Variant report

Variant	rs7015043
Chromosome Location	chr8:62599098-62599099
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	chr8:62599014-62599525	U87	brain:	n/a	n/a
2	POLR2A	chr8:62598738-62599203	K562	blood:	n/a	n/a
3	POLR2A	chr8:62594700-62601512	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62597352..62599123-chr8:62616045..62617988,2	K562	blood:
3	chr8:62595136..62597958-chr8:62598065..62599959,2	K562	blood:
4	chr8:62599050..62601390-chr8:62788513..62790714,2	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
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	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098691	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10099866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10111006	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986004	0.82[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11992990	0.82[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	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16927767	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17205360	0.82[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17793991	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2350917	0.82[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2350925	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28409877	0.80[AMR][1000 genomes]
rs2882536	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35337652	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35550451	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35683980	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4354302	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4377960	0.80[JPT][hapmap]
rs4446731	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4515541	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633055	0.88[ASW][hapmap];0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471968	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6549	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs67189750	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6984286	0.88[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985520	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]
rs6990099	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009611	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813834	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830237	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840731	0.88[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842421	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
3	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
4	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
6	chr8:62553200-62603800	Weak transcription	Gastric	stomach
7	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
10	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
13	chr8:62566200-62602200	Weak transcription	Ovary	ovary
14	chr8:62571800-62600600	Weak transcription	Right Ventricle	heart
15	chr8:62575800-62602200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:62576200-62600000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:62576600-62600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:62579400-62600600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:62583600-62599800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:62584000-62602400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:62584400-62602400	Weak transcription	Fetal Brain Female	brain
23	chr8:62584600-62600000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:62585200-62601400	Weak transcription	Brain Germinal Matrix	brain
25	chr8:62586000-62602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:62586000-62603800	Weak transcription	Esophagus	oesophagus
27	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:62586000-62606400	Weak transcription	Lung	lung
29	chr8:62586200-62602200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:62587400-62600000	Weak transcription	Primary B cells from cord blood	blood
31	chr8:62588400-62600600	Weak transcription	Stomach Mucosa	stomach
32	chr8:62588800-62600400	Weak transcription	HSMMtube	muscle
33	chr8:62588800-62605000	Weak transcription	Spleen	Spleen
34	chr8:62589000-62601200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:62589800-62601200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:62591600-62599800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:62591600-62602400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:62593400-62602200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:62595200-62602200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:62595400-62602400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:62595600-62601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:62595600-62602400	Weak transcription	Fetal Lung	lung
44	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:62596000-62600400	Enhancers	Fetal Heart	heart
46	chr8:62596200-62600000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:62596200-62600600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:62596200-62600600	Weak transcription	HepG2	liver
49	chr8:62596200-62602000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:62596200-62602400	Weak transcription	Rectal Mucosa Donor 29	rectum

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