Variant report

Variant	rs6985520
Chromosome Location	chr8:62603795-62603796
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	POLR2A	chr8:62603788-62603951	ProgFib	skin:	n/a	n/a
2	FOXA2	chr8:62603421-62603869	A549	lung:	n/a	chr8:62603706-62603718
3	POLR2A	chr8:62603604-62604722	K562	blood:	n/a	n/a
4	POLR2A	chr8:62603465-62604556	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:62603623-62604878	U87	brain:	n/a	n/a
6	POLR2A	chr8:62603680-62604636	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:62603609-62612048	A549	lung:	n/a	n/a
8	POLR2A	chr8:62603786-62609667	K562	blood:	n/a	n/a
9	POLR2A	chr8:62603707-62604032	Hela-S3	cervix:	n/a	n/a
10	EP300	chr8:62603705-62604000	K562	blood:	n/a	chr8:62603705-62603715
11	POLR2A	chr8:62603644-62604224	K562	blood:	n/a	n/a
12	FOXA2	chr8:62603607-62603828	HepG2	liver:	n/a	chr8:62603706-62603718
13	POLR2A	chr8:62603623-62605196	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62595760..62598756-chr8:62600966..62603873,2	MCF-7	breast:
3	chr8:62584507..62586097-chr8:62602896..62604975,2	K562	blood:
4	chr8:62600772..62604882-chr8:62678013..62681248,3	MCF-7	breast:
5	chr8:62602720..62604723-chr8:62672948..62674768,2	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098691	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10099866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10111006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986004	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11992990	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13255699	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16927652	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16927767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17205360	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17793991	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2350917	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882536	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35337652	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35550451	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35683980	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4272369	0.85[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs4354302	0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs4446731	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515541	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4633055	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6549	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs67189750	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6984286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990099	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015043	0.88[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813834	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7830237	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840731	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
3	chr8:62553200-62603800	Weak transcription	Gastric	stomach
4	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:62586000-62603800	Weak transcription	Esophagus	oesophagus
6	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:62586000-62606400	Weak transcription	Lung	lung
8	chr8:62588800-62605000	Weak transcription	Spleen	Spleen
9	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:62598600-62603800	Weak transcription	Small Intestine	intestine
14	chr8:62599200-62604200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:62599800-62608800	Enhancers	Osteobl	bone
16	chr8:62600200-62605000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:62600200-62605600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:62600200-62607600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:62600400-62604200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:62600800-62605200	Weak transcription	HUVEC	blood vessel
21	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
22	chr8:62601200-62606400	Weak transcription	Left Ventricle	heart
23	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
24	chr8:62602200-62604000	Weak transcription	Right Ventricle	heart
25	chr8:62602200-62605200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:62602200-62608800	Enhancers	NHDF-Ad	bronchial
27	chr8:62602400-62604400	Enhancers	HepG2	liver
28	chr8:62602400-62605200	Enhancers	Stomach Mucosa	stomach
29	chr8:62602600-62603800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:62602600-62604400	Enhancers	Hela-S3	cervix
31	chr8:62602600-62607200	Enhancers	Adipose Nuclei	Adipose
32	chr8:62602800-62604000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:62602800-62604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:62602800-62605000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:62602800-62605000	Weak transcription	HMEC	breast
36	chr8:62602800-62605200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:62602800-62605200	Weak transcription	NHLF	lung
38	chr8:62602800-62606400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:62602800-62606400	Weak transcription	Ovary	ovary
40	chr8:62602800-62607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
42	chr8:62603000-62603800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:62603000-62603800	Weak transcription	Psoas Muscle	Psoas
44	chr8:62603000-62604000	Weak transcription	Brain Angular Gyrus	brain
45	chr8:62603000-62604000	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:62603000-62604200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:62603000-62604200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:62603000-62604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:62603000-62604600	Enhancers	Fetal Heart	heart
50	chr8:62603000-62605000	Weak transcription	Rectal Mucosa Donor 31	rectum

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