Variant report

Variant	rs10846912
Chromosome Location	chr12:122939450-122939451
allele	C/T
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: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10161184	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs10161488	0.86[EUR][1000 genomes]
rs10744218	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10744242	1.00[JPT][hapmap]
rs10773090	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs10773108	0.84[EUR][1000 genomes]
rs10773117	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs10773162	0.92[EUR][1000 genomes]
rs10773172	0.87[AFR][1000 genomes]
rs10773230	1.00[JPT][hapmap]
rs10846714	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs10846852	0.92[EUR][1000 genomes]
rs10846899	0.85[ASN][1000 genomes]
rs10846968	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11057522	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs11057813	0.83[EUR][1000 genomes]
rs11057819	0.83[EUR][1000 genomes]
rs11058178	0.81[ASN][1000 genomes]
rs11058226	0.84[YRI][hapmap];0.87[AFR][1000 genomes]
rs11058272	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11058562	0.94[JPT][hapmap]
rs1129167	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs11503023	0.84[EUR][1000 genomes]
rs11610303	1.00[JPT][hapmap]
rs11830957	0.92[EUR][1000 genomes]
rs12314537	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812332	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12817342	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs12818177	0.84[EUR][1000 genomes]
rs12829449	0.91[EUR][1000 genomes]
rs1392142	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1532578	0.85[JPT][hapmap]
rs1532579	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs1553178	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs2341438	0.92[EUR][1000 genomes]
rs3825096	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs4356269	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4758657	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4758658	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4758660	1.00[JPT][hapmap]
rs4758664	0.90[EUR][1000 genomes]
rs4758692	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4758693	0.82[EUR][1000 genomes]
rs4758695	1.00[CHB][hapmap]
rs6416295	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6488947	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6489014	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6489051	1.00[JPT][hapmap]
rs6489056	1.00[JPT][hapmap]
rs7132830	0.84[ASN][1000 genomes]
rs7134381	1.00[JPT][hapmap]
rs7296680	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs7298839	0.95[JPT][hapmap]
rs7303688	0.81[ASN][1000 genomes]
rs7305360	0.89[EUR][1000 genomes]
rs7311573	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7313121	0.80[EUR][1000 genomes]
rs7313284	0.83[CEU][hapmap]
rs7955513	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7959550	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs7961258	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7964981	0.93[EUR][1000 genomes]
rs7970007	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7972832	0.90[EUR][1000 genomes]
rs7973480	0.90[EUR][1000 genomes]
rs7974160	0.81[CEU][hapmap]
rs7975492	0.81[CEU][hapmap];0.94[CHB][hapmap]
rs7978119	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs868181	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs9788228	0.85[CEU][hapmap];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:29 , 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	chr12:122936600-122939800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:122937200-122939600	Enhancers	Fetal Thymus	thymus
6	chr12:122937400-122939800	Enhancers	Duodenum Mucosa	Duodenum
7	chr12:122938400-122940200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:122938600-122939600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:122938600-122939600	Enhancers	A549	lung
10	chr12:122938800-122939600	Weak transcription	Small Intestine	intestine
11	chr12:122938800-122940400	Weak transcription	Fetal Intestine Large	intestine
12	chr12:122938800-122940800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:122938800-122942000	Weak transcription	GM12878-XiMat	blood
14	chr12:122938800-122942200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:122938800-122943400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
19	chr12:122939000-122939600	Weak transcription	Spleen	Spleen
20	chr12:122939000-122940200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:122939000-122940800	Weak transcription	Esophagus	oesophagus
22	chr12:122939000-122942200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:122939000-122947400	Weak transcription	Placenta	Placenta
24	chr12:122939200-122942200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:122939200-122942200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:122939200-122942200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:122939200-122948000	Weak transcription	Hela-S3	cervix
28	chr12:122939400-122941000	Enhancers	HepG2	liver
29	chr12:122939400-122942000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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