Variant report

Variant	rs7956591
Chromosome Location	chr12:50948886-50948887
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50947177..50949740-chr17:57920618..57922816,2	MCF-7	breast:
2	chr12:50948499..50950319-chr12:50987447..50990082,2	K562	blood:
3	chr12:50947257..50949279-chr12:50958735..50961611,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1003033	1.00[CEU][hapmap]
rs10431486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431535	0.88[EUR][1000 genomes]
rs10444547	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459233	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10459234	0.82[EUR][1000 genomes]
rs10459235	0.85[EUR][1000 genomes]
rs10506294	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs10506295	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs10747584	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747587	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs10783369	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783373	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]
rs10783374	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783375	0.87[EUR][1000 genomes]
rs10783378	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783381	0.92[EUR][1000 genomes]
rs10783382	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10783383	0.85[EUR][1000 genomes]
rs10783384	0.84[EUR][1000 genomes]
rs10876042	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876043	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876047	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876060	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876061	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876063	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876064	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876067	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.82[ASN][1000 genomes]
rs10876070	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876073	0.91[EUR][1000 genomes]
rs10876075	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876076	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169457	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169479	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169483	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169498	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169505	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169507	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs11169515	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs11169528	0.85[EUR][1000 genomes]
rs11169532	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11169537	0.84[EUR][1000 genomes]
rs11169538	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11169539	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11612002	0.82[CEU][hapmap]
rs11613488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12231309	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes]
rs12231317	0.89[EUR][1000 genomes]
rs12580051	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12582712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12809086	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs12827022	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124930	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2684908	0.88[CEU][hapmap]
rs34867510	0.96[EUR][1000 genomes]
rs35845404	0.81[EUR][1000 genomes]
rs3742063	0.81[EUR][1000 genomes]
rs3742064	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs3825402	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs3893353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3935138	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs3935869	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238108	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs4516034	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.82[EUR][1000 genomes]
rs4768850	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768852	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768858	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768884	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768890	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768892	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768893	0.82[CHB][hapmap];1.00[EUR][1000 genomes]
rs4768895	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768899	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768903	0.80[CHB][hapmap]
rs4768906	0.85[EUR][1000 genomes]
rs4768907	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4768911	0.81[EUR][1000 genomes]
rs4768912	0.84[EUR][1000 genomes]
rs4768913	0.84[EUR][1000 genomes]
rs4768914	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs4768975	1.00[CEU][hapmap]
rs55680342	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55877451	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61926275	0.85[EUR][1000 genomes]
rs6580756	0.81[EUR][1000 genomes]
rs6580761	0.88[CEU][hapmap]
rs67092086	0.87[EUR][1000 genomes]
rs7134976	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7138604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305375	1.00[CEU][hapmap]
rs7307419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7316864	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs7397999	0.87[EUR][1000 genomes]
rs876078	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs876079	0.89[EUR][1000 genomes]
rs876080	0.88[CEU][hapmap]
rs952318	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs9788159	0.89[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50951000	Weak transcription	Dnd41	blood
4	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
7	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
11	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
15	chr12:50940000-50951000	Weak transcription	NHLF	lung
16	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
17	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:50940600-50949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:50940800-50957000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:50941000-50949000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:50941000-50949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:50941000-50949400	Weak transcription	Hela-S3	cervix
28	chr12:50941000-50951000	Weak transcription	Osteobl	bone
29	chr12:50941000-50957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
32	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
33	chr12:50941200-50949200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:50941200-50949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:50941800-50949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:50941800-50957000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:50943800-50956200	Weak transcription	Colonic Mucosa	Colon
38	chr12:50944400-50962000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:50944600-50949000	Weak transcription	A549	lung
40	chr12:50944600-50961800	Weak transcription	Small Intestine	intestine
41	chr12:50944800-50950800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:50944800-50953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:50944800-50956200	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:50944800-50956600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:50944800-50961800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:50945200-50949000	Weak transcription	Stomach Mucosa	stomach
47	chr12:50945200-50965200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:50945400-50961800	Weak transcription	Esophagus	oesophagus
49	chr12:50945600-50949000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:50945600-50949400	Weak transcription	Placenta	Placenta

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