Variant report

Variant	rs4140654
Chromosome Location	chr6:5681246-5681247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5678900..5683178-chr6:5683336..5687695,5	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1001568	0.92[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1005521	0.80[JPT][hapmap]
rs11752777	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs12190311	0.81[CEU][hapmap]
rs12210617	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12216327	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2142738	0.85[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2326634	0.83[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4960125	0.81[CHB][hapmap]
rs6918383	0.82[AMR][1000 genomes]
rs6918561	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6918675	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6935719	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs760675	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7739358	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7742697	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs877010	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs878988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9328328	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9378980	0.81[CHB][hapmap]
rs9405859	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs9502329	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9504488	0.81[CEU][hapmap];0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
2	chr6:5672400-5685600	Weak transcription	Aorta	Aorta
3	chr6:5673800-5682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:5673800-5701200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:5674000-5681800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:5674400-5683600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:5674800-5681600	Weak transcription	Fetal Thymus	thymus
9	chr6:5678000-5682200	Enhancers	Primary T cells from cord blood	blood
10	chr6:5678000-5682400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:5678000-5686200	Weak transcription	Gastric	stomach
12	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
13	chr6:5678200-5681600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:5678200-5681800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:5678200-5694000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:5678400-5681600	Weak transcription	NHDF-Ad	bronchial
17	chr6:5678400-5693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:5678600-5686600	Weak transcription	Right Atrium	heart
19	chr6:5678800-5681800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:5679200-5682400	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:5679200-5682400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:5679600-5682000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:5680600-5681400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:5680600-5681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:5680600-5681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:5680600-5681600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:5680600-5681800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:5680600-5682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:5680600-5682600	Enhancers	Primary B cells from cord blood	blood
30	chr6:5680600-5684600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:5680600-5684600	Weak transcription	Spleen	Spleen
32	chr6:5680600-5695400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:5680800-5682400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:5680800-5684400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:5680800-5684400	Weak transcription	HSMMtube	muscle
36	chr6:5680800-5687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:5680800-5695000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:5681000-5681400	Weak transcription	GM12878-XiMat	blood
39	chr6:5681200-5681800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:5681200-5682400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:5681200-5682400	Enhancers	Osteobl	bone

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