Variant report

Variant	rs11169487
Chromosome Location	chr12:50937105-50937106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50934973..50937892-chr12:50960114..50962930,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10431486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431535	0.88[EUR][1000 genomes]
rs10444547	0.91[EUR][1000 genomes]
rs10459233	0.97[EUR][1000 genomes]
rs10459234	0.82[EUR][1000 genomes]
rs10459235	0.85[EUR][1000 genomes]
rs10506294	0.85[EUR][1000 genomes]
rs10506295	0.84[EUR][1000 genomes]
rs10747584	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10747585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10747587	0.85[EUR][1000 genomes]
rs10783369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783372	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783373	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783374	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783375	0.87[EUR][1000 genomes]
rs10783378	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783381	0.92[EUR][1000 genomes]
rs10783382	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];0.94[ASN][1000 genomes]
rs10876043	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876051	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876052	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876056	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876063	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876064	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876070	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10876071	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10876072	0.92[EUR][1000 genomes]
rs10876073	0.91[EUR][1000 genomes]
rs10876075	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10876076	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169457	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169479	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169481	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169483	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169498	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169505	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169507	0.92[EUR][1000 genomes]
rs11169515	0.87[EUR][1000 genomes]
rs11169528	0.85[EUR][1000 genomes]
rs11169532	0.84[EUR][1000 genomes]
rs11169537	0.84[EUR][1000 genomes]
rs11169538	0.81[EUR][1000 genomes]
rs11169539	0.81[EUR][1000 genomes]
rs11613488	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12231309	0.89[EUR][1000 genomes]
rs12231317	0.89[EUR][1000 genomes]
rs12580051	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12582712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12809086	0.85[EUR][1000 genomes]
rs12827022	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124930	0.84[EUR][1000 genomes]
rs34867510	0.96[EUR][1000 genomes]
rs35845404	0.81[EUR][1000 genomes]
rs3742063	0.81[EUR][1000 genomes]
rs3742064	0.81[EUR][1000 genomes]
rs3825402	0.81[EUR][1000 genomes]
rs3893353	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3935138	0.87[EUR][1000 genomes]
rs3935869	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4131769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4238106	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4238108	0.85[EUR][1000 genomes]
rs4516034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.82[EUR][1000 genomes]
rs4768850	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768852	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768853	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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];0.93[ASN][1000 genomes]
rs4768888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768890	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768892	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768893	1.00[EUR][1000 genomes]
rs4768895	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768899	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4768906	0.85[EUR][1000 genomes]
rs4768907	0.84[EUR][1000 genomes]
rs4768911	0.81[EUR][1000 genomes]
rs4768912	0.84[EUR][1000 genomes]
rs4768913	0.84[EUR][1000 genomes]
rs4768914	0.80[EUR][1000 genomes]
rs55680342	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55877451	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61926275	0.85[EUR][1000 genomes]
rs6580756	0.81[EUR][1000 genomes]
rs67092086	0.87[EUR][1000 genomes]
rs7134976	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7138604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7307419	0.92[EUR][1000 genomes]
rs7316864	0.87[EUR][1000 genomes]
rs7397999	0.87[EUR][1000 genomes]
rs7956591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs876078	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs876079	0.89[EUR][1000 genomes]
rs952318	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
4	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
5	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
6	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
10	chr12:50923400-50939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:50923600-50939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:50926600-50939200	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
14	chr12:50927400-50938600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:50927400-50939200	Weak transcription	Psoas Muscle	Psoas
16	chr12:50927400-50939600	Weak transcription	Thymus	Thymus
17	chr12:50927400-50939800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:50927400-50944400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:50927400-50948800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:50927400-50951000	Weak transcription	Dnd41	blood
21	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:50927600-50941600	Weak transcription	Pancreas	Pancrea
23	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
25	chr12:50927800-50947600	Weak transcription	Fetal Thymus	thymus
26	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:50929000-50939600	Weak transcription	Ovary	ovary
28	chr12:50929200-50939600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:50929200-50943800	Weak transcription	Placenta	Placenta
30	chr12:50930600-50948600	Weak transcription	Left Ventricle	heart
31	chr12:50931600-50939600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:50932000-50937200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:50932000-50945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:50932200-50938800	Weak transcription	K562	blood
37	chr12:50932200-50939200	Weak transcription	Small Intestine	intestine
38	chr12:50932200-50939400	Weak transcription	Osteobl	bone
39	chr12:50932200-50939800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:50932200-50948400	Weak transcription	Primary T cells from cord blood	blood
41	chr12:50932200-50948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
43	chr12:50932400-50939800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:50932400-50941600	Weak transcription	Colonic Mucosa	Colon
45	chr12:50932400-50944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:50932600-50937600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:50932800-50939800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:50932800-50947600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:50932800-50948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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