Variant report

Variant	rs6893689
Chromosome Location	chr5:43680691-43680692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16873430	1.00[YRI][hapmap]
rs16873433	1.00[YRI][hapmap]
rs16873452	0.91[AFR][1000 genomes]
rs16873474	0.95[AFR][1000 genomes]
rs16873475	0.95[AFR][1000 genomes]
rs34571724	0.95[AFR][1000 genomes]
rs35606071	0.91[AFR][1000 genomes]
rs35663171	0.95[AFR][1000 genomes]
rs6899284	1.00[YRI][hapmap]
rs7716224	1.00[YRI][hapmap]
rs7716562	1.00[YRI][hapmap]

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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:43657600-43695200	Weak transcription	K562	blood
3	chr5:43659400-43696800	Weak transcription	Gastric	stomach
4	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
5	chr5:43659600-43710000	Weak transcription	Ovary	ovary
6	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:43661000-43682400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:43661000-43682600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:43661000-43683200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:43661000-43695600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:43661000-43702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:43664800-43699800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:43665200-43688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:43665200-43690400	Weak transcription	Fetal Lung	lung
17	chr5:43665200-43702400	Weak transcription	Fetal Heart	heart
18	chr5:43666800-43696600	Weak transcription	Spleen	Spleen
19	chr5:43667000-43695000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:43667000-43695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:43667000-43696800	Weak transcription	Lung	lung
22	chr5:43667000-43703200	Weak transcription	Colonic Mucosa	Colon
23	chr5:43667200-43695400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:43667400-43684000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:43667400-43685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:43671000-43685000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:43672400-43695800	Weak transcription	Esophagus	oesophagus
28	chr5:43673400-43695400	Weak transcription	Fetal Stomach	stomach
29	chr5:43673400-43696400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:43673600-43684000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:43673600-43687800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:43674200-43686000	Strong transcription	Dnd41	blood
33	chr5:43674600-43696400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:43674600-43699600	Weak transcription	Pancreas	Pancrea
35	chr5:43675200-43711400	Weak transcription	NH-A	brain
36	chr5:43675400-43683400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:43675400-43683600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:43675400-43687800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:43675600-43681200	Strong transcription	Primary T cells from cord blood	blood
40	chr5:43675600-43681600	Weak transcription	HepG2	liver
41	chr5:43675800-43683200	Weak transcription	Fetal Kidney	kidney
42	chr5:43675800-43683400	Weak transcription	HSMMtube	muscle
43	chr5:43675800-43685200	Strong transcription	Liver	Liver
44	chr5:43676400-43685200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:43676400-43687400	Weak transcription	NHEK	skin
46	chr5:43676400-43695400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:43676400-43703200	Weak transcription	Osteobl	bone
48	chr5:43676600-43681000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:43676600-43683800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:43676600-43695400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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