Variant report

Variant	rs4516034
Chromosome Location	chr12:50965024-50965025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
2	chr12:50964335..50965159-chrX:69573710..69574411,2	MCF-7	breast:
3	chr12:50964684..50966420-chr12:50974065..50976382,2	MCF-7	breast:
4	chr12:50959640..50961996-chr12:50963303..50966253,2	MCF-7	breast:
5	chr12:50963836..50966336-chr12:51007234..51009900,2	MCF-7	breast:

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10431486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431535	0.88[EUR][1000 genomes]
rs10444547	0.91[EUR][1000 genomes];0.82[ASN][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	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747587	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];0.92[ASN][1000 genomes]
rs10783371	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783373	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783374	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783375	0.87[EUR][1000 genomes]
rs10783378	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.88[ASN][1000 genomes]
rs10876043	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876047	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876051	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876052	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876056	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876063	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.97[ASN][1000 genomes]
rs10876067	0.82[ASN][1000 genomes]
rs10876068	0.80[ASN][1000 genomes]
rs10876070	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876071	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876072	0.92[EUR][1000 genomes];0.82[ASN][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];0.82[ASN][1000 genomes]
rs11169479	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169481	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169483	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169498	0.92[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];0.83[ASN][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];0.97[ASN][1000 genomes]
rs11615933	0.85[EUR][1000 genomes]
rs12230242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809086	0.85[EUR][1000 genomes]
rs12827022	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935138	0.87[EUR][1000 genomes]
rs3935869	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4238106	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4238108	0.85[EUR][1000 genomes]
rs4617661	0.82[EUR][1000 genomes]
rs4768847	0.82[EUR][1000 genomes]
rs4768850	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768852	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768853	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.87[ASN][1000 genomes]
rs4768888	0.92[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];0.96[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];0.99[ASN][1000 genomes]
rs4768893	1.00[EUR][1000 genomes]
rs4768895	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768899	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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];0.94[ASN][1000 genomes]
rs55877451	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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];0.83[ASN][1000 genomes]
rs7138604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307419	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7316864	0.87[EUR][1000 genomes]
rs7397999	0.87[EUR][1000 genomes]
rs7956591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50945200-50965200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:50948400-50966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50953400-50965600	Weak transcription	Primary B cells from cord blood	blood
5	chr12:50953800-50966000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:50957200-50965600	Weak transcription	Psoas Muscle	Psoas
7	chr12:50957600-50969200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:50958800-50966000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:50959400-50966200	Weak transcription	K562	blood
11	chr12:50959800-50969800	Enhancers	Liver	Liver
12	chr12:50961600-50969400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:50961800-50967000	Weak transcription	Thymus	Thymus
14	chr12:50961800-50969600	Enhancers	Adipose Nuclei	Adipose
15	chr12:50961800-50971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:50962000-50966600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:50962000-50968400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:50962200-50965800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:50962200-50966600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:50962200-50966600	Weak transcription	Right Ventricle	heart
21	chr12:50962200-50968200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:50962200-50968200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:50962200-50968200	Weak transcription	Esophagus	oesophagus
24	chr12:50962200-50969200	Weak transcription	Lung	lung
25	chr12:50962400-50965600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:50962400-50965600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:50962400-50965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:50962400-50965600	Weak transcription	GM12878-XiMat	blood
29	chr12:50962400-50965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:50962400-50966200	Weak transcription	Fetal Intestine Small	intestine
31	chr12:50962400-50966200	Weak transcription	Spleen	Spleen
32	chr12:50962400-50966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:50962400-50966600	Weak transcription	Aorta	Aorta
34	chr12:50962400-50966600	Weak transcription	Fetal Brain Male	brain
35	chr12:50962400-50966600	Weak transcription	Gastric	stomach
36	chr12:50962400-50966600	Weak transcription	Left Ventricle	heart
37	chr12:50962400-50966600	Weak transcription	Pancreas	Pancrea
38	chr12:50962400-50966800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:50962400-50968200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:50962600-50965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:50962600-50965600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:50962800-50965600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:50962800-50966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:50963200-50965600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:50963200-50965600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:50963200-50966200	Weak transcription	Fetal Brain Female	brain
49	chr12:50963200-50966600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:50963200-50966600	Weak transcription	Rectal Mucosa Donor 29	rectum

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