Variant report

Variant	rs12534062
Chromosome Location	chr7:127743022-127743023
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127740635..127743022-chr7:127746178..127748843,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10254438	1.00[ASN][1000 genomes]
rs10269842	1.00[ASN][1000 genomes]
rs10447853	1.00[ASN][1000 genomes]
rs10447854	1.00[ASN][1000 genomes]
rs10447855	1.00[ASN][1000 genomes]
rs12154534	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533765	1.00[ASN][1000 genomes]
rs12537331	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537840	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17151707	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17151739	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17679136	1.00[ASN][1000 genomes]
rs17679208	1.00[ASN][1000 genomes]
rs17732242	1.00[ASN][1000 genomes]
rs17735893	1.00[ASN][1000 genomes]
rs17735958	1.00[ASN][1000 genomes]
rs28399051	1.00[ASN][1000 genomes]
rs28541365	1.00[ASN][1000 genomes]
rs28558944	1.00[ASN][1000 genomes]
rs28566925	1.00[ASN][1000 genomes]
rs28625157	1.00[ASN][1000 genomes]
rs28692983	1.00[ASN][1000 genomes]
rs4731392	0.84[EUR][1000 genomes]
rs56340588	1.00[ASN][1000 genomes]
rs62484024	1.00[ASN][1000 genomes]
rs62484025	1.00[ASN][1000 genomes]
rs62484026	1.00[ASN][1000 genomes]
rs62484029	1.00[ASN][1000 genomes]
rs62484030	1.00[ASN][1000 genomes]
rs62484031	1.00[ASN][1000 genomes]
rs62484032	1.00[ASN][1000 genomes]
rs62484033	1.00[ASN][1000 genomes]
rs6953231	0.83[CEU][hapmap]
rs6962635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6965344	1.00[ASN][1000 genomes]
rs6975863	1.00[ASN][1000 genomes]
rs73226626	1.00[ASN][1000 genomes]
rs73232939	1.00[ASN][1000 genomes]
rs73238088	1.00[ASN][1000 genomes]
rs73239704	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239706	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73239710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127724600-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127726000-127743600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:127730400-127743800	Weak transcription	HSMM	muscle
4	chr7:127731400-127743600	Weak transcription	Brain Substantia Nigra	brain
5	chr7:127731800-127743600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:127732200-127743600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127732800-127743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:127733200-127743600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:127733200-127743800	Weak transcription	Small Intestine	intestine
10	chr7:127733600-127743400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:127733600-127743600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:127733800-127743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:127734200-127743600	Weak transcription	NHDF-Ad	bronchial
14	chr7:127734400-127744000	Weak transcription	A549	lung
15	chr7:127734400-127748200	Weak transcription	Dnd41	blood
16	chr7:127734600-127743600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:127734600-127743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127734800-127743600	Weak transcription	Brain Anterior Caudate	brain
19	chr7:127734800-127743600	Weak transcription	HUVEC	blood vessel
20	chr7:127735000-127743600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:127735000-127743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:127735800-127743600	Weak transcription	Ovary	ovary
23	chr7:127736200-127743600	Weak transcription	HMEC	breast
24	chr7:127736400-127743600	Weak transcription	Esophagus	oesophagus
25	chr7:127736400-127743600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:127736800-127743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:127737400-127743400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:127737800-127743600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:127738200-127743600	Weak transcription	GM12878-XiMat	blood
30	chr7:127738600-127743400	Weak transcription	Osteobl	bone
31	chr7:127738800-127743600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127738800-127743600	Weak transcription	Liver	Liver
33	chr7:127739000-127743400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:127739000-127743600	Weak transcription	Lung	lung
35	chr7:127739400-127743400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:127739800-127743600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127740600-127743400	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:127740600-127743400	Enhancers	HepG2	liver
39	chr7:127740600-127743800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:127740600-127743800	Enhancers	Spleen	Spleen
41	chr7:127740800-127743600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:127740800-127743800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:127741000-127743600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:127741200-127743400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:127741200-127743600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:127741200-127743600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:127741200-127743600	Weak transcription	Gastric	stomach
48	chr7:127741600-127743600	Weak transcription	Pancreas	Pancrea
49	chr7:127741600-127743800	Weak transcription	Aorta	Aorta
50	chr7:127742400-127743200	Enhancers	K562	blood

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