Variant report

Variant	rs12963615
Chromosome Location	chr18:43641707-43641708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43631604..43634976-chr18:43639801..43643194,4	K562	blood:
2	chr18:43640422..43642180-chr18:43647918..43649817,3	K562	blood:
3	chr18:43640313..43643242-chr18:43650888..43653303,2	K562	blood:
4	chr18:43641479..43644976-chr18:43650874..43653510,3	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11659478	0.83[ASN][1000 genomes]
rs12955201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12959752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961167	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34003734	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359798	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359800	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8085444	0.96[ASN][1000 genomes]
rs9783888	0.92[ASN][1000 genomes]
rs9807399	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9944637	0.96[ASN][1000 genomes]
rs9947908	0.96[ASN][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43632400-43642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:43632400-43642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
5	chr18:43632600-43641800	Weak transcription	NHEK	skin
6	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
7	chr18:43633400-43650200	Weak transcription	NHLF	lung
8	chr18:43633800-43647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:43636200-43644000	Weak transcription	Osteobl	bone
10	chr18:43636400-43643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:43636400-43644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:43636400-43647000	Weak transcription	Liver	Liver
13	chr18:43636400-43649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr18:43636400-43650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:43636600-43642000	Weak transcription	GM12878-XiMat	blood
16	chr18:43636600-43642400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr18:43636600-43649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:43637000-43650000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:43639600-43642400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:43640200-43642200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr18:43640400-43642400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:43640400-43642600	Enhancers	Spleen	Spleen
23	chr18:43640400-43644200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr18:43640800-43642000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:43640800-43642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:43640800-43650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:43641000-43648800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr18:43641000-43650000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:43641000-43650800	Weak transcription	Fetal Intestine Small	intestine
30	chr18:43641400-43642000	Enhancers	Stomach Mucosa	stomach
31	chr18:43641400-43642200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:43641400-43642200	Enhancers	Gastric	stomach
33	chr18:43641400-43643400	Enhancers	Placenta	Placenta
34	chr18:43641400-43644000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr18:43641400-43644800	Enhancers	HMEC	breast
36	chr18:43641400-43648800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr18:43641600-43641800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr18:43641600-43642800	Enhancers	K562	blood
39	chr18:43641600-43644400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:43641600-43649000	Weak transcription	Left Ventricle	heart

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