Variant report

Variant	rs2515099
Chromosome Location	chr8:95379658-95379659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10109060	0.83[EUR][1000 genomes]
rs1379246	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1580498	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1598713	0.84[EUR][1000 genomes]
rs1813167	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2046665	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2046666	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246066	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445699	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445721	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2445728	0.87[EUR][1000 genomes]
rs2450554	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2450556	0.87[EUR][1000 genomes]
rs2450558	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450572	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450578	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2470718	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470728	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470731	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470732	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470735	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2470739	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470740	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470742	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470746	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515098	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515100	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515153	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515154	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515155	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515156	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515157	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2515161	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515165	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919654	0.82[ASN][1000 genomes]
rs2919663	0.82[ASN][1000 genomes]
rs2919665	0.82[ASN][1000 genomes]
rs2919666	0.82[ASN][1000 genomes]
rs2921385	0.80[AMR][1000 genomes]
rs2921387	0.80[AMR][1000 genomes]
rs2921388	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2930959	0.82[ASN][1000 genomes]
rs2930967	0.82[ASN][1000 genomes]
rs2930969	0.80[AMR][1000 genomes]
rs3098703	0.81[ASN][1000 genomes]
rs3099398	0.81[ASN][1000 genomes]
rs3099401	0.80[ASN][1000 genomes]
rs4735288	0.83[EUR][1000 genomes]
rs67639046	0.84[EUR][1000 genomes]
rs6997115	0.83[EUR][1000 genomes]
rs71504369	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7831073	0.82[EUR][1000 genomes]
rs935052	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95365800-95385000	Weak transcription	NHEK	skin
3	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95369400-95383600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:95370000-95380600	Weak transcription	A549	lung
6	chr8:95370000-95382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:95370000-95385000	Weak transcription	NHLF	lung
8	chr8:95370000-95385200	Weak transcription	HSMM	muscle
9	chr8:95370000-95385200	Weak transcription	HUVEC	blood vessel
10	chr8:95370200-95384800	Weak transcription	HMEC	breast
11	chr8:95370600-95381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:95370600-95385400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95370800-95383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95372400-95384400	Weak transcription	NHDF-Ad	bronchial
16	chr8:95372400-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:95372800-95384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:95372800-95384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:95372800-95385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:95372800-95391200	Weak transcription	HepG2	liver
21	chr8:95373800-95381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
23	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
24	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:95374600-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
29	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
31	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95376600-95385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
37	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:95378800-95379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:95378800-95379800	Strong transcription	NH-A	brain
44	chr8:95378800-95380200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:95378800-95380200	Strong transcription	GM12878-XiMat	blood
46	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
47	chr8:95379000-95380200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:95379000-95380200	Enhancers	Brain Germinal Matrix	brain
49	chr8:95379000-95382800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:95379000-95385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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