Variant report

Variant	rs7005991
Chromosome Location	chr8:91033589-91033590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090863	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10096580	0.84[EUR][1000 genomes]
rs10504885	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12541412	1.00[CEU][hapmap]
rs12541460	1.00[CEU][hapmap]
rs13312969	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13312970	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16901369	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16901430	1.00[CEU][hapmap]
rs16901433	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16902897	1.00[CEU][hapmap]
rs1805825	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1805835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1805861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805872	1.00[CEU][hapmap]
rs1805875	1.00[CEU][hapmap]
rs1805884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805905	1.00[CEU][hapmap]
rs2023554	1.00[CEU][hapmap]
rs2280778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs28371401	0.84[EUR][1000 genomes]
rs28486026	0.84[EUR][1000 genomes]
rs3026296	1.00[CEU][hapmap]
rs3736640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs57266874	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58089858	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58321776	0.84[EUR][1000 genomes]
rs58573572	0.84[EUR][1000 genomes]
rs58922279	0.84[EUR][1000 genomes]
rs60259111	0.84[EUR][1000 genomes]
rs60938698	0.84[EUR][1000 genomes]
rs66854331	0.84[EUR][1000 genomes]
rs6985934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6996173	0.84[EUR][1000 genomes]
rs7006318	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73304457	0.84[EUR][1000 genomes]
rs73304468	0.84[EUR][1000 genomes]
rs73304476	0.84[EUR][1000 genomes]
rs73304479	0.84[EUR][1000 genomes]
rs73304487	0.84[EUR][1000 genomes]
rs73694304	0.85[AFR][1000 genomes]
rs9297757	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9656966	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs989385	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
6	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
7	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:91018600-91065400	Weak transcription	HMEC	breast
9	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
10	chr8:91019600-91034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:91019800-91048600	Weak transcription	K562	blood
12	chr8:91021600-91034400	Weak transcription	Aorta	Aorta
13	chr8:91022800-91034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:91022800-91034400	Weak transcription	Gastric	stomach
15	chr8:91022800-91042000	Weak transcription	Pancreas	Pancrea
16	chr8:91027600-91034200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:91027600-91035400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:91027600-91066800	Weak transcription	NHEK	skin
19	chr8:91027800-91034200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:91027800-91034800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:91027800-91036200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:91028400-91035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:91029000-91036200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:91029400-91035600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:91029400-91036000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
27	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
28	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:91031000-91035400	Strong transcription	Fetal Thymus	thymus
30	chr8:91031000-91035800	Strong transcription	Adipose Nuclei	Adipose
31	chr8:91031000-91035800	Strong transcription	HSMM	muscle
32	chr8:91031000-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:91031200-91033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:91031200-91033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:91031200-91033800	Strong transcription	NH-A	brain
36	chr8:91031200-91034000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr8:91031200-91034200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:91031200-91034200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:91031200-91034800	Strong transcription	Placenta	Placenta
40	chr8:91031200-91034800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:91031200-91034800	Strong transcription	HSMMtube	muscle
42	chr8:91031200-91035000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:91031200-91035400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:91031200-91035400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:91031200-91035400	Strong transcription	Left Ventricle	heart
46	chr8:91031200-91035600	Strong transcription	Primary T cells from cord blood	blood
47	chr8:91031200-91035600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:91031200-91035600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr8:91031200-91035600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:91031200-91035800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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