Variant report

Variant	rs9804749
Chromosome Location	chr12:50094314-50094315
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	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:
2	chr12:50093739..50096760-chr12:50100388..50102925,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1049986	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875964	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169065	0.82[EUR][1000 genomes]
rs11169069	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169070	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169073	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169076	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169081	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169118	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169127	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169133	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.87[AMR][1000 genomes]
rs11615488	0.92[ASN][1000 genomes]
rs11833411	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12308256	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310510	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314795	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317646	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320556	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12321819	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13906	0.83[ASN][1000 genomes]
rs1470906	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1902329	0.81[EUR][1000 genomes]
rs2005195	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278068	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278069	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	0.80[ASN][1000 genomes]
rs2336058	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.83[AMR][1000 genomes]
rs3815832	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3887728	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4045193	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4133070	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs52824916	0.80[ASN][1000 genomes]
rs55853522	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57191490	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57342147	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463238	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.80[ASN][1000 genomes]
rs58278271	0.86[ASN][1000 genomes]
rs58446833	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59233136	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59940006	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60121503	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61616163	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136052	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137976	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305085	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305098	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306808	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953911	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954994	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956089	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.89[ASN][1000 genomes]
rs7965658	0.81[ASN][1000 genomes]
rs7967624	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970241	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7973389	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975599	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977389	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979262	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876889	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804971	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50079000-50096200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:50091200-50096400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:50093000-50096400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:50093200-50095600	Weak transcription	Stomach Mucosa	stomach
5	chr12:50093200-50095800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:50093200-50096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:50093200-50096400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:50093200-50096400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50093200-50096600	Weak transcription	Ovary	ovary
10	chr12:50093200-50096800	Weak transcription	Small Intestine	intestine
11	chr12:50093200-50097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:50093200-50098200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:50093200-50098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50093200-50098800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:50093200-50099200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:50093200-50099600	Weak transcription	Fetal Heart	heart
17	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
18	chr12:50093400-50094600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:50093400-50094800	Enhancers	Dnd41	blood
20	chr12:50093400-50095200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:50093400-50095400	Weak transcription	Lung	lung
22	chr12:50093400-50095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:50093400-50095600	Weak transcription	Placenta	Placenta
24	chr12:50093400-50095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:50093400-50095800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50093400-50095800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:50093400-50095800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:50093400-50095800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:50093400-50095800	Weak transcription	Fetal Lung	lung
30	chr12:50093400-50095800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:50093400-50095800	Weak transcription	Fetal Thymus	thymus
32	chr12:50093400-50095800	Weak transcription	Left Ventricle	heart
33	chr12:50093400-50095800	Weak transcription	Spleen	Spleen
34	chr12:50093400-50096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:50093400-50096400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:50093400-50096400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:50093400-50096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:50093400-50096400	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:50093400-50096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:50093400-50096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:50093400-50096400	Weak transcription	NHDF-Ad	bronchial
42	chr12:50093400-50096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:50093400-50096600	Weak transcription	Psoas Muscle	Psoas
44	chr12:50093400-50096600	Weak transcription	Right Atrium	heart
45	chr12:50093400-50096600	Weak transcription	Thymus	Thymus
46	chr12:50093400-50096800	Weak transcription	HMEC	breast
47	chr12:50093400-50097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:50093400-50097000	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:50093400-50097000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:50093400-50097000	Weak transcription	K562	blood

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