Variant report

Variant	rs12191120
Chromosome Location	chr6:132153315-132153316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132128351..132130112-chr6:132152818..132154980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2021315	0.86[ASN][1000 genomes]
rs2064774	0.87[ASN][1000 genomes]
rs2327173	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916495	0.86[EUR][1000 genomes]
rs71572984	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7771242	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7771841	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858335	0.94[ASN][1000 genomes]
rs858339	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:132141200-132158000	Weak transcription	Aorta	Aorta
8	chr6:132141600-132172000	Weak transcription	HSMM	muscle
9	chr6:132143200-132157800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:132145800-132171800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
12	chr6:132149200-132161800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:132149600-132156800	Weak transcription	Liver	Liver
14	chr6:132149600-132162000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:132149800-132172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:132151400-132157800	Weak transcription	Fetal Kidney	kidney
17	chr6:132151600-132153400	Weak transcription	Ovary	ovary
18	chr6:132151600-132164800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:132151600-132182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:132152000-132153400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:132152000-132153400	Enhancers	Osteobl	bone
22	chr6:132152000-132154000	Enhancers	NHLF	lung
23	chr6:132152200-132153400	Weak transcription	Pancreas	Pancrea
24	chr6:132152400-132153400	Enhancers	NHDF-Ad	bronchial
25	chr6:132152600-132153600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:132152600-132153800	Enhancers	HSMMtube	muscle
27	chr6:132152600-132154400	Enhancers	HepG2	liver
28	chr6:132152800-132157600	Weak transcription	A549	lung
29	chr6:132153000-132153400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:132153200-132154200	Enhancers	Placenta Amnion	Placenta Amnion

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