Variant report

Variant	rs2450578
Chromosome Location	chr8:95382822-95382823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10109060	0.85[EUR][1000 genomes]
rs1379246	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1580498	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1598713	0.86[EUR][1000 genomes]
rs1813167	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2046665	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2046666	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246066	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445699	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445721	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445728	0.89[EUR][1000 genomes]
rs2450554	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2450556	0.89[EUR][1000 genomes]
rs2450558	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450572	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470718	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470728	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470731	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470732	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470735	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470739	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470740	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470742	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470746	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515098	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515099	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515153	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515154	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515155	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515156	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515157	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515161	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515165	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919654	0.86[ASN][1000 genomes]
rs2919663	0.86[ASN][1000 genomes]
rs2919665	0.86[ASN][1000 genomes]
rs2919666	0.86[ASN][1000 genomes]
rs2921385	0.82[AMR][1000 genomes]
rs2921387	0.82[AMR][1000 genomes]
rs2921388	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2930959	0.86[ASN][1000 genomes]
rs2930967	0.86[ASN][1000 genomes]
rs2930969	0.82[AMR][1000 genomes]
rs3098703	0.84[ASN][1000 genomes]
rs3099397	0.81[AMR][1000 genomes]
rs3099398	0.84[ASN][1000 genomes]
rs3099401	0.83[ASN][1000 genomes]
rs4735288	0.85[EUR][1000 genomes]
rs67639046	0.86[EUR][1000 genomes]
rs6997115	0.85[EUR][1000 genomes]
rs71504369	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7824722	0.81[EUR][1000 genomes]
rs7831073	0.84[EUR][1000 genomes]
rs935052	0.82[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:72 , 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	chr8:95370000-95385000	Weak transcription	NHLF	lung
6	chr8:95370000-95385200	Weak transcription	HSMM	muscle
7	chr8:95370000-95385200	Weak transcription	HUVEC	blood vessel
8	chr8:95370200-95384800	Weak transcription	HMEC	breast
9	chr8:95370600-95385400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:95370800-95383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:95372400-95384400	Weak transcription	NHDF-Ad	bronchial
13	chr8:95372400-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:95372800-95384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:95372800-95384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:95372800-95385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:95372800-95391200	Weak transcription	HepG2	liver
18	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
19	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
20	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:95374600-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
25	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
27	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:95376600-95385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
33	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:95379000-95385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:95379200-95385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:95379400-95385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
45	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
46	chr8:95379600-95383200	Weak transcription	Dnd41	blood
47	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
48	chr8:95379800-95385200	Weak transcription	NH-A	brain
49	chr8:95379800-95385400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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