Variant report

Variant	rs12532347
Chromosome Location	chr7:128317032-128317033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128313604..128317157-chr7:128377599..128380087,3	MCF-7	breast:
2	chr7:128311765..128313287-chr7:128315419..128318382,2	MCF-7	breast:
3	chr7:128315703..128318662-chr7:128379555..128382281,2	K562	blood:
4	chr7:128316743..128318662-chr7:128378501..128382281,3	K562	blood:
5	chr7:128316192..128317844-chr7:128470310..128471860,2	K562	blood:
6	chr7:128316196..128317908-chr7:128499953..128502439,2	K562	blood:
7	chr7:128311074..128314785-chr7:128316400..128318608,3	K562	blood:

Variant related genes	Relation type
ENSG00000128591	Chromatin interaction
ENSG00000205085	Chromatin interaction
ENSG00000128595	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10954208	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10954209	0.86[EUR][1000 genomes]
rs10954210	0.88[EUR][1000 genomes]
rs11763357	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534956	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2003954	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2013189	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060718	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403867	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57185253	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58709686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58781928	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60117311	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481882	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481884	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481943	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483312	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6971091	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73723614	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12532347	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs12532347	RP11-274B21.4	cis	lung	GTEx
rs12532347	RP11-274B21.2	cis	Thyroid	GTEx
rs12532347	CICP14	cis	Thyroid	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128319600	Weak transcription	NHLF	lung
2	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
4	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
5	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
8	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
13	chr7:128302400-128337200	Weak transcription	Gastric	stomach
14	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
16	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:128303600-128319400	Weak transcription	Fetal Brain Female	brain
18	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
19	chr7:128305400-128317600	Weak transcription	Osteobl	bone
20	chr7:128308400-128323800	Weak transcription	A549	lung
21	chr7:128309000-128323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:128310000-128319600	Weak transcription	Adipose Nuclei	Adipose
23	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:128310600-128323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:128311200-128318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:128311200-128319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:128311200-128327000	Weak transcription	HSMM	muscle
28	chr7:128311600-128327800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:128312200-128318200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:128312200-128322800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:128312400-128325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:128312600-128325400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:128313200-128319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:128313200-128321600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:128313200-128325200	Weak transcription	Ovary	ovary
36	chr7:128313400-128319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:128313400-128322000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:128313400-128329400	Weak transcription	Esophagus	oesophagus
39	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:128313600-128322200	Weak transcription	Brain Germinal Matrix	brain
41	chr7:128313600-128327200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:128313600-128327600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
44	chr7:128313800-128319800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:128313800-128322200	Weak transcription	HSMMtube	muscle
46	chr7:128313800-128322400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:128313800-128323000	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:128316400-128322400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:128316600-128323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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