Variant report

Variant	rs7969436
Chromosome Location	chr12:76089193-76089194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr12:76088462-76089210	HCT-116	colon:	n/a	n/a
2	GATA3	chr12:76088589-76089237	SK-N-SH	brain:	n/a	n/a
3	FOSL1	chr12:76088350-76089284	HCT-116	colon:	n/a	n/a
4	JUND	chr12:76088436-76089229	SK-N-SH	brain:	n/a	chr12:76088862-76088873

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76088271..76091093-chr12:76092388..76094453,2	MCF-7	breast:
2	chr12:76083117..76087359-chr12:76087852..76091604,4	MCF-7	breast:
3	chr12:76089100..76090003-chr4:100920586..100921561,2	MCF-7	breast:
4	chr12:76088110..76089922-chr12:76091900..76094708,2	K562	blood:
5	chr12:76084534..76087387-chr12:76088110..76091100,3	K562	blood:
6	chr12:76088110..76090693-chr12:76091900..76094765,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10879962	0.81[CEU][hapmap]
rs11180636	0.81[CEU][hapmap]
rs11180639	0.89[CEU][hapmap]
rs11180640	0.84[CEU][hapmap]
rs11180644	0.94[CEU][hapmap]
rs12315800	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs12581669	0.81[CHD][hapmap]
rs17115480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17223194	0.95[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6582297	0.83[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7132221	0.89[CEU][hapmap]
rs7309843	0.87[CEU][hapmap]
rs7313785	0.89[CEU][hapmap]
rs7967498	0.81[CEU][hapmap]
rs7978873	0.95[CEU][hapmap];0.92[EUR][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:19 , 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	chr12:76087800-76089600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:76087800-76089600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76087800-76089600	Enhancers	NHEK	skin
10	chr12:76088400-76089200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:76088400-76089400	Enhancers	K562	blood
12	chr12:76088400-76089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:76088400-76090000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:76088600-76098600	Weak transcription	NHDF-Ad	bronchial
15	chr12:76088800-76093400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:76089000-76093400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:76089000-76097000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:76089000-76100600	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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