Variant report

Variant	rs6818323
Chromosome Location	chr4:47446148-47446149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28493220	1.00[AMR][1000 genomes]
rs28525043	1.00[AMR][1000 genomes]
rs55696085	1.00[AMR][1000 genomes]
rs56056018	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58507357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59324835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813547	1.00[AMR][1000 genomes]
rs7684002	1.00[AFR][1000 genomes];1.00[AMR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47441000-47456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
5	chr4:47442800-47451800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:47444000-47453600	Weak transcription	HSMMtube	muscle
8	chr4:47444600-47446400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:47445000-47446200	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:47445000-47446200	Enhancers	Dnd41	blood
11	chr4:47445000-47454800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:47445200-47446800	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:47445200-47453600	Weak transcription	NHDF-Ad	bronchial
14	chr4:47445200-47454600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:47445400-47446600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:47445400-47451400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:47445400-47453600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:47445400-47465000	Weak transcription	Lung	lung
19	chr4:47445600-47446200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:47445600-47446200	Enhancers	GM12878-XiMat	blood
21	chr4:47445600-47447000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:47445600-47447200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:47445600-47451000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:47445600-47452000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:47445600-47453400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:47445600-47453600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:47445600-47454600	Weak transcription	Ovary	ovary
28	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
29	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
31	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
32	chr4:47446000-47446200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:47446000-47446800	Weak transcription	Primary B cells from cord blood	blood
34	chr4:47446000-47447200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus

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