Variant report

Variant	rs73281880
Chromosome Location	chr12:42598081-42598082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42559136..42560641-chr12:42595812..42598581,2	MCF-7	breast:
2	chr12:42597838..42599534-chr12:42630169..42632429,2	MCF-7	breast:
3	chr12:42591218..42593294-chr12:42596615..42598964,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11118	1.00[EUR][1000 genomes]
rs11829542	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11830248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17091023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]
rs850965	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv437751	chr12:42586641-42599122	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
2	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
7	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:42556800-42613200	Weak transcription	HMEC	breast
10	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
14	chr12:42568400-42623400	Weak transcription	K562	blood
15	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
16	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
18	chr12:42569800-42631000	Weak transcription	Gastric	stomach
19	chr12:42571600-42602400	Weak transcription	HepG2	liver
20	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
21	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
22	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
25	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
26	chr12:42578000-42606400	Weak transcription	Fetal Heart	heart
27	chr12:42578800-42603600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:42579200-42606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:42581800-42607800	Weak transcription	Ovary	ovary
30	chr12:42582200-42602000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:42583800-42606800	Weak transcription	HSMM	muscle
32	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:42585600-42604600	Weak transcription	Fetal Brain Male	brain
34	chr12:42586400-42603800	Weak transcription	NH-A	brain
35	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
36	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:42587200-42629600	Weak transcription	Lung	lung
38	chr12:42587400-42620000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:42587600-42606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:42587800-42619400	Weak transcription	Fetal Lung	lung
41	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:42588200-42607800	Weak transcription	Aorta	Aorta
43	chr12:42588400-42606000	Weak transcription	Fetal Stomach	stomach
44	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
45	chr12:42589400-42600800	Weak transcription	Hela-S3	cervix
46	chr12:42589600-42602400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:42589800-42601600	Weak transcription	Fetal Intestine Small	intestine
48	chr12:42590000-42600000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:42590200-42610400	Weak transcription	HSMMtube	muscle
50	chr12:42590400-42603200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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