Variant report

Variant	rs6036393
Chromosome Location	chr20:23345950-23345951
allele	A/G
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	POLR2A	chr20:23345662-23352219	GM12878	blood:	n/a	n/a
2	ZNF263	chr20:23345762-23346220	HEK293-T-REx	kidney:	n/a	chr20:23345931-23345952 chr20:23345910-23345931
3	POLR2A	chr20:23341279-23355011	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:23345834-23346779	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:23341069-23355530	K562	blood:	n/a	n/a
6	POLR2A	chr20:23340935-23347328	IMR90	lung:	n/a	n/a
7	POLR2A	chr20:23345812-23346836	GM12878	blood:	n/a	n/a
8	POLR2A	chr20:23345944-23346077	HepG2	liver:	n/a	n/a
9	POLR2A	chr20:23345736-23346937	K562	blood:	n/a	n/a
10	POLR2A	chr20:23345948-23346485	GM12878	blood:	n/a	n/a
11	POLR2A	chr20:23345454-23347365	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23344681..23346860-chr20:23360081..23363046,2	MCF-7	breast:
2	chr20:23345633..23349899-chr20:23400647..23404181,5	K562	blood:
3	chr20:23345633..23349899-chr20:23400854..23404181,4	K562	blood:

Variant related genes	Relation type
GZF1	TF binding region
ENSG00000201728	Chromatin interaction
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11908625	0.92[GIH][hapmap];0.85[JPT][hapmap]
rs1203994	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2153986	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281433	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2424557	0.82[LWK][hapmap]
rs56917308	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60130293	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036381	0.84[ASN][1000 genomes]
rs6036387	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036395	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036396	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036402	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048726	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6048748	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048749	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048751	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6048780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6048782	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048783	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048785	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048789	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048791	0.85[ASN][1000 genomes]
rs6048792	0.85[ASN][1000 genomes]
rs6048793	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6048794	0.83[AMR][1000 genomes]
rs6076052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6076060	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076061	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076069	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083079	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083082	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083109	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083120	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083125	1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6106650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6106652	0.83[ASN][1000 genomes]
rs6114053	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114078	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6114086	0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs73303309	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73319497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7351246	0.82[TSI][hapmap]
rs7361799	0.81[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23342400-23352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:23344000-23346000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:23344000-23347600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:23344200-23346000	Weak transcription	Fetal Brain Male	brain
6	chr20:23344200-23346600	Genic enhancers	Spleen	Spleen
7	chr20:23344400-23346200	Weak transcription	Small Intestine	intestine
8	chr20:23344400-23346400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr20:23344400-23346400	Weak transcription	Primary B cells from cord blood	blood
10	chr20:23344400-23346400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:23344400-23346400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr20:23344400-23346400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:23344400-23346400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:23344400-23346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr20:23344400-23346600	Strong transcription	Brain Angular Gyrus	brain
16	chr20:23344400-23346600	Weak transcription	Psoas Muscle	Psoas
17	chr20:23344400-23346600	Weak transcription	Hela-S3	cervix
18	chr20:23344400-23347200	Genic enhancers	Dnd41	blood
19	chr20:23344400-23347800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr20:23344400-23349200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr20:23344400-23350200	Weak transcription	Fetal Kidney	kidney
22	chr20:23344600-23346000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr20:23344600-23346000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr20:23344600-23346000	Weak transcription	Brain Anterior Caudate	brain
25	chr20:23344600-23346400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr20:23344600-23346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:23344600-23347000	Enhancers	Fetal Heart	heart
28	chr20:23344600-23354200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:23344800-23346600	Weak transcription	Stomach Mucosa	stomach
30	chr20:23344800-23346600	Strong transcription	NHEK	skin
31	chr20:23344800-23347800	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr20:23344800-23347800	Strong transcription	A549	lung
33	chr20:23344800-23348800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr20:23344800-23362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr20:23345000-23346000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:23345000-23346000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:23345000-23346000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr20:23345000-23346000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:23345000-23346000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:23345000-23346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr20:23345000-23346000	Strong transcription	Gastric	stomach
42	chr20:23345000-23346000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr20:23345000-23346200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:23345000-23346200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:23345000-23346200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:23345000-23346200	Strong transcription	Colonic Mucosa	Colon
47	chr20:23345000-23346200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr20:23345000-23346200	Strong transcription	Fetal Lung	lung
49	chr20:23345000-23346200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr20:23345000-23346200	Strong transcription	HMEC	breast

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