Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:76088271..76091093-chr12:76092388..76094453,2	MCF-7	breast:
2	chr12:76089791..76091590-chr12:76423370..76427266,4	MCF-7	breast:
3	chr12:76083117..76087359-chr12:76087852..76091604,4	MCF-7	breast:
4	chr12:76089100..76090003-chr4:100920586..100921561,2	MCF-7	breast:
5	chr12:76084534..76087387-chr12:76088110..76091100,3	K562	blood:
6	chr12:76088110..76090693-chr12:76091900..76094765,3	K562	blood:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10785209	0.85[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs10879957	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10879961	0.90[LWK][hapmap];0.82[MKK][hapmap];0.80[AFR][1000 genomes]
rs10879965	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180635	0.90[LWK][hapmap];0.84[MKK][hapmap];0.80[AFR][1000 genomes]
rs11180636	0.83[AFR][1000 genomes]
rs34436231	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133151	0.84[CHD][hapmap]
rs7397571	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7399071	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488544	0.81[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956658	0.83[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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
3	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
4	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
5	chr12:76086200-76093600	Weak transcription	NHLF	lung
6	chr12:76086800-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:76088400-76090000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:76088600-76098600	Weak transcription	NHDF-Ad	bronchial
9	chr12:76088800-76093400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:76089000-76093400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:76089000-76097000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:76089000-76100600	Weak transcription	HMEC	breast
14	chr12:76089200-76090200	Enhancers	HepG2	liver
15	chr12:76089200-76098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:76089600-76090400	Enhancers	Fetal Intestine Small	intestine
17	chr12:76089600-76099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:76089600-76100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:76089600-76100400	Weak transcription	NHEK	skin
20	chr12:76089800-76090000	Enhancers	K562	blood

Quick Search: