Variant report

Variant	rs11775077
Chromosome Location	chr8:62597687-62597688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62597616-62598161	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:62597478-62598388	U87	brain:	n/a	n/a
3	POLR2A	chr8:62594243-62598430	K562	blood:	n/a	n/a
4	YY1	chr8:62597564-62597721	K562	blood:	n/a	n/a
5	RCOR1	chr8:62597644-62598105	K562	blood:	n/a	n/a
6	POLR2A	chr8:62597484-62598266	U87	brain:	n/a	n/a
7	POLR2A	chr8:62597622-62598237	U87	brain:	n/a	n/a
8	POLR2A	chr8:62597622-62598230	U87	brain:	n/a	n/a
9	POLR2A	chr8:62597577-62597807	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:62597510-62598110	K562	blood:	n/a	n/a
11	POLR2A	chr8:62597477-62598110	K562	blood:	n/a	n/a
12	POLR2A	chr8:62594700-62601512	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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	chr8:62595876..62598514-chr8:62600212..62603017,3	K562	blood:
4	chr8:62595760..62598756-chr8:62600966..62603873,2	MCF-7	breast:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10957196	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11782345	0.95[CEU][hapmap]
rs11786863	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787089	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11990408	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11997478	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12679293	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16918887	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17546883	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3765162	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55720422	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61430496	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471964	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6471969	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7015761	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7016408	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72659015	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72659032	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72659034	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72659056	0.85[AFR][1000 genomes]
rs7812552	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7816208	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7822988	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7825861	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7834478	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836999	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7841144	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][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:108 , 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	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
11	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:62561000-62598000	Weak transcription	Placenta	Placenta
13	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
15	chr8:62566200-62602200	Weak transcription	Ovary	ovary
16	chr8:62571800-62600600	Weak transcription	Right Ventricle	heart
17	chr8:62575800-62602200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:62576200-62600000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:62576600-62598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:62576600-62600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:62579400-62600600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:62583600-62599800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:62584000-62602400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:62584400-62602400	Weak transcription	Fetal Brain Female	brain
26	chr8:62584600-62600000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:62585200-62598000	Strong transcription	NH-A	brain
28	chr8:62585200-62601400	Weak transcription	Brain Germinal Matrix	brain
29	chr8:62586000-62602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:62586000-62603800	Weak transcription	Esophagus	oesophagus
31	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:62586000-62606400	Weak transcription	Lung	lung
33	chr8:62586200-62602200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:62587000-62598000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:62587400-62600000	Weak transcription	Primary B cells from cord blood	blood
36	chr8:62588400-62600600	Weak transcription	Stomach Mucosa	stomach
37	chr8:62588800-62600400	Weak transcription	HSMMtube	muscle
38	chr8:62588800-62605000	Weak transcription	Spleen	Spleen
39	chr8:62589000-62601200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:62589800-62601200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:62591400-62597800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:62591600-62599800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:62591600-62602400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:62592000-62598800	Weak transcription	Primary T cells from cord blood	blood
46	chr8:62593400-62602200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:62594800-62598800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:62595200-62602200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:62595400-62597800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:62595400-62602400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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