Variant report

Variant	rs824731
Chromosome Location	chr12:42525873-42525874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42525229..42528058-chr12:42719308..42721748,2	K562	blood:
2	chr12:42524054..42526353-chr12:42526883..42528926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683199	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	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[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824696	0.94[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824729	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824732	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824737	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs844045	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850964	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850965	1.00[AFR][1000 genomes];1.00[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	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
3	chr12:42505800-42537000	Weak transcription	Lung	lung
4	chr12:42512000-42537400	Weak transcription	Ovary	ovary
5	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
6	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:42519000-42537000	Weak transcription	Right Atrium	heart
9	chr12:42519200-42529000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
11	chr12:42519600-42526600	Weak transcription	HepG2	liver
12	chr12:42519600-42528400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:42519600-42537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:42519800-42529000	Weak transcription	GM12878-XiMat	blood
15	chr12:42519800-42536800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:42519800-42537000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:42522600-42537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:42522800-42528400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:42524000-42537200	Weak transcription	Aorta	Aorta
20	chr12:42524600-42537000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:42524800-42534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:42524800-42537000	Weak transcription	Fetal Kidney	kidney
23	chr12:42524800-42537000	Weak transcription	Gastric	stomach
24	chr12:42524800-42537200	Weak transcription	Left Ventricle	heart
25	chr12:42524800-42537200	Weak transcription	Psoas Muscle	Psoas
26	chr12:42525000-42528800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:42525000-42529000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:42525000-42531600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:42525200-42528800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:42525200-42529400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:42525400-42528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:42525400-42528800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:42525400-42528800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:42525400-42535800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:42525600-42528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:42525600-42528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:42525600-42528400	Weak transcription	HMEC	breast
38	chr12:42525600-42528600	Weak transcription	A549	lung
39	chr12:42525600-42528600	Weak transcription	Hela-S3	cervix
40	chr12:42525600-42528600	Weak transcription	NHDF-Ad	bronchial
41	chr12:42525600-42528800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:42525600-42528800	Weak transcription	NH-A	brain
43	chr12:42525600-42528800	Weak transcription	NHLF	lung
44	chr12:42525600-42534800	Weak transcription	HSMM	muscle
45	chr12:42525600-42536800	Weak transcription	HUVEC	blood vessel
46	chr12:42525800-42528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:42525800-42528400	Weak transcription	NHEK	skin
48	chr12:42525800-42528600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:42525800-42528600	Weak transcription	Osteobl	bone
50	chr12:42525800-42528800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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