Variant report

Variant	rs2009503
Chromosome Location	chr7:102535145-102535146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10257543	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10267275	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.84[ASN][1000 genomes]
rs10273725	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10435335	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10487283	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10499952	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1100044	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11543736	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11970869	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11972019	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972644	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11973870	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11978670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11978768	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11978799	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11980643	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11981980	0.92[CEU][hapmap]
rs11983456	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11983521	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12056296	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12532495	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533386	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12538955	0.81[EUR][1000 genomes]
rs12540384	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12666764	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12667218	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12668434	0.92[CEU][hapmap]
rs12669668	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12671803	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13242493	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17136090	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs17136137	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2159022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2190673	0.98[EUR][1000 genomes]
rs2228686	0.84[EUR][1000 genomes]
rs2411056	0.94[EUR][1000 genomes]
rs2411059	0.96[EUR][1000 genomes]
rs2908412	0.84[CEU][hapmap]
rs35479298	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779029	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41501847	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4296965	0.94[EUR][1000 genomes]
rs56894117	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56921864	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57253646	0.80[EUR][1000 genomes]
rs57350619	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57368671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57545514	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57616389	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57776797	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58191643	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58680618	0.89[EUR][1000 genomes]
rs58814323	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58919995	0.81[EUR][1000 genomes]
rs59278165	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59544295	0.82[EUR][1000 genomes]
rs59709436	0.82[EUR][1000 genomes]
rs60524601	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60599650	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61404409	0.83[AFR][1000 genomes]
rs61679881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6465877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465878	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs6465879	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465882	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465885	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6942855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6945369	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6946773	0.92[CEU][hapmap];0.95[YRI][hapmap];0.80[EUR][1000 genomes]
rs6947403	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6949150	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6951288	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6953980	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6956781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6957434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6957771	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967389	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6968713	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6973081	0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs6975388	0.80[EUR][1000 genomes]
rs6975451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6976005	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6977145	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73406250	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73406284	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73406302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73408204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73408250	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7779121	0.84[YRI][hapmap]
rs7779145	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs7779618	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7780405	0.92[CEU][hapmap]
rs7780981	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7796335	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7800387	0.83[CEU][hapmap]
rs7804322	0.94[EUR][1000 genomes]
rs847646	0.98[EUR][1000 genomes]
rs847647	1.00[CEU][hapmap]
rs847652	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs847656	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs847658	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs865865	0.98[EUR][1000 genomes]
rs955992	0.92[CEU][hapmap]
rs9690210	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517000-102549600	Weak transcription	Gastric	stomach
2	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:102522600-102549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102529000-102535600	Weak transcription	Right Atrium	heart
5	chr7:102530400-102535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:102532400-102535600	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:102532400-102535800	Weak transcription	Ovary	ovary
8	chr7:102532400-102535800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:102532400-102538000	Weak transcription	Stomach Mucosa	stomach
10	chr7:102532400-102538800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:102532400-102538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:102532600-102535400	Enhancers	NHDF-Ad	bronchial
13	chr7:102532600-102535600	Weak transcription	Aorta	Aorta
14	chr7:102532600-102535600	Weak transcription	Fetal Stomach	stomach
15	chr7:102532600-102535600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:102532600-102536000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:102533400-102537800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:102533600-102535600	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:102533600-102535600	Weak transcription	Fetal Lung	lung
20	chr7:102533600-102536800	Weak transcription	Fetal Kidney	kidney
21	chr7:102533600-102537200	Weak transcription	NHLF	lung
22	chr7:102533600-102537800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:102533600-102537800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:102533800-102535400	Weak transcription	K562	blood
25	chr7:102533800-102536000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:102533800-102537000	Weak transcription	NH-A	brain
27	chr7:102533800-102538000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:102533800-102538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:102534000-102537400	Weak transcription	HUVEC	blood vessel
30	chr7:102534000-102537800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:102534000-102537800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:102534000-102538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:102534000-102538800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:102534600-102535800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:102534600-102536600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:102534600-102537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:102534800-102536000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:102534800-102536800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:102535000-102536000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:102535000-102536000	Weak transcription	HSMM	muscle

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