Variant report

Variant	rs12314537
Chromosome Location	chr12:122941349-122941350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122940258..122942262-chr12:122952738..122954252,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10161488	0.86[EUR][1000 genomes]
rs10744218	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10773108	0.84[EUR][1000 genomes]
rs10773117	0.86[EUR][1000 genomes]
rs10773162	0.92[EUR][1000 genomes]
rs10846714	0.80[EUR][1000 genomes]
rs10846852	0.92[EUR][1000 genomes]
rs10846899	0.81[ASN][1000 genomes]
rs10846912	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846968	0.85[ASN][1000 genomes]
rs11057813	0.83[EUR][1000 genomes]
rs11057819	0.83[EUR][1000 genomes]
rs11058272	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11503023	0.84[EUR][1000 genomes]
rs11830957	0.92[EUR][1000 genomes]
rs12812332	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12818177	0.84[EUR][1000 genomes]
rs12829449	0.91[EUR][1000 genomes]
rs1392142	0.90[EUR][1000 genomes]
rs1532579	0.90[EUR][1000 genomes]
rs1553178	0.82[EUR][1000 genomes]
rs2341438	0.92[EUR][1000 genomes]
rs3825096	0.90[EUR][1000 genomes]
rs4758664	0.90[EUR][1000 genomes]
rs4758693	0.82[EUR][1000 genomes]
rs6488947	0.83[EUR][1000 genomes]
rs7132830	0.82[ASN][1000 genomes]
rs7305360	0.89[EUR][1000 genomes]
rs7313121	0.80[EUR][1000 genomes]
rs7959550	0.92[EUR][1000 genomes]
rs7961258	0.86[EUR][1000 genomes]
rs7964981	0.93[EUR][1000 genomes]
rs7970007	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972832	0.90[EUR][1000 genomes]
rs7973480	0.90[EUR][1000 genomes]
rs7978119	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788228	0.81[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122935400-122943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122938800-122942000	Weak transcription	GM12878-XiMat	blood
5	chr12:122938800-122942200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:122938800-122943400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
10	chr12:122939000-122942200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122939000-122947400	Weak transcription	Placenta	Placenta
12	chr12:122939200-122942200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:122939200-122942200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:122939200-122942200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:122939200-122948000	Weak transcription	Hela-S3	cervix
16	chr12:122939400-122942000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:122939600-122943800	Weak transcription	A549	lung
18	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
19	chr12:122939800-122942000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:122940400-122942200	Enhancers	Fetal Intestine Large	intestine
21	chr12:122940800-122941400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:122941000-122943400	Weak transcription	HepG2	liver
23	chr12:122941200-122947400	Weak transcription	Fetal Intestine Small	intestine
24	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum

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