Variant report

Variant	rs17111436
Chromosome Location	chr1:94793683-94793684
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1054626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165103	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165114	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024941	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12027548	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031606	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12036085	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038745	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039546	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12046536	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12093742	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12562103	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12563826	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360365	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1576592	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1611832	0.94[EUR][1000 genomes]
rs1622451	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623248	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1629275	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687947	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687950	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111408	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17111426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765636	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1929131	0.86[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1999270	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1999271	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2130899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391472	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35275815	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789690	0.83[EUR][1000 genomes]
rs4543802	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847201	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847296	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55961421	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56037795	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57666908	0.83[EUR][1000 genomes]
rs6541343	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6541345	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662877	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6673491	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675959	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6681827	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66918029	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66961454	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180557	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67554381	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67612304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67681803	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67807923	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68193246	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7413345	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7415246	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515965	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520754	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525320	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533977	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7554714	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:94788400-94794000	Enhancers	NHLF	lung
3	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
4	chr1:94790200-94796000	Enhancers	HMEC	breast
5	chr1:94790400-94793800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:94790800-94799200	Enhancers	Fetal Heart	heart
7	chr1:94791200-94793800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:94791200-94793800	Enhancers	NHEK	skin
9	chr1:94791200-94795800	Weak transcription	Right Ventricle	heart
10	chr1:94791200-94796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:94791200-94798600	Weak transcription	Lung	lung
12	chr1:94791800-94794200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:94791800-94794600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:94791800-94796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:94792000-94794000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:94792400-94793800	Enhancers	Hela-S3	cervix
17	chr1:94792400-94793800	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:94792400-94800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:94792800-94793800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:94792800-94796000	Enhancers	A549	lung
21	chr1:94793000-94795000	Weak transcription	HepG2	liver
22	chr1:94793000-94795800	Weak transcription	Spleen	Spleen
23	chr1:94793000-94796000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:94793000-94796200	Enhancers	HUVEC	blood vessel
25	chr1:94793000-94798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:94793200-94793800	Enhancers	NH-A	brain
27	chr1:94793200-94794000	Enhancers	Fetal Kidney	kidney
28	chr1:94793200-94794800	Weak transcription	Left Ventricle	heart
29	chr1:94793200-94795200	Weak transcription	Gastric	stomach
30	chr1:94793200-94795400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:94793200-94795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:94793200-94795800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:94793200-94796000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:94793200-94796200	Enhancers	Osteobl	bone
35	chr1:94793200-94796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:94793200-94798600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:94793400-94793800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:94793400-94794000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:94793400-94794000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:94793400-94794000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:94793400-94794000	Enhancers	Adipose Nuclei	Adipose
43	chr1:94793400-94794200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:94793400-94794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:94793400-94794800	Enhancers	HSMM	muscle
46	chr1:94793400-94795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:94793400-94795000	Enhancers	HSMMtube	muscle
48	chr1:94793400-94795400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:94793400-94795400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:94793400-94795400	Weak transcription	Fetal Stomach	stomach

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