Variant report

Variant	rs753616
Chromosome Location	chr12:26398239-26398240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26397687..26399446-chr12:26426003..26429309,3	K562	blood:
2	chr12:26397649..26399446-chr12:26426022..26429309,3	K562	blood:
3	chr12:26346592..26349220-chr12:26396340..26398794,2	MCF-7	breast:
4	chr12:26396952..26399057-chr12:26429101..26431278,2	MCF-7	breast:
5	chr12:26391033..26392686-chr12:26398068..26399951,2	MCF-7	breast:
6	chr12:26389613..26392747-chr12:26395888..26399490,3	K562	blood:

Variant related genes	Relation type
ENSG00000123096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11048441	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12311177	1.00[JPT][hapmap]
rs1355734	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1480040	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1480044	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480045	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533249	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1913234	0.81[EUR][1000 genomes]
rs2343875	0.81[EUR][1000 genomes]
rs4963659	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7295825	0.81[EUR][1000 genomes]
rs7955911	1.00[JPT][hapmap]
rs7976541	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26393000-26400200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:26393000-26400400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:26393800-26398600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:26393800-26398800	Weak transcription	Colonic Mucosa	Colon
5	chr12:26394000-26398400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:26394000-26404600	Weak transcription	Pancreas	Pancrea
7	chr12:26395600-26400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26396000-26401000	Enhancers	Stomach Mucosa	stomach
9	chr12:26396400-26398400	Weak transcription	Fetal Intestine Large	intestine
10	chr12:26396400-26398800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:26396600-26398800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:26397000-26398800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:26397000-26401000	Enhancers	HMEC	breast
14	chr12:26397400-26398400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:26397600-26398800	Enhancers	Brain Substantia Nigra	brain
16	chr12:26397600-26400400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:26397800-26398400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:26397800-26398800	Weak transcription	Hela-S3	cervix
19	chr12:26397800-26399200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:26397800-26400400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:26397800-26401200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:26398000-26398400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:26398000-26399000	Enhancers	Brain Hippocampus Middle	brain
24	chr12:26398000-26400400	Enhancers	NHEK	skin
25	chr12:26398200-26398600	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:26398200-26398800	Enhancers	Brain Angular Gyrus	brain
27	chr12:26398200-26399200	Enhancers	Small Intestine	intestine
28	chr12:26398200-26399800	Enhancers	Placenta	Placenta
29	chr12:26398200-26400000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:26398200-26400000	Enhancers	Duodenum Mucosa	Duodenum

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