Variant report

Variant	rs824735
Chromosome Location	chr12:42537384-42537385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42536520..42538445-chr12:42636169..42638853,2	MCF-7	breast:
2	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
3	chr12:42537136..42539433-chr12:42719521..42721782,2	K562	blood:
4	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
5	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
6	chr12:42531594..42533278-chr12:42535914..42538108,2	K562	blood:
7	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
8	chr12:42526307..42529075-chr12:42536491..42538067,2	K562	blood:
9	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
10	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
11	chr12:42536329..42538308-chr12:42715319..42718014,2	K562	blood:
12	chr12:42526307..42530299-chr12:42534078..42537991,4	K562	blood:
13	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

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]
rs11833381	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]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73270269	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]
rs824731	1.00[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]
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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42512000-42537400	Weak transcription	Ovary	ovary
2	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
3	chr12:42532000-42537400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:42533800-42537800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:42534600-42538800	Active TSS	GM12878-XiMat	blood
6	chr12:42535800-42537400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:42535800-42537400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:42536200-42537400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:42536400-42537600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:42536400-42537600	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:42536400-42537600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:42536600-42537400	Flanking Active TSS	HMEC	breast
13	chr12:42536800-42537400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:42536800-42537400	Flanking Active TSS	HepG2	liver
15	chr12:42536800-42537600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:42536800-42537600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:42536800-42539000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:42536800-42539400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:42537000-42537400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:42537000-42537400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:42537000-42537400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:42537000-42537400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:42537000-42537400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:42537000-42537400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:42537000-42537400	Enhancers	Colon Smooth Muscle	Colon
26	chr12:42537000-42537400	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr12:42537000-42537400	Enhancers	Pancreas	Pancrea
28	chr12:42537000-42537400	Flanking Active TSS	HSMM	muscle
29	chr12:42537000-42537400	Flanking Active TSS	NHDF-Ad	bronchial
30	chr12:42537000-42537400	Flanking Active TSS	NHEK	skin
31	chr12:42537000-42537600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr12:42537000-42537600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:42537000-42537600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr12:42537000-42537600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr12:42537000-42537600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:42537000-42537600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:42537000-42537600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:42537000-42537600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:42537000-42537600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:42537000-42537600	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr12:42537000-42537600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr12:42537000-42537600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:42537000-42537600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:42537000-42537600	Flanking Active TSS	Fetal Brain Male	brain
45	chr12:42537000-42537600	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr12:42537000-42537600	Flanking Active TSS	Fetal Kidney	kidney
47	chr12:42537000-42537600	Flanking Active TSS	Fetal Lung	lung
48	chr12:42537000-42537600	Enhancers	Gastric	stomach
49	chr12:42537000-42537600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:42537000-42537600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon

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