Variant report

Variant	rs7307183
Chromosome Location	chr12:50001719-50001720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49980942..49982685-chr12:50000990..50002684,2	K562	blood:
2	chr12:49993467..49995690-chr12:50000847..50003243,2	K562	blood:
3	chr12:49999888..50002057-chr12:50015831..50018818,2	K562	blood:
4	chr12:49992944..49996318-chr12:50001490..50005343,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135436	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11831877	0.94[AFR][1000 genomes]
rs11832727	1.00[AFR][1000 genomes]
rs11837399	1.00[AFR][1000 genomes]
rs11837408	1.00[AFR][1000 genomes]
rs11837637	0.97[AFR][1000 genomes]
rs3861577	0.81[AFR][1000 genomes]
rs57489906	0.81[AFR][1000 genomes]
rs58072420	0.94[AFR][1000 genomes]
rs59576871	0.91[AFR][1000 genomes]
rs59597892	1.00[AFR][1000 genomes]
rs59957222	0.86[AFR][1000 genomes]
rs60117004	0.94[AFR][1000 genomes]
rs7131756	0.94[AFR][1000 genomes]
rs7134329	1.00[AFR][1000 genomes]
rs7310069	0.81[AFR][1000 genomes]
rs7312037	0.94[AFR][1000 genomes]
rs7313183	0.94[AFR][1000 genomes]
rs7313590	0.94[AFR][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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
2	chr12:49979600-50002600	Weak transcription	HepG2	liver
3	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
4	chr12:49983200-50002800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:49983400-50002800	Weak transcription	NHEK	skin
6	chr12:49985200-50003000	Weak transcription	Lung	lung
7	chr12:49992800-50003200	Weak transcription	Fetal Intestine Large	intestine
8	chr12:49994000-50002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:49994400-50002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:49994400-50003200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:49994400-50004400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:49994600-50003200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:49994600-50005800	Weak transcription	Liver	Liver
14	chr12:49995000-50002600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:49995000-50003000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:49995200-50002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:49995400-50002800	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:49996800-50005400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:49999200-50002800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:49999400-50003000	Weak transcription	Fetal Stomach	stomach
21	chr12:49999400-50003200	Weak transcription	Placenta	Placenta
22	chr12:50000400-50007400	Weak transcription	Fetal Heart	heart
23	chr12:50001200-50002200	Weak transcription	Adipose Nuclei	Adipose
24	chr12:50001400-50002400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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