Variant report

Variant	rs12532716
Chromosome Location	chr7:40788747-40788748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013575	1.00[EUR][1000 genomes]
rs1013576	1.00[EUR][1000 genomes]
rs10486815	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11981180	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12531154	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12531482	1.00[EUR][1000 genomes]
rs12531846	1.00[EUR][1000 genomes]
rs12532916	1.00[EUR][1000 genomes]
rs12534713	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534734	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538260	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12538963	1.00[EUR][1000 genomes]
rs12539159	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12540647	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12540736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12540807	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17171781	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17171782	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17714132	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714523	1.00[EUR][1000 genomes]
rs17770820	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921751	1.00[EUR][1000 genomes]
rs1990190	1.00[EUR][1000 genomes]
rs2302027	1.00[EUR][1000 genomes]
rs35105954	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720372	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4720374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4720375	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720376	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720382	1.00[EUR][1000 genomes]
rs4720383	1.00[EUR][1000 genomes]
rs4723975	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723981	1.00[EUR][1000 genomes]
rs723837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781779	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794957	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40761400-40792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:40785600-40789600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:40785600-40790000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:40786000-40793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:40786200-40789800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:40786400-40790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:40786400-40790200	Enhancers	Osteobl	bone
8	chr7:40786600-40790000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:40786600-40794000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:40786600-40795200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:40786800-40790000	Enhancers	NHDF-Ad	bronchial
12	chr7:40787000-40790000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:40787400-40789600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:40787400-40793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:40787600-40789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:40787600-40795200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:40787800-40789000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:40787800-40789000	Weak transcription	HMEC	breast
19	chr7:40787800-40789200	Weak transcription	NHEK	skin
20	chr7:40787800-40789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:40787800-40792400	Weak transcription	Hela-S3	cervix
22	chr7:40787800-40792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:40787800-40794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:40787800-40795200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:40787800-40802800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:40788200-40788800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:40788200-40789800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:40788400-40789600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:40788400-40789600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:40788400-40790000	Enhancers	HSMM	muscle
31	chr7:40788400-40791000	Weak transcription	Pancreas	Pancrea
32	chr7:40788600-40789800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:40788600-40790000	Enhancers	HSMMtube	muscle

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