Variant report

Variant	rs11058209
Chromosome Location	chr12:122935945-122935946
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	chr12:122934144..122936687-chr12:122938638..122940695,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10734918	0.84[EUR][1000 genomes]
rs10744192	0.84[EUR][1000 genomes]
rs10744208	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10744209	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10744210	0.84[EUR][1000 genomes]
rs10744211	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10744217	0.85[EUR][1000 genomes]
rs10773167	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10773172	0.85[EUR][1000 genomes]
rs10773176	0.84[EUR][1000 genomes]
rs10773178	0.82[EUR][1000 genomes]
rs10846764	0.81[EUR][1000 genomes]
rs10846792	0.83[EUR][1000 genomes]
rs10846830	0.84[EUR][1000 genomes]
rs10846921	0.84[EUR][1000 genomes]
rs11057882	0.84[EUR][1000 genomes]
rs11058034	0.84[EUR][1000 genomes]
rs11058226	0.85[EUR][1000 genomes]
rs11058251	0.81[EUR][1000 genomes]
rs11616082	0.81[EUR][1000 genomes]
rs1973463	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34129612	0.82[EUR][1000 genomes]
rs4758643	0.84[EUR][1000 genomes]
rs4758644	0.84[EUR][1000 genomes]
rs4758645	0.83[EUR][1000 genomes]
rs4758648	0.84[EUR][1000 genomes]
rs4758662	0.84[EUR][1000 genomes]
rs4758666	0.84[EUR][1000 genomes]
rs6488951	0.81[EUR][1000 genomes]
rs6488958	0.83[EUR][1000 genomes]
rs6489002	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7135419	0.84[EUR][1000 genomes]
rs7301515	0.81[EUR][1000 genomes]
rs7398014	0.84[EUR][1000 genomes]
rs7964138	0.82[EUR][1000 genomes]
rs7969429	0.83[EUR][1000 genomes]
rs7974262	0.84[EUR][1000 genomes]
rs9788145	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931400-122938200	Weak transcription	HepG2	liver
3	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:122934200-122936800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:122934400-122937400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:122934400-122937400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:122934400-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122934600-122937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:122934600-122937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122934600-122937800	Weak transcription	Hela-S3	cervix
14	chr12:122934600-122938400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:122934600-122938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:122934600-122938400	Weak transcription	NHEK	skin
17	chr12:122934600-122938600	Weak transcription	A549	lung
18	chr12:122934600-122938600	Weak transcription	HMEC	breast
19	chr12:122934800-122936600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:122934800-122936800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:122934800-122937400	Weak transcription	Small Intestine	intestine
22	chr12:122934800-122938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:122935400-122937400	Weak transcription	Placenta	Placenta
25	chr12:122935400-122943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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