Variant report

Variant	rs8040120
Chromosome Location	chr15:74729848-74729849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1030888	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10459601	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap]
rs10459648	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs11072492	0.92[GIH][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap]
rs11072494	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs11072495	0.92[GIH][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap]
rs11072496	0.86[GIH][hapmap]
rs1128628	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11629749	0.83[GIH][hapmap]
rs11629946	0.87[GIH][hapmap]
rs11854461	0.92[GIH][hapmap]
rs1866113	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs1866114	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[YRI][hapmap]
rs1992145	0.80[JPT][hapmap]
rs2068982	0.89[GIH][hapmap];0.82[MEX][hapmap]
rs2289187	0.92[GIH][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap]
rs2415242	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs2899826	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.84[YRI][hapmap]
rs3985310	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs4073149	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap]
rs4886601	0.92[GIH][hapmap];0.81[LWK][hapmap];0.81[MEX][hapmap];0.80[YRI][hapmap]
rs4887150	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs4887159	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs4887163	0.92[GIH][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap]
rs6495104	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap]
rs6495112	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap]
rs6495116	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs6495117	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs6495118	0.92[GIH][hapmap]
rs7161990	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.92[YRI][hapmap]
rs7163775	0.92[GIH][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap]
rs7166701	0.92[GIH][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap]
rs7171838	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs7175512	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7178568	0.87[GIH][hapmap]
rs7497036	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap]
rs750608	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.85[YRI][hapmap]
rs8023786	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8028430	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs8029116	0.92[GIH][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap]
rs8029215	0.92[GIH][hapmap];0.82[MEX][hapmap]
rs9635320	0.92[GIH][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv904371	chr15:74719249-74731330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726200-74736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74726400-74737200	Weak transcription	Hela-S3	cervix
3	chr15:74726800-74730600	Weak transcription	NHEK	skin
4	chr15:74726800-74730800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:74726800-74730800	Weak transcription	HMEC	breast
6	chr15:74726800-74736800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:74726800-74737400	Weak transcription	Esophagus	oesophagus
8	chr15:74726800-74738600	Weak transcription	Fetal Lung	lung
9	chr15:74726800-74740200	Weak transcription	A549	lung
10	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:74727000-74731200	Enhancers	K562	blood
12	chr15:74727000-74734400	Weak transcription	Pancreas	Pancrea
13	chr15:74727000-74736600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:74727000-74736600	Weak transcription	Right Atrium	heart
15	chr15:74727000-74736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:74727000-74736800	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:74727000-74737400	Weak transcription	Lung	lung
18	chr15:74727000-74737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:74727200-74730600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:74727200-74730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:74727200-74730800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:74727200-74731200	Weak transcription	HSMMtube	muscle
23	chr15:74727200-74735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:74727200-74735200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:74727200-74735400	Weak transcription	Brain Anterior Caudate	brain
26	chr15:74727200-74735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:74727200-74736600	Weak transcription	Primary T cells from cord blood	blood
28	chr15:74727200-74736600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:74727200-74736800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:74727200-74736800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:74727200-74737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:74727200-74737200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:74727200-74737200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:74727200-74737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:74727200-74740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:74727200-74747200	Weak transcription	NHDF-Ad	bronchial
37	chr15:74727400-74730800	Weak transcription	HSMM	muscle
38	chr15:74727400-74734800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:74727400-74734800	Weak transcription	Osteobl	bone
40	chr15:74727400-74735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:74727400-74736800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:74727400-74737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:74727600-74730600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:74727600-74730600	Weak transcription	HepG2	liver
45	chr15:74727600-74730800	Weak transcription	Dnd41	blood
46	chr15:74727600-74733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:74727600-74735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:74727600-74737000	Weak transcription	Brain Germinal Matrix	brain
49	chr15:74727600-74737200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:74727600-74739400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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