Variant report

Variant	rs4808925
Chromosome Location	chr19:19249379-19249380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:321)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19249015-19249442	GM19099	blood:	n/a	n/a
2	SP2	chr19:19249022-19249604	H1-hESC	embryonic stem cell:	n/a	chr19:19249328-19249351
3	SIX5	chr19:19249112-19249658	GM12878	blood:	n/a	chr19:19249409-19249423
4	CHD2	chr19:19249045-19249566	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:19249001-19249463	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:19248524-19249518	Raji	blood:	n/a	n/a
7	HDAC2	chr19:19249113-19249593	K562	blood:	n/a	n/a
8	POLR2A	chr19:19249009-19249441	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr19:19249081-19249714	K562	blood:	n/a	n/a
10	MAX	chr19:19248895-19249566	A549	lung:	n/a	n/a
11	CREB1	chr19:19249089-19249609	ECC-1	luminal epithelium:	n/a	n/a
12	CHD2	chr19:19249088-19249453	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:19248925-19249529	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:19248991-19249457	MCF-7	breast:	n/a	n/a
15	MYC	chr19:19249013-19249670	K562	blood:	n/a	n/a
16	MAX	chr19:19248831-19249621	ECC-1	luminal epithelium:	n/a	n/a
17	POU2F2	chr19:19249077-19249523	GM12891	blood:	n/a	n/a
18	TAF1	chr19:19248961-19249455	K562	blood:	n/a	n/a
19	JUND	chr19:19249130-19249455	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:19248918-19249452	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr19:19249066-19249441	A549	lung:	n/a	n/a
22	SP1	chr19:19249056-19249599	GM12878	blood:	n/a	chr19:19249301-19249322
23	GABPA	chr19:19249151-19249558	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr19:19249132-19249607	H1-hESC	embryonic stem cell:	n/a	n/a
25	GABPA	chr19:19249205-19249596	A549	lung:	n/a	n/a
26	POLR2A	chr19:19249000-19249383	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr19:19248953-19249475	SK-N-SH	brain:	n/a	n/a
28	YY1	chr19:19249046-19249618	ECC-1	luminal epithelium:	n/a	n/a
29	SP1	chr19:19249043-19249655	H1-hESC	embryonic stem cell:	n/a	chr19:19249301-19249322
30	SIX5	chr19:19249125-19249542	H1-hESC	embryonic stem cell:	n/a	chr19:19249409-19249423
31	MAX	chr19:19248891-19249580	MCF-7	breast:	n/a	n/a
32	MYC	chr19:19249126-19249437	K562	blood:	n/a	n/a
33	MAX	chr19:19248429-19249707	K562	blood:	n/a	n/a
34	GATA2	chr19:19249210-19249684	HUVEC	blood vessel:	n/a	n/a
35	NFYB	chr19:19248922-19249782	GM12878	blood:	n/a	chr19:19249342-19249356 chr19:19249342-19249355 chr19:19249342-19249357 chr19:19249342-19249357 chr19:19249300-19249315 chr19:19249339-19249354 chr19:19249300-19249315
36	NFIC	chr19:19249048-19249544	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:19248925-19249451	K562	blood:	n/a	n/a
38	FOS	chr19:19249136-19249568	K562	blood:	n/a	n/a
39	CCNT2	chr19:19248503-19249397	K562	blood:	n/a	n/a
40	POLR2A	chr19:19248955-19249522	PBDE	blood:	n/a	n/a
41	POLR2A	chr19:19249029-19249438	GM18526	blood:	n/a	n/a
42	ETS1	chr19:19249129-19249479	A549	lung:	n/a	chr19:19249409-19249422
43	IRF1	chr19:19249053-19249703	K562	blood:	n/a	chr19:19249497-19249511 chr19:19249501-19249511
44	POLR2A	chr19:19248977-19249436	GM12878	blood:	n/a	n/a
45	CHD2	chr19:19248568-19249699	K562	blood:	n/a	n/a
46	E2F6	chr19:19248897-19249385	K562	blood:	n/a	chr19:19249344-19249353
47	TCF7L2	chr19:19249094-19250138	HEK293	kidney:	n/a	chr19:19249443-19249452
48	MAX	chr19:19248888-19249490	K562	blood:	n/a	n/a
49	MAX	chr19:19248646-19249702	HepG2	liver:	n/a	n/a
50	MAX	chr19:19249049-19249587	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19249331-19249381	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:19249331-19249381	BE2_C	brain:	n/a
3	chr19:19249331-19249381	PFSK-1	brain:	n/a
4	chr19:19249331-19249381	Hepatocyte	liver:	n/a
5	chr19:19249331-19249381	SK-N-MC	brain:	n/a
6	chr19:19249331-19249381	GM06990	blood:	n/a
7	chr19:19249331-19249381	HAEpiC	amniotic membrane:	n/a
8	chr19:19249331-19249381	HUVEC	blood vessel:	n/a
9	chr19:19249331-19249381	NH-A	brain:	n/a
10	chr19:19249331-19249381	HIPEpiC	eye:	n/a
11	chr19:19249331-19249381	PANC-1	pancreas:	n/a
12	chr19:19249331-19249381	NHBE	bronchial:	n/a
13	chr19:19249331-19249381	ProgFib	skin:	n/a
14	chr19:19249331-19249381	NHDF-neo	bronchial:	n/a
15	chr19:19249331-19249381	Hela-S3	cervix:	n/a
16	chr19:19249331-19249381	SK-N-SH_RA	brain:	n/a
17	chr19:19249331-19249381	LNCaP	prostate:	n/a
18	chr19:19249331-19249381	HCPEpiC	choroid plexus:	n/a
19	chr19:19249331-19249381	ovcar-3	ovarian:	n/a
20	chr19:19249331-19249381	SKMC	muscle:	n/a
21	chr19:19249331-19249381	HRCEpiC	kidney:	n/a
22	chr19:19249331-19249381	U87	brain:	n/a
23	chr19:19249331-19249381	HRE	kidney:	n/a
24	chr19:19249331-19249381	MCF-7	breast:	n/a
25	chr19:19249331-19249381	T-47D	breast:	n/a
26	chr19:19249331-19249381	ECC-1	luminal epithelium:	n/a
27	chr19:19249331-19249381	GM19239	blood:	n/a
28	chr19:19249331-19249381	HCF	heart:	n/a
29	chr19:19249331-19249381	AoSMC	blood vessel:	n/a
30	chr19:19249331-19249381	Caco-2	colon:	n/a
31	chr19:19249331-19249381	GM12878	blood:	n/a
32	chr19:19249331-19249381	HEEpiC	esophagus:	n/a
33	chr19:19249331-19249381	HRPEpiC	eye:	n/a
34	chr19:19249331-19249381	GM12892	blood:	n/a
35	chr19:19249331-19249381	Jurkat	blood:	n/a
36	chr19:19249331-19249381	HMEC	breast:	n/a
37	chr19:19249331-19249381	GM12891	blood:	n/a
38	chr19:19249331-19249381	AG09309	skin:	n/a
39	chr19:19249331-19249381	RPTEC	kidney:	n/a
40	chr19:19249331-19249381	A549	lung:	n/a
41	chr19:19249331-19249381	SK-N-SH	brain:	n/a
42	chr19:19249331-19249381	NB4	blood:	n/a
43	chr19:19249331-19249381	K562	blood:	n/a
44	chr19:19249331-19249381	BJ	skin:	n/a
45	chr19:19249331-19249381	H1-hESC	embryonic stem cell:	embryo
46	chr19:19249331-19249381	SAEC	small airway:	n/a
47	chr19:19249331-19249381	HepG2	liver:	n/a
48	chr19:19249331-19249381	CMK	blood:	n/a
49	chr19:19249331-19249381	HCM	heart:	n/a
50	chr19:19249331-19249381	PrEC	prostate:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19229745..19232931-chr19:19245473..19249545,7	K562	blood:
2	chr19:19142872..19145120-chr19:19247673..19249634,2	K562	blood:
3	chr19:19172595..19175925-chr19:19247411..19251399,4	MCF-7	breast:
4	chr19:19163080..19165123-chr19:19247773..19249964,2	MCF-7	breast:
5	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:
6	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:
7	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
8	chr19:19164507..19166528-chr19:19249184..19251105,2	K562	blood:
9	chr19:19239875..19242628-chr19:19248589..19251207,2	MCF-7	breast:
10	chr19:19231565..19233843-chr19:19248127..19250421,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM161A	TF binding region
TMEM161A	CpG island
ENSG00000064545	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10417318	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787041	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4353576	0.82[JPT][hapmap]
rs7248977	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7250310	0.82[JPT][hapmap]
rs72993464	0.83[ASN][1000 genomes]
rs72993466	0.91[ASN][1000 genomes]
rs72993474	0.91[ASN][1000 genomes]
rs72993480	0.87[ASN][1000 genomes]
rs72993489	0.96[ASN][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19247800-19249400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:19247800-19249800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19247800-19249800	Flanking Active TSS	Dnd41	blood
4	chr19:19248000-19249400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:19248000-19249600	Active TSS	NHLF	lung
6	chr19:19248200-19249400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:19248200-19249400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:19248200-19249400	Active TSS	HSMM	muscle
9	chr19:19248200-19249400	Active TSS	HSMMtube	muscle
10	chr19:19248200-19249600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:19248200-19249800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:19248400-19249400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:19248400-19249400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr19:19248400-19249400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:19248400-19249400	Flanking Active TSS	Fetal Thymus	thymus
16	chr19:19248400-19249600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:19248400-19249600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:19248400-19249600	Active TSS	NHEK	skin
19	chr19:19248400-19249800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr19:19248400-19249800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:19248600-19249400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:19248600-19249400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:19248600-19249400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:19248600-19249400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:19248600-19249400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr19:19248600-19249400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr19:19248600-19249400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:19248600-19249400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:19248600-19249400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:19248600-19249400	Active TSS	Aorta	Aorta
31	chr19:19248600-19249400	Active TSS	Fetal Intestine Small	intestine
32	chr19:19248600-19249400	Active TSS	Fetal Kidney	kidney
33	chr19:19248600-19249400	Active TSS	Fetal Lung	lung
34	chr19:19248600-19249400	Active TSS	A549	lung
35	chr19:19248600-19249400	Active TSS	K562	blood
36	chr19:19248600-19249400	Active TSS	NHDF-Ad	bronchial
37	chr19:19248600-19249600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:19248600-19249600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:19248600-19249600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr19:19248600-19249600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:19248600-19249600	Active TSS	Colon Smooth Muscle	Colon
42	chr19:19248600-19249600	Active TSS	Psoas Muscle	Psoas
43	chr19:19248600-19249600	Active TSS	HepG2	liver
44	chr19:19248600-19249800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr19:19248600-19249800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:19248600-19249800	Active TSS	Brain Anterior Caudate	brain
47	chr19:19248800-19249400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr19:19248800-19249400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:19248800-19249400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:19248800-19249400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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