Variant report

Variant	rs11995866
Chromosome Location	chr8:121058098-121058099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10095303	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10108373	1.00[YRI][hapmap]
rs10109558	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10110144	0.80[CEU][hapmap]
rs1051534	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10738134	1.00[YRI][hapmap]
rs10955946	0.82[AMR][1000 genomes]
rs10955947	0.82[AMR][1000 genomes]
rs10955951	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11787175	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11787250	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986202	0.82[AMR][1000 genomes]
rs12546625	1.00[YRI][hapmap]
rs12680859	1.00[YRI][hapmap]
rs13266382	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13272368	0.82[AMR][1000 genomes]
rs1356748	0.83[CHB][hapmap];0.81[AMR][1000 genomes]
rs2056304	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2139434	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34476793	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4633103	1.00[YRI][hapmap]
rs4871044	1.00[YRI][hapmap]
rs4871719	0.81[AMR][1000 genomes]
rs4871822	0.80[CEU][hapmap]
rs4871827	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58564644	0.82[AMR][1000 genomes]
rs60657932	0.82[AMR][1000 genomes]
rs6469889	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs6469890	0.82[CHB][hapmap]
rs6980708	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6997067	0.81[AMR][1000 genomes]
rs7817016	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7827219	1.00[YRI][hapmap]
rs7833689	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs9642847	0.81[AMR][1000 genomes]
rs9643139	0.83[CHB][hapmap]
rs9643140	0.81[AMR][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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
6	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
7	chr8:121048600-121061800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121048600-121061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:121049200-121062200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
13	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:121049800-121059000	Weak transcription	Fetal Stomach	stomach
15	chr8:121050200-121060200	Weak transcription	Fetal Kidney	kidney
16	chr8:121052800-121060000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:121053000-121059000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:121053400-121060400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:121053600-121064000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
22	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:121053800-121060000	Weak transcription	Ovary	ovary
25	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:121054000-121058200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:121054600-121061800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:121054600-121061800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:121055200-121060800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:121056000-121060200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:121056000-121060400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:121056600-121058200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:121056600-121058600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121056800-121058400	Strong transcription	Gastric	stomach
35	chr8:121056800-121059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:121057000-121060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:121057000-121060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:121057200-121058400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:121057200-121059200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:121057200-121060200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:121057400-121060200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:121057400-121061800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:121057600-121060000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:121057600-121060200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:121057600-121060200	Weak transcription	Osteobl	bone
46	chr8:121057600-121060400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:121057800-121059600	Strong transcription	Fetal Intestine Small	intestine
48	chr8:121057800-121060400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:121058000-121058200	Enhancers	Pancreas	Pancrea
50	chr8:121058000-121058400	Enhancers	Liver	Liver

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