Variant report

Variant	rs73262620
Chromosome Location	chr12:10335644-10335645
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	TCF7L2	chr12:10335249-10335735	Hela-S3	cervix:	n/a	chr12:10335640-10335656 chr12:10335644-10335653 chr12:10335643-10335652 chr12:10335641-10335655 chr12:10335493-10335502 chr12:10335640-10335656 chr12:10335494-10335503
2	STAT3	chr12:10335145-10335656	MCF10A-Er-Src	breast:	n/a	chr12:10335471-10335478 chr12:10335412-10335423
3	FOSL2	chr12:10335146-10335729	A549	lung:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
4	E2F4	chr12:10335358-10335904	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:10335065-10335712	IMR90	lung:	n/a	n/a
6	MYC	chr12:10335245-10335754	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr12:10335170-10335709	Hela-S3	cervix:	n/a	chr12:10335471-10335478 chr12:10335412-10335423
8	FOS	chr12:10335050-10335685	MCF10A-Er-Src	breast:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
9	FOS	chr12:10335172-10335679	MCF10A-Er-Src	breast:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
10	EP300	chr12:10335085-10335732	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr12:10335239-10335856	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr12:10335092-10335668	MCF10A-Er-Src	breast:	n/a	chr12:10335471-10335478 chr12:10335412-10335423
13	FOS	chr12:10335138-10335679	MCF10A-Er-Src	breast:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
14	RFX5	chr12:10334957-10336004	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:10335151-10335698	Hela-S3	cervix:	n/a	n/a
16	MYC	chr12:10335335-10335645	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr12:10335179-10335732	Hela-S3	cervix:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
18	FOS	chr12:10335273-10335695	MCF10A-Er-Src	breast:	n/a	chr12:10335497-10335505 chr12:10335494-10335503
19	TCF7L2	chr12:10335245-10335924	Hela-S3	cervix:	n/a	chr12:10335640-10335656 chr12:10335644-10335653 chr12:10335643-10335652 chr12:10335641-10335655 chr12:10335493-10335502 chr12:10335640-10335656 chr12:10335494-10335503

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10334882..10336740-chr12:10339192..10340693,2	K562	blood:

Variant related genes	Relation type
TMEM52B	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73262623	0.92[AFR][1000 genomes]
rs73262629	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10331800-10336600	Weak transcription	Fetal Stomach	stomach
3	chr12:10332800-10337000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:10333200-10336600	Weak transcription	Placenta	Placenta
5	chr12:10333400-10337200	Enhancers	Hela-S3	cervix
6	chr12:10334000-10337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:10334600-10336000	Enhancers	NHEK	skin
8	chr12:10334600-10336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:10334600-10336800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:10334600-10336800	Enhancers	NHLF	lung
11	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:10334800-10335800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:10334800-10336000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:10334800-10336000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:10334800-10336000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:10334800-10336000	Enhancers	HMEC	breast
17	chr12:10334800-10336200	Enhancers	Osteobl	bone
18	chr12:10334800-10337200	Enhancers	NHDF-Ad	bronchial
19	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:10335000-10335800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:10335000-10335800	Enhancers	A549	lung
22	chr12:10335000-10336000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:10335000-10336000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10335000-10336800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:10335200-10337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:10335600-10336400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:10335600-10337000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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