Variant report

Variant	rs7010382
Chromosome Location	chr8:119108205-119108206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119105713..119109279-chr8:119110657..119113887,4	K562	blood:
2	chr8:119105713..119109059-chr8:119110657..119113887,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10755915	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808492	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808494	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955855	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955856	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12548404	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675013	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13270513	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs1811528	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757991	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876400	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876791	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469721	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991511	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993268	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7008536	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011384	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014053	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818011	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835605	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835956	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7837824	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs897828	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs897830	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 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	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:119094400-119110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:119099400-119109800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:119100200-119108400	Genic enhancers	Osteobl	bone
8	chr8:119100400-119110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:119100600-119109800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:119101200-119110000	Weak transcription	Fetal Brain Female	brain
11	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:119102400-119109800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:119102400-119109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:119102400-119110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:119102400-119111200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
20	chr8:119102600-119109000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:119102600-119109800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:119102600-119109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:119102600-119109800	Weak transcription	Pancreas	Pancrea
24	chr8:119102600-119109800	Weak transcription	Hela-S3	cervix
25	chr8:119102600-119110200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:119102600-119110200	Weak transcription	Colonic Mucosa	Colon
27	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
28	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:119102800-119109200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:119102800-119109800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:119102800-119109800	Weak transcription	Esophagus	oesophagus
33	chr8:119102800-119109800	Weak transcription	Right Ventricle	heart
34	chr8:119102800-119110200	Weak transcription	Gastric	stomach
35	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
36	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:119103200-119109800	Weak transcription	Fetal Thymus	thymus
40	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:119103400-119109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:119103400-119109800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:119103400-119109800	Weak transcription	Lung	lung
45	chr8:119103400-119109800	Weak transcription	Thymus	Thymus
46	chr8:119103400-119110000	Weak transcription	Spleen	Spleen
47	chr8:119103400-119111200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:119103400-119111200	Weak transcription	GM12878-XiMat	blood
49	chr8:119103600-119108600	Weak transcription	Fetal Intestine Small	intestine
50	chr8:119103600-119109800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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