Variant report

Variant	rs7000324
Chromosome Location	chr8:91035913-91035914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10435549	0.82[JPT][hapmap]
rs12675530	0.81[MEX][hapmap]
rs14448	0.82[JPT][hapmap]
rs16901941	0.80[MEX][hapmap]
rs16902428	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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805860	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2158423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2284133	0.82[JPT][hapmap]
rs57317967	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983345	0.82[JPT][hapmap]
rs7002335	0.82[JPT][hapmap]
rs7006767	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73308404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73694304	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829659	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
3	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
4	chr8:91018600-91065400	Weak transcription	HMEC	breast
5	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
6	chr8:91019800-91048600	Weak transcription	K562	blood
7	chr8:91022800-91042000	Weak transcription	Pancreas	Pancrea
8	chr8:91027600-91066800	Weak transcription	NHEK	skin
9	chr8:91027800-91036200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:91029000-91036200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:91029400-91036000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
13	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
14	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:91031000-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:91031200-91036000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr8:91031200-91036000	Strong transcription	Dnd41	blood
18	chr8:91031200-91036200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:91031200-91036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:91031200-91036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:91031200-91036200	Strong transcription	Liver	Liver
22	chr8:91031200-91036200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:91031200-91036200	Strong transcription	Fetal Intestine Large	intestine
24	chr8:91031200-91036200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:91031400-91036000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:91031400-91036000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:91032000-91036000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:91032000-91036200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:91032000-91042000	Weak transcription	Thymus	Thymus
30	chr8:91032000-91042200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:91032000-91049000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:91032000-91050800	Weak transcription	Esophagus	oesophagus
33	chr8:91032000-91050800	Weak transcription	NHDF-Ad	bronchial
34	chr8:91032000-91051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
37	chr8:91032000-91064800	Weak transcription	NHLF	lung
38	chr8:91032200-91042000	Weak transcription	Lung	lung
39	chr8:91032200-91051400	Weak transcription	Brain Substantia Nigra	brain
40	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:91032400-91042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:91032400-91042200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:91032400-91049200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:91032400-91049200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:91032400-91051200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:91032400-91054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:91032600-91041400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:91032600-91042200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:91032600-91049200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:91032800-91036800	Weak transcription	Brain Germinal Matrix	brain

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