Variant report

Variant	rs2912191
Chromosome Location	chr8:131300036-131300037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2670873	0.85[JPT][hapmap]
rs2791344	0.81[JPT][hapmap]
rs28587625	0.84[EUR][1000 genomes]
rs35091752	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6995074	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs9297805	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:131289600-131300200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131289600-131300200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:131291800-131300200	Weak transcription	Placenta	Placenta
10	chr8:131291800-131302400	Weak transcription	Left Ventricle	heart
11	chr8:131291800-131305400	Weak transcription	Lung	lung
12	chr8:131292600-131301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:131292600-131303000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:131292800-131300200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:131292800-131302000	Weak transcription	NH-A	brain
16	chr8:131292800-131304800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:131293600-131300600	Weak transcription	A549	lung
18	chr8:131295200-131300600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:131295200-131302600	Weak transcription	NHDF-Ad	bronchial
20	chr8:131296000-131300200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:131296000-131300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131297000-131301000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:131297000-131302200	Weak transcription	Psoas Muscle	Psoas
24	chr8:131297200-131300200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:131297200-131300200	Weak transcription	Fetal Heart	heart
26	chr8:131297200-131302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:131297200-131302400	Weak transcription	Right Atrium	heart
28	chr8:131297200-131302800	Weak transcription	Right Ventricle	heart
29	chr8:131297200-131303600	Weak transcription	Fetal Brain Male	brain
30	chr8:131297200-131304600	Weak transcription	Spleen	Spleen
31	chr8:131297200-131308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:131297400-131300200	Weak transcription	Fetal Stomach	stomach
33	chr8:131297400-131300200	Weak transcription	Osteobl	bone
34	chr8:131297400-131301600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:131297400-131302000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:131297400-131302200	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:131297400-131302600	Weak transcription	Aorta	Aorta
38	chr8:131297400-131303200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:131297400-131304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:131297400-131304400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:131297400-131304600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:131297400-131305200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:131297400-131305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:131297400-131305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:131297400-131305800	Weak transcription	Small Intestine	intestine
46	chr8:131297400-131306600	Weak transcription	Fetal Kidney	kidney
47	chr8:131297600-131300200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:131297600-131304800	Weak transcription	Primary B cells from cord blood	blood
49	chr8:131297600-131311400	Weak transcription	Fetal Lung	lung
50	chr8:131297800-131302200	Weak transcription	HSMMtube	muscle

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