Variant report

Variant	rs2450558
Chromosome Location	chr8:95410507-95410508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10102233	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs10102496	0.85[EUR][1000 genomes]
rs10112606	0.85[EUR][1000 genomes]
rs10216902	0.85[CEU][hapmap]
rs1023766	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10504936	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs12545262	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs12679347	0.85[EUR][1000 genomes]
rs12680029	0.84[EUR][1000 genomes]
rs12680213	0.85[EUR][1000 genomes]
rs13280849	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs13281619	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1379246	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1561648	0.86[CEU][hapmap]
rs1580498	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16916788	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs16916796	0.84[EUR][1000 genomes]
rs16916802	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1813167	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1866845	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1872889	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2046665	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2046666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099788	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2246066	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291439	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2445699	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2445721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2450554	0.81[EUR][1000 genomes]
rs2450572	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450578	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450580	0.89[CEU][hapmap]
rs2470718	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470728	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470731	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470732	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2470735	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470746	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515098	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515099	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515100	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515154	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515155	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515156	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515157	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515161	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515165	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28641679	0.86[EUR][1000 genomes]
rs2919654	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919662	0.86[CEU][hapmap]
rs2919663	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919665	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919666	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921385	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921387	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921388	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930958	0.89[CEU][hapmap]
rs2930959	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930962	0.89[CEU][hapmap]
rs2930967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930968	0.86[CEU][hapmap]
rs2930969	1.00[CHB][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2931633	0.86[EUR][1000 genomes]
rs3019146	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3019148	0.85[EUR][1000 genomes]
rs3019154	0.89[CEU][hapmap]
rs3019279	0.89[CEU][hapmap]
rs3098703	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098712	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098718	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098725	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3099397	0.87[EUR][1000 genomes]
rs3099398	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3099401	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099407	1.00[CHB][hapmap]
rs3099412	1.00[CHB][hapmap]
rs3102841	1.00[CHB][hapmap]
rs3102853	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3133648	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133651	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133654	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133656	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133657	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133658	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs35889192	0.82[EUR][1000 genomes]
rs4735292	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4735294	0.85[CEU][hapmap]
rs56285115	0.84[EUR][1000 genomes]
rs6980687	0.85[CEU][hapmap]
rs6991077	0.84[EUR][1000 genomes]
rs71504369	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs716770	0.85[EUR][1000 genomes]
rs935052	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs957446	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
6	chr8:95382400-95414800	Weak transcription	Gastric	stomach
7	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:95386000-95413400	Weak transcription	NHLF	lung
9	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
10	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
11	chr8:95386400-95412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95387800-95410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
16	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95389800-95413000	Weak transcription	Placenta	Placenta
18	chr8:95391800-95410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95391800-95412600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
21	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
24	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:95392400-95410800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:95392400-95412200	Weak transcription	Brain Substantia Nigra	brain
28	chr8:95392400-95413200	Weak transcription	Ovary	ovary
29	chr8:95392400-95413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:95392600-95413200	Weak transcription	Fetal Lung	lung
33	chr8:95392600-95413400	Weak transcription	Fetal Intestine Large	intestine
34	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:95392600-95417400	Weak transcription	Osteobl	bone
37	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
38	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:95393200-95447000	Weak transcription	K562	blood
41	chr8:95397800-95413000	Weak transcription	Liver	Liver
42	chr8:95398000-95411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:95398400-95410600	Weak transcription	NHEK	skin
44	chr8:95400200-95411800	Strong transcription	GM12878-XiMat	blood
45	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
46	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:95402000-95410600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:95402600-95412800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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