Variant report

Variant	rs3923693
Chromosome Location	chr12:48337629-48337630
allele	C/T
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	MAFK	chr12:48337293-48337642	HepG2	liver:	n/a	chr12:48337461-48337481 chr12:48337463-48337479 chr12:48337464-48337478 chr12:48337460-48337475 chr12:48337467-48337477 chr12:48337465-48337474
2	MAX	chr12:48337555-48337724	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr12:48337515-48337705	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr12:48337307-48337653	Hela-S3	cervix:	n/a	chr12:48337461-48337481 chr12:48337463-48337479 chr12:48337464-48337478 chr12:48337460-48337475 chr12:48337467-48337477 chr12:48337465-48337474
5	MYC	chr12:48337533-48337719	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr12:48337472-48337708	HCT-116	colon:	n/a	n/a
7	GATA3	chr12:48337350-48337765	T-47D	breast:	n/a	n/a
8	MAFF	chr12:48337284-48337673	HepG2	liver:	n/a	chr12:48337458-48337476 chr12:48337464-48337478
9	MAFK	chr12:48337302-48337636	HepG2	liver:	n/a	chr12:48337461-48337481 chr12:48337463-48337479 chr12:48337464-48337478 chr12:48337460-48337475 chr12:48337467-48337477 chr12:48337465-48337474
10	TCF7L2	chr12:48337151-48337798	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr12:48337234-48337820	HCT-116	colon:	n/a	n/a
12	TCF7L2	chr12:48337302-48337741	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
2	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
3	chr12:48337421..48339727-chr12:48348343..48351115,2	MCF-7	breast:

Variant related genes	Relation type
VDR	TF binding region
ENSG00000111424	Chromatin interaction

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

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

rs_ID	r²[population]
rs12721414	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12721417	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12822608	0.80[AMR][1000 genomes]
rs2158514	0.80[AMR][1000 genomes]
rs34433333	0.80[AMR][1000 genomes]
rs36029544	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288816	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3423120	chr12:48335210-48338058	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 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	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
3	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
4	chr12:48333000-48339200	Weak transcription	HSMM	muscle
5	chr12:48335800-48338200	Enhancers	Spleen	Spleen
6	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:48336000-48337800	Enhancers	Pancreas	Pancrea
8	chr12:48336000-48338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48336000-48339200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:48336200-48338000	Enhancers	Fetal Intestine Small	intestine
11	chr12:48336200-48338200	Enhancers	Fetal Intestine Large	intestine
12	chr12:48336200-48340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:48336200-48340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48336600-48338000	Enhancers	Esophagus	oesophagus
15	chr12:48336600-48339200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:48336600-48340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:48336600-48341200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
19	chr12:48336800-48339600	Weak transcription	HSMMtube	muscle
20	chr12:48337000-48337800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:48337200-48340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:48337400-48337800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:48337400-48337800	Enhancers	Colonic Mucosa	Colon
24	chr12:48337400-48338000	Enhancers	HMEC	breast
25	chr12:48337400-48338000	Enhancers	NHEK	skin
26	chr12:48337600-48337800	Enhancers	Placenta	Placenta
27	chr12:48337600-48339600	Enhancers	Hela-S3	cervix

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