Variant report

Variant	rs2005040
Chromosome Location	chr8:131301457-131301458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10091313	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774947	0.81[ASN][1000 genomes]
rs17282526	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2554373	0.89[ASN][1000 genomes]
rs2670884	0.89[ASN][1000 genomes]
rs4733572	0.80[ASN][1000 genomes]
rs4733780	0.81[ASN][1000 genomes]
rs6470802	0.80[ASN][1000 genomes]
rs6988261	0.80[ASN][1000 genomes]
rs6996422	0.82[ASN][1000 genomes]
rs7014800	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7834461	0.84[EUR][1000 genomes]
rs966185	0.82[ASN][1000 genomes]

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:104 , 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	chr8:131290200-131302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131290200-131305400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131290200-131305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:131291800-131302400	Weak transcription	Left Ventricle	heart
8	chr8:131291800-131305400	Weak transcription	Lung	lung
9	chr8:131292600-131301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131292600-131303000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:131292800-131302000	Weak transcription	NH-A	brain
12	chr8:131292800-131304800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131295200-131302600	Weak transcription	NHDF-Ad	bronchial
14	chr8:131297000-131302200	Weak transcription	Psoas Muscle	Psoas
15	chr8:131297200-131302200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:131297200-131302400	Weak transcription	Right Atrium	heart
17	chr8:131297200-131302800	Weak transcription	Right Ventricle	heart
18	chr8:131297200-131303600	Weak transcription	Fetal Brain Male	brain
19	chr8:131297200-131304600	Weak transcription	Spleen	Spleen
20	chr8:131297200-131308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:131297400-131301600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:131297400-131302000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:131297400-131302200	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:131297400-131302600	Weak transcription	Aorta	Aorta
25	chr8:131297400-131303200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:131297400-131304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:131297400-131304400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:131297400-131304600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131297400-131305200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:131297400-131305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:131297400-131305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:131297400-131305800	Weak transcription	Small Intestine	intestine
33	chr8:131297400-131306600	Weak transcription	Fetal Kidney	kidney
34	chr8:131297600-131304800	Weak transcription	Primary B cells from cord blood	blood
35	chr8:131297600-131311400	Weak transcription	Fetal Lung	lung
36	chr8:131297800-131302200	Weak transcription	HSMMtube	muscle
37	chr8:131298000-131302600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:131298200-131305800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:131298600-131305400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:131299000-131304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:131299200-131305200	Weak transcription	Thymus	Thymus
42	chr8:131299400-131303200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:131299400-131305200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:131299400-131305200	Weak transcription	Fetal Thymus	thymus
45	chr8:131299400-131305400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:131299600-131302400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:131299800-131305400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:131299800-131305400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:131299800-131305400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:131300000-131301800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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