Variant report

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	CBX3	chr12:76088255-76089184	HCT-116	colon:	n/a	n/a
4	FOS	chr12:76088621-76089039	MCF10A-Er-Src	breast:	n/a	chr12:76088862-76088873
5	RCOR1	chr12:76088892-76089085	K562	blood:	n/a	n/a
6	FOS	chr12:76088684-76089058	HUVEC	blood vessel:	n/a	chr12:76088862-76088873
7	FOS	chr12:76088546-76089048	MCF10A-Er-Src	breast:	n/a	chr12:76088862-76088873
8	ATF1	chr12:76088834-76089049	K562	blood:	n/a	n/a
9	FOS	chr12:76088677-76089039	MCF10A-Er-Src	breast:	n/a	chr12:76088862-76088873
10	CUX1	chr12:76088619-76089016	K562	blood:	n/a	n/a
11	STAT3	chr12:76088828-76089024	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr12:76088742-76089022	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL1	chr12:76088350-76089284	HCT-116	colon:	n/a	n/a
14	TCF7L2	chr12:76088656-76089163	HCT-116	colon:	n/a	n/a
15	FOS	chr12:76088545-76089049	MCF10A-Er-Src	breast:	n/a	chr12:76088862-76088873
16	JUND	chr12:76088679-76089081	K562	blood:	n/a	chr12:76088862-76088873
17	JUND	chr12:76088436-76089229	SK-N-SH	brain:	n/a	chr12:76088862-76088873
18	STAT3	chr12:76088728-76089083	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFK	chr12:76088890-76089055	K562	blood:	n/a	n/a

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12299593	1.00[AMR][1000 genomes]
rs12322226	1.00[AMR][1000 genomes]
rs17115466	1.00[AMR][1000 genomes]
rs17115472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115488	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126462	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805125	1.00[AMR][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:21 , 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	chr12:76088200-76089000	Enhancers	HMEC	breast
11	chr12:76088400-76089000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:76088400-76089200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:76088400-76089400	Enhancers	K562	blood
14	chr12:76088400-76089600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:76088400-76090000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:76088600-76089000	Enhancers	A549	lung
17	chr12:76088600-76098600	Weak transcription	NHDF-Ad	bronchial
18	chr12:76088800-76089000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:76088800-76089000	Enhancers	Osteobl	bone
20	chr12:76088800-76093400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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