Variant report

Variant	rs7301125
Chromosome Location	chr12:50966778-50966779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50897439..50899483-chr12:50966569..50968564,3	MCF-7	breast:
2	chr12:50965666..50967563-chr12:50973040..50975436,2	K562	blood:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10506293	0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs10506296	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10735826	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10783366	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs10783367	0.90[ASN][1000 genomes]
rs10783368	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876041	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10876044	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10876048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876054	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876082	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10876083	0.90[EUR][1000 genomes]
rs10876085	0.82[EUR][1000 genomes]
rs10876088	0.90[EUR][1000 genomes]
rs10876091	0.82[EUR][1000 genomes]
rs11169422	0.85[EUR][1000 genomes]
rs11169551	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs11169553	0.90[EUR][1000 genomes]
rs11169556	0.82[EUR][1000 genomes]
rs11614911	0.92[ASN][1000 genomes]
rs12099511	0.85[EUR][1000 genomes]
rs12099615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12296379	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12307602	0.85[EUR][1000 genomes]
rs12320201	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817256	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13328926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1402693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1521515	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1521517	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119774	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs17124672	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17124888	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17124907	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs17531020	1.00[CEU][hapmap]
rs1815010	0.90[EUR][1000 genomes]
rs1996750	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252595	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684886	0.90[EUR][1000 genomes]
rs2684890	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684891	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684902	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2684906	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28414775	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28479152	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2947617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803181	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs3825401	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4129355	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4143663	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4257057	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4306347	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4450234	0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs4517607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4562889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768848	0.86[ASN][1000 genomes]
rs4768885	0.92[ASN][1000 genomes]
rs4768886	0.92[ASN][1000 genomes]
rs4768887	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768894	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768909	0.82[EUR][1000 genomes]
rs4768915	0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs4768920	0.90[EUR][1000 genomes]
rs56671180	0.85[EUR][1000 genomes]
rs56753963	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56818625	0.86[EUR][1000 genomes]
rs57283487	0.85[EUR][1000 genomes]
rs57293958	0.85[EUR][1000 genomes]
rs57328764	0.86[EUR][1000 genomes]
rs57512759	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57578212	0.85[EUR][1000 genomes]
rs57811009	0.85[EUR][1000 genomes]
rs57828015	0.85[EUR][1000 genomes]
rs58301497	0.86[EUR][1000 genomes]
rs58500867	0.85[EUR][1000 genomes]
rs58869591	0.81[EUR][1000 genomes]
rs58888905	0.85[EUR][1000 genomes]
rs58915267	0.81[EUR][1000 genomes]
rs58916974	0.85[EUR][1000 genomes]
rs58943330	0.95[EUR][1000 genomes]
rs59194948	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59284993	0.86[EUR][1000 genomes]
rs59683461	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59696942	0.85[EUR][1000 genomes]
rs59968707	0.85[EUR][1000 genomes]
rs60010359	0.85[EUR][1000 genomes]
rs60198651	0.85[EUR][1000 genomes]
rs60201334	0.85[EUR][1000 genomes]
rs60239257	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60242613	0.85[EUR][1000 genomes]
rs60396677	0.85[EUR][1000 genomes]
rs60420087	0.85[EUR][1000 genomes]
rs60494920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60743903	0.85[EUR][1000 genomes]
rs60908906	0.95[EUR][1000 genomes]
rs61578731	0.85[EUR][1000 genomes]
rs6580766	0.90[EUR][1000 genomes]
rs6580767	0.90[EUR][1000 genomes]
rs6580768	0.90[EUR][1000 genomes]
rs6580770	0.81[EUR][1000 genomes]
rs7131993	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132443	0.86[EUR][1000 genomes]
rs7135222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302749	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303202	0.90[EUR][1000 genomes]
rs7304262	0.85[EUR][1000 genomes]
rs7304793	0.81[EUR][1000 genomes]
rs7306387	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7310507	0.95[EUR][1000 genomes]
rs7487645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953880	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955176	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7955310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7957060	0.86[ASN][1000 genomes]
rs7974480	1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs7978443	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979184	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979474	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs829125	0.81[EUR][1000 genomes]
rs865490	0.86[EUR][1000 genomes]
rs939631	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs951591	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs9634264	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9738596	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9804759	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:50957600-50969200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:50959800-50969800	Enhancers	Liver	Liver
5	chr12:50961600-50969400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:50961800-50967000	Weak transcription	Thymus	Thymus
7	chr12:50961800-50969600	Enhancers	Adipose Nuclei	Adipose
8	chr12:50961800-50971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:50962000-50968400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:50962200-50968200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:50962200-50968200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:50962200-50968200	Weak transcription	Esophagus	oesophagus
13	chr12:50962200-50969200	Weak transcription	Lung	lung
14	chr12:50962400-50966800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:50962400-50968200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:50963400-50967000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:50963400-50968000	Weak transcription	Small Intestine	intestine
20	chr12:50963400-50968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:50963400-50968200	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:50963400-50969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:50964000-50968200	Weak transcription	NH-A	brain
24	chr12:50964200-50970400	Enhancers	Placenta	Placenta
25	chr12:50965200-50968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:50965400-50968400	Enhancers	Fetal Lung	lung
27	chr12:50965600-50967000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:50965600-50967000	Enhancers	NHDF-Ad	bronchial
29	chr12:50965600-50967200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:50965600-50967200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:50965600-50967200	Enhancers	Fetal Stomach	stomach
32	chr12:50965600-50967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:50965600-50967400	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:50965600-50967400	Enhancers	NHLF	lung
35	chr12:50965600-50967400	Enhancers	Osteobl	bone
36	chr12:50965600-50967600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:50965600-50967600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50965600-50967600	Enhancers	Psoas Muscle	Psoas
39	chr12:50965600-50967800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:50965600-50967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:50965600-50968600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:50965600-50969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:50965600-50969400	Enhancers	HMEC	breast
44	chr12:50965600-50969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:50965600-50969600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:50965600-50969600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:50965600-50969600	Enhancers	Brain Hippocampus Middle	brain
48	chr12:50965600-50969600	Enhancers	GM12878-XiMat	blood
49	chr12:50965600-50969600	Enhancers	NHEK	skin
50	chr12:50965600-50969800	Enhancers	Colon Smooth Muscle	Colon

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