Variant report

Variant	rs4714149
Chromosome Location	chr6:38323470-38323471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38322182..38323734-chr6:38327632..38329404,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2294739	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4140443	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs4711538	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711540	0.80[EUR][1000 genomes]
rs4711544	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs4714151	0.82[EUR][1000 genomes]
rs4714155	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4714156	0.83[CHB][hapmap]
rs58424668	0.83[EUR][1000 genomes]
rs58807047	0.83[EUR][1000 genomes]
rs7759078	0.83[CHB][hapmap]
rs9366957	0.86[EUR][1000 genomes]
rs9369055	0.83[CHB][hapmap]
rs9380740	0.92[CHB][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380741	0.82[CHB][hapmap]
rs9394493	0.86[ASN][1000 genomes]
rs9394494	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:38301600-38324600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:38310800-38326000	Weak transcription	Lung	lung
4	chr6:38312000-38326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:38313800-38325800	Weak transcription	Psoas Muscle	Psoas
6	chr6:38313800-38331200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:38314800-38325800	Weak transcription	Right Atrium	heart
8	chr6:38315200-38325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:38318200-38324600	Weak transcription	Small Intestine	intestine
11	chr6:38319200-38325400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:38319200-38325600	Weak transcription	Fetal Stomach	stomach
13	chr6:38319200-38327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:38319200-38334200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:38320000-38325400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:38320800-38323800	Flanking Active TSS	GM12878-XiMat	blood
17	chr6:38321600-38323600	Enhancers	Fetal Brain Female	brain
18	chr6:38322600-38323600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:38322600-38323600	Enhancers	Brain Anterior Caudate	brain
20	chr6:38322600-38325200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:38323000-38323600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:38323000-38325000	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:38323000-38326800	Weak transcription	Fetal Brain Male	brain
24	chr6:38323200-38323800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:38323200-38324800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:38323200-38325400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:38323200-38325400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:38323200-38328800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:38323200-38331800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:38323400-38323600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:38323400-38323600	Flanking Active TSS	Ovary	ovary
32	chr6:38323400-38323600	Active TSS	Osteobl	bone
33	chr6:38323400-38323800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:38323400-38327400	Weak transcription	Primary B cells from peripheral blood	blood

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