Variant report

Variant	rs10783373
Chromosome Location	chr12:50966980-50966981
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	chr12:50897439..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: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1003033	1.00[CEU][hapmap]
rs10431486	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431535	0.87[EUR][1000 genomes]
rs10444547	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10459233	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10459234	0.81[EUR][1000 genomes]
rs10459235	0.84[EUR][1000 genomes]
rs10506294	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[GIH][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs10506295	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs10747584	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747585	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747587	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10783369	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783370	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783371	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783374	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783375	0.86[EUR][1000 genomes]
rs10783378	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783381	0.91[EUR][1000 genomes]
rs10783382	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes]
rs10783383	0.84[EUR][1000 genomes]
rs10783384	0.83[EUR][1000 genomes]
rs10876042	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876043	0.83[CHD][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876047	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876058	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876060	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876063	0.94[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876064	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10876065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876067	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876068	0.80[ASN][1000 genomes]
rs10876070	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876073	0.89[EUR][1000 genomes]
rs10876075	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10876076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11169457	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169479	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169480	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169483	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169487	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169505	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169507	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11169515	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs11169528	0.84[EUR][1000 genomes]
rs11169532	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11169537	0.83[EUR][1000 genomes]
rs11169538	0.93[CEU][hapmap]
rs11169539	0.89[CEU][hapmap]
rs11169544	0.98[GIH][hapmap];0.86[MKK][hapmap]
rs11169552	0.98[GIH][hapmap];0.82[MKK][hapmap]
rs11612002	0.84[CEU][hapmap]
rs11613488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11615933	0.84[EUR][1000 genomes]
rs12230242	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231309	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs12231317	0.88[EUR][1000 genomes]
rs12580051	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12582712	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809086	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs12827022	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17124930	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs2684908	0.90[CEU][hapmap]
rs34867510	0.95[EUR][1000 genomes]
rs3742064	0.90[CEU][hapmap];0.98[GIH][hapmap];0.85[TSI][hapmap]
rs3825402	0.90[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs3893353	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935138	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs3935869	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4238106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4238108	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs4388959	0.81[CEU][hapmap]
rs4516034	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617661	0.80[EUR][1000 genomes]
rs4768847	0.81[EUR][1000 genomes]
rs4768850	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768852	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768858	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768866	0.98[GIH][hapmap];0.86[MKK][hapmap]
rs4768884	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768890	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768892	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768893	0.84[CHB][hapmap];0.99[EUR][1000 genomes]
rs4768895	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768899	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768903	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs4768906	0.84[EUR][1000 genomes]
rs4768907	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4768911	0.80[EUR][1000 genomes]
rs4768912	0.82[EUR][1000 genomes]
rs4768913	0.82[EUR][1000 genomes]
rs4768914	0.94[CEU][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap]
rs4768975	1.00[CEU][hapmap]
rs55680342	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55877451	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926275	0.84[EUR][1000 genomes]
rs6580756	0.80[EUR][1000 genomes]
rs6580761	0.90[CEU][hapmap]
rs67092086	0.86[EUR][1000 genomes]
rs7134976	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7138604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305375	1.00[CEU][hapmap]
rs7307419	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7316864	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7397999	0.86[EUR][1000 genomes]
rs7956591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs876078	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs876079	0.88[EUR][1000 genomes]
rs876080	0.90[CEU][hapmap]
rs952318	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs9788159	0.88[EUR][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:118 , 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	chr12:50962400-50968200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:50963400-50967000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:50963400-50968000	Weak transcription	Small Intestine	intestine
19	chr12:50963400-50968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:50963400-50968200	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:50963400-50969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:50964000-50968200	Weak transcription	NH-A	brain
23	chr12:50964200-50970400	Enhancers	Placenta	Placenta
24	chr12:50965200-50968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:50965400-50968400	Enhancers	Fetal Lung	lung
26	chr12:50965600-50967000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:50965600-50967000	Enhancers	NHDF-Ad	bronchial
28	chr12:50965600-50967200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:50965600-50967200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:50965600-50967200	Enhancers	Fetal Stomach	stomach
31	chr12:50965600-50967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50965600-50967400	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:50965600-50967400	Enhancers	NHLF	lung
34	chr12:50965600-50967400	Enhancers	Osteobl	bone
35	chr12:50965600-50967600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:50965600-50967600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:50965600-50967600	Enhancers	Psoas Muscle	Psoas
38	chr12:50965600-50967800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:50965600-50967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:50965600-50968600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:50965600-50969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:50965600-50969400	Enhancers	HMEC	breast
43	chr12:50965600-50969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:50965600-50969600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:50965600-50969600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:50965600-50969600	Enhancers	Brain Hippocampus Middle	brain
47	chr12:50965600-50969600	Enhancers	GM12878-XiMat	blood
48	chr12:50965600-50969600	Enhancers	NHEK	skin
49	chr12:50965600-50969800	Enhancers	Colon Smooth Muscle	Colon
50	chr12:50965600-50969800	Enhancers	Fetal Muscle Leg	muscle

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