Variant report

Variant	rs4277147
Chromosome Location	chr12:76084254-76084255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:76084207-76084761	HCT-116	colon:	n/a	n/a
2	EP300	chr12:76084217-76084996	A549	lung:	n/a	chr12:76084490-76084499
3	GATA3	chr12:76084147-76085019	A549	lung:	n/a	chr12:76084241-76084252
4	SP1	chr12:76084241-76084783	A549	lung:	n/a	n/a
5	MAX	chr12:76084004-76084906	A549	lung:	n/a	n/a
6	E2F6	chr12:76084138-76084830	A549	lung:	n/a	n/a
7	MXI1	chr12:76083731-76084997	IMR90	lung:	n/a	n/a
8	SP1	chr12:76084218-76084922	A549	lung:	n/a	n/a
9	REST	chr12:76084181-76084657	A549	lung:	n/a	chr12:76084417-76084437 chr12:76084417-76084437
10	POLR2A	chr12:76083645-76084850	IMR90	lung:	n/a	n/a
11	RAD21	chr12:76084231-76084756	A549	lung:	n/a	chr12:76084277-76084284
12	CEBPB	chr12:76084233-76084981	A549	lung:	n/a	n/a
13	CREB1	chr12:76084244-76084634	A549	lung:	n/a	n/a
14	FOXA2	chr12:76084119-76084732	A549	lung:	n/a	n/a
15	REST	chr12:76084205-76084659	PFSK-1	brain:	n/a	chr12:76084417-76084437 chr12:76084417-76084437
16	POLR2A	chr12:76084250-76084859	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr12:76084155-76084921	IMR90	lung:	n/a	chr12:76084277-76084284
18	FOXA2	chr12:76084134-76084922	A549	lung:	n/a	n/a
19	NR3C1	chr12:76084196-76084666	A549	lung:	n/a	n/a
20	FOSL2	chr12:76084175-76084958	A549	lung:	n/a	n/a
21	EP300	chr12:76084159-76084925	A549	lung:	n/a	chr12:76084490-76084499
22	MAX	chr12:76084113-76084867	A549	lung:	n/a	n/a
23	TCF12	chr12:76084050-76084894	A549	lung:	n/a	chr12:76084391-76084398
24	CEBPB	chr12:76084221-76084870	IMR90	lung:	n/a	n/a
25	MYC	chr12:76084129-76084858	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr12:76084024-76084856	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr12:76084228-76084635	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76077618..76079261-chr12:76083300..76084983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251893	TF binding region
ENSG00000258245	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11180641	0.87[CEU][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12319659	0.88[YRI][hapmap]
rs2860083	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71460142	0.83[AFR][1000 genomes]
rs7309843	0.88[YRI][hapmap]

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:25 , 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	chr12:76083000-76084400	Enhancers	NHDF-Ad	bronchial
5	chr12:76083200-76084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76083200-76084400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:76083200-76084400	Enhancers	NHLF	lung
8	chr12:76083200-76084600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:76083200-76085000	Enhancers	HMEC	breast
10	chr12:76083600-76085000	Enhancers	NHEK	skin
11	chr12:76083600-76087400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:76083800-76084400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:76083800-76084600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:76083800-76085000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:76083800-76085000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:76083800-76085000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:76083800-76085000	Enhancers	HSMM	muscle
18	chr12:76083800-76085000	Enhancers	NH-A	brain
19	chr12:76083800-76087000	Enhancers	Osteobl	bone
20	chr12:76084000-76084600	Enhancers	Fetal Stomach	stomach
21	chr12:76084200-76084600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:76084200-76084600	Enhancers	A549	lung
23	chr12:76084200-76084600	Enhancers	K562	blood
24	chr12:76084200-76084800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:76084200-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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