Variant report

Variant	rs7296927
Chromosome Location	chr12:106682158-106682159
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106681884..106684629-chr12:106690142..106692721,2	MCF-7	breast:
2	chr12:106638556..106642995-chr12:106679966..106686733,8	MCF-7	breast:
3	chr12:106679605..106682241-chr12:106684127..106685839,2	K562	blood:
4	chr12:106680960..106683354-chr12:106688699..106690520,2	K562	blood:
5	chr12:106673784..106675625-chr12:106681211..106683347,2	MCF-7	breast:
6	chr12:106676469..106679734-chr12:106680347..106683277,4	MCF-7	breast:
7	chr12:106675049..106678623-chr12:106679950..106682858,3	K562	blood:
8	chr12:106532573..106534349-chr12:106680398..106683180,2	MCF-7	breast:
9	chr12:106680059..106682241-chr12:106684339..106687312,2	K562	blood:
10	chr12:106532442..106534765-chr12:106681065..106683519,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10778462	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10778463	0.91[ASN][1000 genomes]
rs10861573	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831752	0.94[ASN][1000 genomes]
rs1392176	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532586	0.94[ASN][1000 genomes]
rs4964460	0.93[ASN][1000 genomes]
rs6539261	0.97[ASN][1000 genomes]
rs6539262	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6539263	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539264	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297359	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298576	0.88[ASN][1000 genomes]
rs7957421	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7965175	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7965616	0.97[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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106677200-106682200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:106677200-106683600	Enhancers	HepG2	liver
3	chr12:106678600-106682800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:106678600-106688800	Weak transcription	Lung	lung
5	chr12:106678800-106682600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:106678800-106682600	Weak transcription	HSMMtube	muscle
7	chr12:106679000-106682400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:106679000-106682400	Weak transcription	HUVEC	blood vessel
9	chr12:106679000-106682600	Weak transcription	Esophagus	oesophagus
10	chr12:106680000-106682600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
12	chr12:106680400-106684600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:106680800-106683400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:106680800-106683400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:106680800-106683400	Enhancers	HMEC	breast
16	chr12:106681000-106682400	Enhancers	Hela-S3	cervix
17	chr12:106681000-106682600	Enhancers	NHEK	skin
18	chr12:106681000-106683400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:106681200-106682400	Enhancers	A549	lung
20	chr12:106681200-106683400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:106681400-106682400	Weak transcription	Stomach Mucosa	stomach
22	chr12:106681400-106683200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:106681400-106683200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:106681400-106683400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:106681400-106683600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:106681600-106682400	Weak transcription	Osteobl	bone
27	chr12:106681600-106682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:106681800-106683000	Enhancers	NH-A	brain
29	chr12:106681800-106683400	Enhancers	K562	blood
30	chr12:106682000-106682400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:106682000-106683200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:106682000-106683200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:106682000-106683400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:106682000-106683400	Enhancers	NHDF-Ad	bronchial
35	chr12:106682000-106684600	Weak transcription	Rectal Mucosa Donor 31	rectum

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