Variant report

Variant	rs11058233
Chromosome Location	chr12:122940075-122940076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
2	chr12:122905298..122908189-chr12:122936931..122940541,4	K562	blood:
3	chr12:122934144..122936687-chr12:122938638..122940695,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10734918	0.86[EUR][1000 genomes]
rs10744192	0.81[EUR][1000 genomes]
rs10744208	0.84[EUR][1000 genomes]
rs10744209	0.84[EUR][1000 genomes]
rs10744210	0.86[EUR][1000 genomes]
rs10744211	0.86[EUR][1000 genomes]
rs10744217	0.85[EUR][1000 genomes]
rs10773103	0.80[EUR][1000 genomes]
rs10773167	0.86[EUR][1000 genomes]
rs10773172	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773176	0.84[EUR][1000 genomes]
rs10773178	0.82[EUR][1000 genomes]
rs10846699	0.80[EUR][1000 genomes]
rs10846746	0.80[EUR][1000 genomes]
rs10846764	0.82[EUR][1000 genomes]
rs10846792	0.84[EUR][1000 genomes]
rs10846830	0.86[EUR][1000 genomes]
rs10846921	0.84[EUR][1000 genomes]
rs11057786	0.80[EUR][1000 genomes]
rs11057797	0.80[EUR][1000 genomes]
rs11057882	0.84[EUR][1000 genomes]
rs11058034	0.85[EUR][1000 genomes]
rs11058226	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11058251	0.85[EUR][1000 genomes]
rs11616082	0.84[EUR][1000 genomes]
rs12423420	0.81[ASN][1000 genomes]
rs12581249	0.80[EUR][1000 genomes]
rs1818050	0.80[EUR][1000 genomes]
rs1973463	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34129612	0.85[EUR][1000 genomes]
rs4758643	0.86[EUR][1000 genomes]
rs4758644	0.84[EUR][1000 genomes]
rs4758645	0.83[EUR][1000 genomes]
rs4758646	0.82[EUR][1000 genomes]
rs4758648	0.81[EUR][1000 genomes]
rs4758662	0.86[EUR][1000 genomes]
rs4758666	0.81[EUR][1000 genomes]
rs6488951	0.82[EUR][1000 genomes]
rs6488958	0.84[EUR][1000 genomes]
rs6489002	0.86[EUR][1000 genomes]
rs7135419	0.86[EUR][1000 genomes]
rs7301515	0.85[EUR][1000 genomes]
rs7316114	0.81[EUR][1000 genomes]
rs7398014	0.87[EUR][1000 genomes]
rs7964138	0.82[EUR][1000 genomes]
rs7969429	0.84[EUR][1000 genomes]
rs7974262	0.86[EUR][1000 genomes]
rs9788145	0.85[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:27 , 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	chr12:122938400-122940200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:122938800-122940400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:122938800-122940800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:122938800-122942000	Weak transcription	GM12878-XiMat	blood
8	chr12:122938800-122942200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:122938800-122943400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
13	chr12:122939000-122940200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:122939000-122940800	Weak transcription	Esophagus	oesophagus
15	chr12:122939000-122942200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:122939000-122947400	Weak transcription	Placenta	Placenta
17	chr12:122939200-122942200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:122939200-122942200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:122939200-122942200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:122939200-122948000	Weak transcription	Hela-S3	cervix
21	chr12:122939400-122941000	Enhancers	HepG2	liver
22	chr12:122939400-122942000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122939600-122940600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:122939600-122943800	Weak transcription	A549	lung
25	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
26	chr12:122939800-122940400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:122939800-122942000	Weak transcription	Primary T cells fromperipheralblood	blood

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