Variant report

Variant	rs10744211
Chromosome Location	chr12:122931820-122931821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122914575..122917314-chr12:122929160..122931843,2	MCF-7	breast:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:
3	chr12:122929603..122932468-chr12:122945246..122946778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10161534	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10734915	0.91[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10734918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734924	0.88[JPT][hapmap]
rs10744192	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744210	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744217	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10744220	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10744287	0.88[JPT][hapmap]
rs10773075	0.94[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs10773088	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773103	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10773104	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10773152	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10773167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773172	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10773176	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10773178	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10773208	0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773394	0.88[JPT][hapmap]
rs10846664	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10846688	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs10846699	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846746	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846764	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846792	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846826	0.90[AMR][1000 genomes]
rs10846830	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846835	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10846920	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846921	0.94[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846931	0.85[EUR][1000 genomes]
rs10846978	0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs10847179	0.88[JPT][hapmap]
rs10847242	0.88[JPT][hapmap]
rs10998	0.86[JPT][hapmap]
rs11057786	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11057797	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057882	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11058034	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11058204	0.80[AMR][1000 genomes]
rs11058209	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058226	0.94[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058233	0.86[EUR][1000 genomes]
rs11058251	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11058282	0.82[EUR][1000 genomes]
rs11058402	0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11616082	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11836188	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12369858	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs12372756	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12423420	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12425970	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581249	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473553	0.88[JPT][hapmap];0.80[EUR][1000 genomes]
rs1553179	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1803290	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1818050	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1973463	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062488	0.89[CEU][hapmap]
rs2173582	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2341439	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28730465	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34129612	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817011	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4039670	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4319547	0.88[JPT][hapmap]
rs4758643	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758644	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758645	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4758646	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4758648	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758662	0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758666	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4997380	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs55834409	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488933	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6488939	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488951	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488958	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489156	0.88[JPT][hapmap]
rs6489157	0.88[JPT][hapmap]
rs7135419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294559	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301515	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs7307735	0.88[JPT][hapmap]
rs7314638	0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7316114	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7397299	0.84[EUR][1000 genomes]
rs7397990	0.88[JPT][hapmap]
rs7398014	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7952868	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7953007	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7956480	0.94[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7959238	0.88[JPT][hapmap]
rs7964138	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969429	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7973869	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7974262	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975747	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs9705654	0.88[JPT][hapmap]
rs9788145	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988963	0.88[JPT][hapmap]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931000-122932000	Enhancers	K562	blood
3	chr12:122931200-122932000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:122931200-122932200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:122931200-122932400	Enhancers	HSMM	muscle
6	chr12:122931400-122932400	Enhancers	Hela-S3	cervix
7	chr12:122931400-122933000	Weak transcription	Placenta	Placenta
8	chr12:122931400-122933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:122931400-122938200	Weak transcription	HepG2	liver
10	chr12:122931600-122932000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:122931600-122932000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:122931600-122932000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:122931600-122932000	Enhancers	Osteobl	bone
14	chr12:122931800-122932000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:122931800-122932000	Enhancers	HMEC	breast
16	chr12:122931800-122933600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:122931800-122933800	Weak transcription	A549	lung
18	chr12:122931800-122934000	Weak transcription	NHLF	lung
19	chr12:122931800-122934200	Weak transcription	NHEK	skin
20	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum

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