Variant report

Variant	rs12563826
Chromosome Location	chr1:94782119-94782120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1054626	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165103	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165114	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022859	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024941	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12026367	0.83[AFR][1000 genomes]
rs12027548	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031606	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12036085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038745	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039546	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042509	0.90[CHB][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12046536	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12093742	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12562103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1360365	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1576592	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1611832	0.92[EUR][1000 genomes]
rs1622451	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623248	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623314	0.90[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1629275	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687950	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111408	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17111426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765636	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765640	0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1929131	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1999270	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1999271	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2130899	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391472	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35275815	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789690	0.82[EUR][1000 genomes]
rs4543802	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847201	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847296	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55961421	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56037795	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57666908	0.82[EUR][1000 genomes]
rs6541343	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6541345	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662877	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6673491	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675959	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6681827	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66918029	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66961454	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180557	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67554381	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67612304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67681803	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67807923	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68193246	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7413345	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7415246	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515965	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520754	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525320	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533977	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7554714	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94774600-94787800	Weak transcription	Aorta	Aorta
2	chr1:94775000-94783000	Weak transcription	Right Ventricle	heart
3	chr1:94776600-94784000	Weak transcription	Lung	lung
4	chr1:94776600-94785200	Weak transcription	Left Ventricle	heart
5	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
6	chr1:94776800-94784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:94777000-94784000	Weak transcription	Gastric	stomach
8	chr1:94777000-94785000	Weak transcription	Right Atrium	heart
9	chr1:94777000-94785200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:94777800-94782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
12	chr1:94779600-94782600	Enhancers	Fetal Intestine Small	intestine
13	chr1:94780200-94782200	Weak transcription	Stomach Mucosa	stomach
14	chr1:94780200-94782800	Enhancers	Fetal Kidney	kidney
15	chr1:94780200-94784000	Weak transcription	Pancreas	Pancrea
16	chr1:94780600-94782200	Enhancers	A549	lung
17	chr1:94780800-94782400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:94781200-94782200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:94781400-94782200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:94781400-94783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94781400-94783200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:94781400-94783200	Flanking Active TSS	HepG2	liver
23	chr1:94781400-94783200	Enhancers	NHDF-Ad	bronchial
24	chr1:94781400-94783200	Enhancers	Osteobl	bone
25	chr1:94781400-94784000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:94781400-94785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:94781600-94784800	Enhancers	HUVEC	blood vessel
28	chr1:94781800-94782200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94781800-94782800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:94781800-94783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:94781800-94783600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:94781800-94784800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:94781800-94785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:94782000-94782200	Flanking Active TSS	Liver	Liver
35	chr1:94782000-94782400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:94782000-94783200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:94782000-94783200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:94782000-94783600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:94782000-94784600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:94782000-94785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:94782000-94785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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