Variant report

Variant	rs660743
Chromosome Location	chr7:112517826-112517827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10273589	0.85[JPT][hapmap]
rs1227163	0.85[JPT][hapmap]
rs1227171	0.85[JPT][hapmap]
rs1227174	1.00[JPT][hapmap]
rs1227181	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs1227190	0.85[JPT][hapmap]
rs1238698	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs12535487	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12539085	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1533851	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1547554	0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718944	0.95[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1718948	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718961	0.88[EUR][1000 genomes]
rs1718967	0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1796492	0.85[JPT][hapmap]
rs1796493	0.85[JPT][hapmap]
rs1796512	0.86[EUR][1000 genomes]
rs1796516	0.85[JPT][hapmap]
rs1996843	0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2396573	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2396574	0.95[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457	0.85[JPT][hapmap]
rs2687267	0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2708295	0.86[EUR][1000 genomes]
rs2708296	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs3997335	0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3997336	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs494324	0.95[CEU][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs548994	0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs549688	0.89[YRI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs552304	0.95[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564494	0.85[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs565641	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58858661	0.93[EUR][1000 genomes]
rs62472532	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6466421	0.85[JPT][hapmap]
rs672911	0.95[CEU][hapmap];0.85[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs685259	0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6948575	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6953522	0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6967716	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777973	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs7785774	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803405	0.85[JPT][hapmap]
rs821782	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821783	0.85[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs821785	0.85[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs821787	0.85[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9969347	0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
5	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3477469	chr7:112512817-112520855	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3477470	chr7:112512817-112520855	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv499470	chr7:112512995-112520708	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2421832	chr7:112513666-112520496	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv442063	chr7:112514120-112518061	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv824271	chr7:112514494-112520613	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv824272	chr7:112514494-112520713	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv514443	chr7:112514692-112520236	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:112499600-112518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:112500600-112521200	Weak transcription	Thymus	Thymus
12	chr7:112501400-112518000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:112509200-112521000	Weak transcription	Right Atrium	heart
17	chr7:112509400-112521000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:112509400-112521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:112509400-112521000	Weak transcription	Esophagus	oesophagus
20	chr7:112509400-112521000	Weak transcription	Fetal Stomach	stomach
21	chr7:112509400-112521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:112509400-112523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:112509400-112532400	Weak transcription	Dnd41	blood
24	chr7:112510200-112521600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:112510600-112525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:112511400-112524600	Weak transcription	Brain Germinal Matrix	brain
27	chr7:112512400-112518600	Weak transcription	Fetal Lung	lung
28	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:112513000-112518800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:112513000-112522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:112513800-112526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:112513800-112533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:112514600-112521800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:112515200-112521000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:112515200-112521200	Weak transcription	Gastric	stomach
36	chr7:112515200-112521400	Weak transcription	Pancreas	Pancrea
37	chr7:112515200-112534000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:112515400-112533000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:112515400-112533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:112516000-112518200	Strong transcription	Primary T cells from cord blood	blood
42	chr7:112516000-112519400	Enhancers	Fetal Intestine Small	intestine
43	chr7:112516000-112523000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:112516000-112533000	Weak transcription	Fetal Kidney	kidney
45	chr7:112516000-112533200	Weak transcription	Fetal Brain Male	brain
46	chr7:112516000-112537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:112516200-112518400	Enhancers	Primary B cells from cord blood	blood
48	chr7:112516400-112520800	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:112516400-112529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain

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