Variant report

Variant	rs7397453
Chromosome Location	chr12:56612311-56612312
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	POLR2A	chr12:56612157-56612356	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56609459..56611530-chr12:56611977..56613892,2	MCF-7	breast:
2	chr12:56609459..56612925-chr12:56614221..56618096,8	MCF-7	breast:

Variant related genes	Relation type
NABP2	TF binding region
RNF41	TF binding region
ENSG00000181852	Chromatin interaction
ENSG00000139579	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1274501	0.86[AFR][1000 genomes]
rs2450101	0.83[AFR][1000 genomes]
rs2629449	0.87[AFR][1000 genomes]
rs4759219	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56585000-56614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56592600-56613600	Weak transcription	Right Atrium	heart
3	chr12:56598000-56613600	Strong transcription	Fetal Stomach	stomach
4	chr12:56598200-56613800	Strong transcription	Fetal Intestine Small	intestine
5	chr12:56599200-56614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:56600400-56612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:56601200-56613800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:56601800-56614400	Weak transcription	Psoas Muscle	Psoas
9	chr12:56606600-56613400	Weak transcription	Fetal Heart	heart
10	chr12:56607000-56614800	Weak transcription	Small Intestine	intestine
11	chr12:56607800-56614200	Weak transcription	Stomach Mucosa	stomach
12	chr12:56607800-56614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:56607800-56614400	Weak transcription	NHDF-Ad	bronchial
14	chr12:56607800-56614600	Weak transcription	Esophagus	oesophagus
15	chr12:56608000-56614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:56608000-56614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:56608000-56614400	Weak transcription	HMEC	breast
18	chr12:56608000-56614600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:56609000-56613400	Weak transcription	Fetal Brain Male	brain
20	chr12:56609000-56614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:56609200-56613600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:56609200-56613800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:56609200-56614000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:56609200-56614200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:56609200-56614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:56609200-56614400	Weak transcription	HepG2	liver
27	chr12:56609200-56614600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:56609200-56614600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:56610400-56613800	Weak transcription	Brain Angular Gyrus	brain
30	chr12:56610400-56613800	Weak transcription	Hela-S3	cervix
31	chr12:56610400-56614000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:56610400-56614400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:56610400-56614400	Weak transcription	NH-A	brain
34	chr12:56610600-56612400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:56610600-56612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:56610600-56613200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:56610600-56613200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:56610600-56613200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:56610600-56613200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:56610600-56613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:56610600-56613400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:56610600-56613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:56610600-56613400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:56610600-56613400	Weak transcription	HUVEC	blood vessel
45	chr12:56610600-56613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:56610600-56613600	Weak transcription	Fetal Lung	lung
47	chr12:56610600-56613600	Weak transcription	Left Ventricle	heart
48	chr12:56610600-56613600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:56610600-56613800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56610600-56613800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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