Variant report

Variant	rs10109847
Chromosome Location	chr8:100184677-100184678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100180284..100182081-chr8:100183993..100185529,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10107358	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808362	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955193	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253769	0.95[CHB][hapmap]
rs13275250	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4442113	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829939	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv933589	chr8:100127908-100232809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
2	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:100122000-100201200	Weak transcription	Gastric	stomach
4	chr8:100131800-100197600	Weak transcription	Lung	lung
5	chr8:100151000-100188200	Weak transcription	Aorta	Aorta
6	chr8:100158000-100189400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:100161400-100188600	Weak transcription	Spleen	Spleen
8	chr8:100161400-100202000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:100163000-100197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:100163000-100198800	Weak transcription	HSMM	muscle
11	chr8:100163200-100197800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:100163400-100186400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:100163400-100190400	Weak transcription	Fetal Brain Male	brain
14	chr8:100163400-100191000	Weak transcription	Ovary	ovary
15	chr8:100163400-100198200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:100163400-100214400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:100163400-100224800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:100163400-100225000	Weak transcription	Fetal Thymus	thymus
19	chr8:100163400-100226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:100163400-100226800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:100163400-100230600	Weak transcription	Right Ventricle	heart
22	chr8:100163600-100214200	Weak transcription	Dnd41	blood
23	chr8:100163600-100214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:100163800-100206600	Weak transcription	GM12878-XiMat	blood
25	chr8:100164000-100187000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:100164000-100187800	Weak transcription	Left Ventricle	heart
27	chr8:100164000-100205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:100164000-100225600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:100164000-100229600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:100164200-100245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:100164800-100214400	Weak transcription	Liver	Liver
32	chr8:100165200-100206400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:100166800-100194400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:100169800-100192600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:100170200-100192400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:100171200-100205000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:100171400-100214400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:100171800-100187600	Weak transcription	Primary T cells from cord blood	blood
39	chr8:100173400-100191200	Weak transcription	NHDF-Ad	bronchial
40	chr8:100173400-100192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:100173400-100198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:100173400-100202400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:100174800-100207800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:100175400-100222800	Weak transcription	Fetal Stomach	stomach
45	chr8:100176200-100222600	Weak transcription	Fetal Intestine Large	intestine
46	chr8:100176400-100190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:100178200-100194200	Weak transcription	Brain Anterior Caudate	brain
48	chr8:100178800-100186000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:100178800-100245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:100178800-100245000	Weak transcription	Fetal Intestine Small	intestine

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