Variant report

Variant	rs12319084
Chromosome Location	chr12:42603486-42603487
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	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11181342	0.88[AFR][1000 genomes]
rs11181372	1.00[AFR][1000 genomes]
rs11181374	1.00[AFR][1000 genomes]
rs11181376	1.00[AFR][1000 genomes]
rs11181377	1.00[AFR][1000 genomes]
rs11181392	1.00[AFR][1000 genomes]
rs11181394	1.00[AFR][1000 genomes]
rs12297162	1.00[AFR][1000 genomes]
rs12297435	0.82[AFR][1000 genomes]
rs12299193	1.00[AFR][1000 genomes]
rs12300368	0.94[AFR][1000 genomes]
rs12300611	1.00[AFR][1000 genomes]
rs12300698	1.00[AFR][1000 genomes]
rs12301505	1.00[AFR][1000 genomes]
rs12305400	1.00[AFR][1000 genomes]
rs12307866	1.00[AFR][1000 genomes]
rs12308598	1.00[AFR][1000 genomes]
rs12308904	1.00[AFR][1000 genomes]
rs12309515	1.00[AFR][1000 genomes]
rs12312690	1.00[AFR][1000 genomes]
rs12313448	1.00[AFR][1000 genomes]
rs12313668	0.88[AFR][1000 genomes]
rs12314028	1.00[AFR][1000 genomes]
rs12321515	1.00[AFR][1000 genomes]
rs12322392	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:105 , 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	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
13	chr12:42568400-42623400	Weak transcription	K562	blood
14	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
15	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
17	chr12:42569800-42631000	Weak transcription	Gastric	stomach
18	chr12:42574800-42615600	Weak transcription	HUVEC	blood vessel
19	chr12:42575600-42607800	Weak transcription	Brain Angular Gyrus	brain
20	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:42575800-42607800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:42575800-42607800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:42576600-42607800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:42578000-42606400	Weak transcription	Fetal Heart	heart
25	chr12:42578800-42603600	Weak transcription	Brain Germinal Matrix	brain
26	chr12:42579200-42606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:42581800-42607800	Weak transcription	Ovary	ovary
28	chr12:42583800-42606800	Weak transcription	HSMM	muscle
29	chr12:42585200-42608000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:42585600-42604600	Weak transcription	Fetal Brain Male	brain
31	chr12:42586400-42603800	Weak transcription	NH-A	brain
32	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
33	chr12:42587200-42607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:42587200-42629600	Weak transcription	Lung	lung
35	chr12:42587400-42620000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:42587600-42606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:42587800-42619400	Weak transcription	Fetal Lung	lung
38	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:42588200-42607800	Weak transcription	Aorta	Aorta
40	chr12:42588400-42606000	Weak transcription	Fetal Stomach	stomach
41	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
42	chr12:42590200-42610400	Weak transcription	HSMMtube	muscle
43	chr12:42591200-42604200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:42591400-42606800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:42591400-42607000	Weak transcription	Psoas Muscle	Psoas
46	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:42591400-42607800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:42591600-42628200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:42592800-42603800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:42592800-42607400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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