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44555763-44556042	HepG2	liver:	n/a	n/a
9	YY1	chr19:44555845-44556388	GM12892	blood:	n/a	n/a
10	GABPA	chr19:44555801-44556361	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT1	chr19:44555064-44556407	Hela-S3	cervix:	n/a	chr19:44555994-44556002 chr19:44556063-44556071 chr19:44555813-44555833 chr19:44555973-44555981 chr19:44555971-44555982 chr19:44555992-44556003 chr19:44555988-44556008
12	POLR2A	chr19:44555722-44556375	U87	brain:	n/a	n/a
13	YY1	chr19:44555690-44556391	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr19:44555869-44556593	HepG2	liver:	n/a	n/a
15	CBX3	chr19:44555607-44556090	K562	blood:	n/a	n/a
16	MAZ	chr19:44555643-44556443	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:44555739-44556875	HepG2	liver:	n/a	n/a
18	NFIC	chr19:44555715-44556459	HepG2	liver:	n/a	n/a
19	YY1	chr19:44555814-44556372	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:44555967-44556423	K562	blood:	n/a	n/a
21	EBF1	chr19:44555602-44556552	GM12878	blood:	n/a	chr19:44556306-44556316
22	POLR2A	chr19:44555158-44556552	MCF-7	breast:	n/a	n/a
23	ZEB1	chr19:44555661-44556460	GM12878	blood:	n/a	chr19:44556046-44556055
24	ATF1	chr19:44555739-44556239	K562	blood:	n/a	n/a
25	ETS1	chr19:44555829-44556283	GM12878	blood:	n/a	chr19:44555997-44556010 chr19:44556172-44556182 chr19:44556174-44556183 chr19:44556174-44556183 chr19:44556171-44556187 chr19:44556113-44556124 chr19:44556174-44556183 chr19:44555996-44556007 chr19:44556174-44556183 chr19:44555998-44556011 chr19:44556174-44556183 chr19:44555977-44555990 chr19:44556174-44556183 chr19:44556172-44556183 chr19:44556174-44556183 chr19:44556138-44556151
26	STAT1	chr19:44555880-44556359	GM12878	blood:	n/a	chr19:44555994-44556002 chr19:44556063-44556071 chr19:44555973-44555981 chr19:44555971-44555982 chr19:44555992-44556003 chr19:44555988-44556008
27	POLR2A	chr19:44555250-44556537	MCF-7	breast:	n/a	n/a
28	TBL1XR1	chr19:44555758-44556249	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:44555903-44556583	HepG2	liver:	n/a	n/a
30	TAF1	chr19:44555739-44556410	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELF1	chr19:44555487-44556409	A549	lung:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
32	SIN3A	chr19:44555959-44556349	GM12878	blood:	n/a	n/a
33	YY1	chr19:44555703-44556475	SK-N-SH_RA	brain:	n/a	n/a
34	ELF1	chr19:44555630-44556444	A549	lung:	n/a	chr19:44556174-44556185 chr19:44556174-44556185
35	POLR2A	chr19:44555852-44556416	Gliobla	brain:	n/a	n/a
36	STAT1	chr19:44555782-44556172	K562	blood:	n/a	chr19:44555994-44556002 chr19:44556063-44556071 chr19:44555813-44555833 chr19:44555973-44555981 chr19:44555971-44555982 chr19:44555992-44556003 chr19:44555988-44556008
37	SIX5	chr19:44555828-44556218	K562	blood:	n/a	chr19:44556000-44556009 chr19:44555998-44556007
38	TCF12	chr19:44555317-44556615	A549	lung:	n/a	n/a
39	KAP1	chr19:44555513-44556232	HEK293	kidney:	n/a	n/a
40	USF1	chr19:44555883-44556277	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr19:44555752-44556590	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:44555722-44556369	U87	brain:	n/a	n/a
43	BHLHE40	chr19:44555765-44556207	K562	blood:	n/a	n/a
44	POLR2A	chr19:44555583-44556501	HUVEC	blood vessel:	n/a	n/a
45	NFIC	chr19:44555700-44556400	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr19:44556015-44556332	H1-hESC	embryonic stem cell:	n/a	n/a
47	TBL1XR1	chr19:44555800-44556035	K562	blood:	n/a	n/a
48	SIN3AK20	chr19:44555659-44556342	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAZ	chr19:44555754-44556275	K562	blood:	n/a	n/a
50	SP1	chr19:44555706-44556345	GM12878	blood:	n/a	chr19:44556115-44556127 chr19:44556116-44556126 chr19:44556115-44556127 chr19:44556117-44556126

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44555997-44556047	GM19239	blood:	n/a
2	chr19:44555997-44556047	GM12878	blood:	n/a
3	chr19:44555997-44556047	T-47D	breast:	n/a
4	chr19:44555997-44556047	HCPEpiC	choroid plexus:	n/a
5	chr19:44555997-44556047	AG04449	skin:	fetal
6	chr19:44555997-44556047	AG09309	skin:	n/a
7	chr19:44555997-44556047	PrEC	prostate:	n/a
8	chr19:44555997-44556047	HCT-116	colon:	n/a
9	chr19:44555997-44556047	HRPEpiC	eye:	n/a
10	chr19:44555997-44556047	NB4	blood:	n/a
11	chr19:44555997-44556047	IMR90	lung:	fetal
12	chr19:44555997-44556047	SK-N-SH	brain:	n/a
13	chr19:44555997-44556047	RPTEC	kidney:	n/a
14	chr19:44555997-44556047	AG04450	lung:	fetal
15	chr19:44555997-44556047	HepG2	liver:	n/a
16	chr19:44555997-44556047	HNPCEpiC	eye:	n/a
17	chr19:44555997-44556047	LNCaP	prostate:	n/a
18	chr19:44555997-44556047	Jurkat	blood:	n/a
19	chr19:44555997-44556047	Hepatocyte	liver:	n/a
20	chr19:44555997-44556047	HIPEpiC	eye:	n/a
21	chr19:44555997-44556047	MCF10A-Er-Src	breast:	n/a
22	chr19:44555997-44556047	HUVEC	blood vessel:	n/a
23	chr19:44555997-44556047	PFSK-1	brain:	n/a
24	chr19:44555997-44556047	BJ	skin:	n/a
25	chr19:44555997-44556047	NHBE	bronchial:	n/a
26	chr19:44555997-44556047	NT2-D1	testis:	n/a
27	chr19:44555997-44556047	AG09319	gingival:	n/a
28	chr19:44555997-44556047	SK-N-MC	brain:	n/a
29	chr19:44555997-44556047	U87	brain:	n/a
30	chr19:44555997-44556047	HRE	kidney:	n/a
31	chr19:44555997-44556047	ovcar-3	ovarian:	n/a
32	chr19:44555997-44556047	NHDF-neo	bronchial:	n/a
33	chr19:44555997-44556047	NH-A	brain:	n/a
34	chr19:44555997-44556047	SAEC	small airway:	n/a
35	chr19:44555997-44556047	A549	lung:	n/a
36	chr19:44555997-44556047	AoSMC	blood vessel:	n/a
37	chr19:44555997-44556047	HEEpiC	esophagus:	n/a
38	chr19:44555997-44556047	HPAEpiC	pulmonary alveolar:	n/a
39	chr19:44555997-44556047	HRCEpiC	kidney:	n/a
40	chr19:44555997-44556047	HL-60	blood:	n/a
41	chr19:44555997-44556047	H1-hESC	embryonic stem cell:	embryo
42	chr19:44555997-44556047	BE2_C	brain:	n/a
43	chr19:44555997-44556047	GM06990	blood:	n/a
44	chr19:44555997-44556047	HCF	heart:	n/a
45	chr19:44555997-44556047	GM12892	blood:	n/a
46	chr19:44555997-44556047	Hela-S3	cervix:	n/a
47	chr19:44555997-44556047	CMK	blood:	n/a
48	chr19:44555997-44556047	ProgFib	skin:	n/a
49	chr19:44555997-44556047	HEK293	kidney:	embryo
50	chr19:44555997-44556047	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44554851..44557017-chr19:44574695..44576778,3	MCF-7	breast:
2	chr19:44555396..44557599-chr19:44598429..44600981,2	MCF-7	breast:
3	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:
4	chr19:44487777..44490285-chr19:44555817..44558004,3	MCF-7	breast:
5	chr19:44555737..44557669-chr19:44596681..44600019,3	MCF-7	breast:

Variant related genes	Relation type
ZNF223	TF binding region
ZNF223	CpG island
ENSG00000204920	Chromatin interaction
ENSG00000267680	Chromatin interaction
ENSG00000186026	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10164312	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878320	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883048	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883052	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12983129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056761	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254182	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556279	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558203	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558209	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558211	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558212	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558215	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558221	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558222	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558227	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44554800-44556400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr19:44554800-44556800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr19:44554800-44556800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:44554800-44556800	Active TSS	Psoas Muscle	Psoas
5	chr19:44554800-44557000	Active TSS	Colonic Mucosa	Colon
6	chr19:44554800-44557000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr19:44554800-44557200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:44554800-44557200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:44555000-44556400	Active TSS	Primary T cells from cord blood	blood
10	chr19:44555000-44556400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:44555000-44556400	Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr19:44555000-44556400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:44555000-44556600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:44555000-44556800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:44555000-44556800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:44555000-44556800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:44555000-44556800	Active TSS	Fetal Kidney	kidney
18	chr19:44555000-44556800	Active TSS	Thymus	Thymus
19	chr19:44555000-44556800	Active TSS	A549	lung
20	chr19:44555000-44557000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr19:44555000-44557200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:44555000-44557200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44555000-44557200	Active TSS	Fetal Intestine Large	intestine
24	chr19:44555000-44557400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:44555000-44557600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:44555200-44556400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:44555200-44556600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:44555200-44556600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:44555200-44556600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:44555200-44556800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44555200-44556800	Active TSS	Stomach Mucosa	stomach
32	chr19:44555200-44556800	Active TSS	K562	blood
33	chr19:44555200-44556800	Active TSS	NHDF-Ad	bronchial
34	chr19:44555200-44557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr19:44555200-44557000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:44555200-44557000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:44555200-44557600	Active TSS	Fetal Intestine Small	intestine
38	chr19:44555200-44557600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr19:44555400-44556400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr19:44555400-44556600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:44555400-44556600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:44555400-44556800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44555400-44556800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:44555400-44556800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:44555400-44556800	Active TSS	Fetal Lung	lung
46	chr19:44555400-44556800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr19:44555400-44557000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:44555400-44557400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:44555600-44556600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr19:44555600-44556600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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