Variant report

Variant	rs4714145
Chromosome Location	chr6:38286538-38286539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10484930	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10484931	0.82[JPT][hapmap]
rs12055513	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12524225	1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12527432	0.86[JPT][hapmap]
rs12529549	0.85[ASN][1000 genomes]
rs12660323	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12664994	0.91[JPT][hapmap]
rs16890552	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16890561	0.85[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395697	0.82[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711531	0.86[JPT][hapmap]
rs4714139	0.86[JPT][hapmap]
rs57012325	0.83[ASN][1000 genomes]
rs57575973	0.83[ASN][1000 genomes]
rs57934228	0.90[ASN][1000 genomes]
rs59459724	0.82[EUR][1000 genomes]
rs60500173	0.83[ASN][1000 genomes]
rs6938840	0.85[JPT][hapmap]
rs714930	0.89[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73422824	0.86[ASN][1000 genomes]
rs73422833	0.86[ASN][1000 genomes]
rs73730927	0.82[ASN][1000 genomes]
rs73730928	0.83[ASN][1000 genomes]
rs7771835	0.83[JPT][hapmap]
rs871182	0.94[ASN][1000 genomes]
rs871184	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9296243	0.86[JPT][hapmap]
rs9349065	0.95[JPT][hapmap]
rs9349069	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9349071	0.82[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9366956	0.85[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9369046	0.88[ASN][1000 genomes]
rs9369047	1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[ASN][1000 genomes]
rs9369052	0.82[JPT][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380728	0.82[JPT][hapmap]
rs9380729	0.80[ASN][1000 genomes]
rs9380734	0.91[ASN][1000 genomes]
rs9380735	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9380736	0.83[JPT][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9394483	0.88[JPT][hapmap]
rs9394487	0.95[JPT][hapmap]
rs9394490	0.87[ASN][1000 genomes]
rs9394491	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38274400-38288600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:38275400-38301200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:38276000-38287600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:38276000-38287800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:38276200-38286800	Weak transcription	HSMMtube	muscle
6	chr6:38278000-38310600	Weak transcription	Gastric	stomach
7	chr6:38278200-38288000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:38278200-38295000	Weak transcription	Lung	lung
9	chr6:38278400-38305400	Weak transcription	Pancreas	Pancrea
10	chr6:38281000-38286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:38281800-38286800	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:38282600-38301400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:38283000-38304000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:38284200-38296000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:38284400-38287600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:38284800-38287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:38284800-38301200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:38285200-38288200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:38285400-38287600	Enhancers	GM12878-XiMat	blood
21	chr6:38286000-38286800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:38286200-38287600	Strong transcription	Primary T cells from cord blood	blood
23	chr6:38286400-38286600	Enhancers	Left Ventricle	heart
24	chr6:38286400-38286800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:38286400-38286800	Enhancers	Spleen	Spleen
26	chr6:38286400-38287400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr6:38286400-38287600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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