Variant report

Variant	rs2927868
Chromosome Location	chr8:114447079-114447080
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114441726..114443315-chr8:114445051..114447307,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10089887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12545155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12678354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1382467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513515	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs1513523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1513524	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551957	1.00[ASN][1000 genomes]
rs28696718	1.00[ASN][1000 genomes]
rs2927865	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927869	0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927870	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927872	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927873	0.89[ASN][1000 genomes]
rs2927874	0.89[ASN][1000 genomes]
rs2942835	0.89[ASN][1000 genomes]
rs2942848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942852	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942853	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2954880	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2954881	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4311682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs4354335	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs4531082	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532621	0.84[EUR][1000 genomes]
rs4593574	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6469455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6469457	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002354	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7003686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7839252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839352	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643079	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9649937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs966371	1.00[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	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr8:114445200-114449200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr8:114446400-114447200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:114446400-114447400	Enhancers	Gastric	stomach
9	chr8:114446400-114450600	Active TSS	Brain Anterior Caudate	brain
10	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain
11	chr8:114446600-114447200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
12	chr8:114446600-114447200	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr8:114446600-114447400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr8:114446600-114447600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr8:114446600-114448000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:114446600-114448000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:114446600-114448000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:114446600-114450600	Active TSS	Brain Germinal Matrix	brain
19	chr8:114446800-114447400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr8:114446800-114447400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:114446800-114447600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:114446800-114447600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:114446800-114447600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
24	chr8:114446800-114447600	Flanking Bivalent TSS/Enh	NH-A	brain
25	chr8:114446800-114447800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr8:114446800-114448000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:114446800-114448000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:114446800-114448000	Active TSS	Fetal Brain Male	brain
29	chr8:114446800-114448000	Active TSS	Fetal Brain Female	brain
30	chr8:114446800-114448200	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr8:114446800-114448400	Bivalent/Poised TSS	Fetal Lung	lung
32	chr8:114446800-114448400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr8:114446800-114449600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:114447000-114447200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:114447000-114447200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:114447000-114447200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr8:114447000-114447200	Bivalent/Poised TSS	Left Ventricle	heart
38	chr8:114447000-114447200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr8:114447000-114447200	Bivalent/Poised TSS	Right Ventricle	heart
40	chr8:114447000-114447200	Bivalent/Poised TSS	HMEC	breast
41	chr8:114447000-114447400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:114447000-114447400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:114447000-114447400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr8:114447000-114447400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:114447000-114447400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:114447000-114447400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr8:114447000-114447400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:114447000-114447400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr8:114447000-114447400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:114447000-114447400	Active TSS	Aorta	Aorta

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