Variant report

Variant	rs2289937
Chromosome Location	chr8:117873811-117873812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117872440..117874980-chr8:117878217..117880998,3	MCF-7	breast:
2	chr8:117857343..117862802-chr8:117868488..117876053,7	K562	blood:
3	chr8:117867146..117869223-chr8:117871720..117874230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10283144	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12548895	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921771	1.00[EUR][1000 genomes]
rs2921782	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921783	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921787	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921788	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921791	0.82[MEX][hapmap]
rs3020111	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020123	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.99[ASN][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020128	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020133	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020135	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020138	1.00[EUR][1000 genomes]
rs3020139	1.00[EUR][1000 genomes]
rs3020181	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57202151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs6996153	0.82[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap]
rs7820245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7831930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:117854800-117875000	Strong transcription	Dnd41	blood
4	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:117856800-117877600	Strong transcription	HSMM	muscle
15	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
16	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
17	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
18	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:117857600-117875200	Strong transcription	A549	lung
22	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:117857800-117875600	Strong transcription	HMEC	breast
24	chr8:117858000-117875200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
27	chr8:117858400-117875000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:117858600-117874200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:117858600-117875400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:117858600-117875600	Strong transcription	NHDF-Ad	bronchial
32	chr8:117858600-117875600	Strong transcription	NHEK	skin
33	chr8:117858800-117874000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:117858800-117874400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr8:117859000-117875400	Strong transcription	Primary T cells from cord blood	blood
36	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
37	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
38	chr8:117862000-117876200	Strong transcription	HSMMtube	muscle
39	chr8:117862200-117875800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:117862200-117877600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:117862400-117875800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:117862600-117874000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:117862600-117874600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr8:117863400-117875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:117863600-117874600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:117864000-117875000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:117864400-117875600	Weak transcription	Small Intestine	intestine
48	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:117864400-117885800	Weak transcription	Gastric	stomach
50	chr8:117864600-117874200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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