Variant report

Variant	rs10098691
Chromosome Location	chr8:62590717-62590718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62590444..62593508-chr8:62615340..62619147,4	K562	blood:
2	chr8:62581860..62583969-chr8:62589907..62591596,2	K562	blood:
3	chr8:62587795..62591350-chr8:62600023..62603846,3	K562	blood:

Variant related genes	Relation type
ENSG00000198363	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090651	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10099866	0.94[EUR][1000 genomes]
rs10111006	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986004	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11992990	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13255699	0.91[EUR][1000 genomes]
rs16927652	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16927767	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17205360	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17793991	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2350917	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2350925	0.93[EUR][1000 genomes]
rs2882536	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35337652	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35550451	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35683980	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4354302	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4446731	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4515541	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4633055	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6471968	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6549	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67189750	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984286	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6985520	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6990099	0.94[EUR][1000 genomes]
rs7009611	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015043	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7813834	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7830237	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840731	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7842421	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
3	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
5	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
6	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
8	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
9	chr8:62553200-62603800	Weak transcription	Gastric	stomach
10	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:62556800-62594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
15	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:62559600-62594600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:62561000-62598000	Weak transcription	Placenta	Placenta
18	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:62563400-62594800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
21	chr8:62566200-62595200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:62566200-62602200	Weak transcription	Ovary	ovary
23	chr8:62568400-62596400	Weak transcription	Fetal Kidney	kidney
24	chr8:62571800-62600600	Weak transcription	Right Ventricle	heart
25	chr8:62574200-62592600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:62575800-62602200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:62576200-62600000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:62576400-62597200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:62576600-62598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:62576600-62600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:62577600-62597600	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:62579000-62595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:62579400-62600600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:62581600-62595000	Weak transcription	K562	blood
36	chr8:62583600-62599800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:62584000-62602400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:62584400-62602400	Weak transcription	Fetal Brain Female	brain
39	chr8:62584600-62600000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:62585000-62592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:62585200-62598000	Strong transcription	NH-A	brain
42	chr8:62585200-62601400	Weak transcription	Brain Germinal Matrix	brain
43	chr8:62585600-62597600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:62586000-62594600	Weak transcription	HUVEC	blood vessel
45	chr8:62586000-62595200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:62586000-62597600	Weak transcription	Left Ventricle	heart
47	chr8:62586000-62597600	Weak transcription	Right Atrium	heart
48	chr8:62586000-62602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:62586000-62603800	Weak transcription	Esophagus	oesophagus
50	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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