Variant report

Variant	rs607284
Chromosome Location	chr6:140262366-140262367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140256563..140258976-chr6:140261576..140263079,2	K562	blood:
2	chr6:140261744..140263602-chr6:140311555..140314319,2	MCF-7	breast:
3	chr6:139867821..139870719-chr6:140261464..140264048,2	K562	blood:
4	chr6:140261253..140263387-chr6:140277092..140279215,2	MCF-7	breast:
5	chr6:140096649..140099517-chr6:140260643..140262599,2	K562	blood:
6	chr6:140240716..140243560-chr6:140261380..140263735,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1028469	0.84[EUR][1000 genomes]
rs13204837	0.83[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap]
rs1416289	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs584995	0.83[AMR][1000 genomes]
rs586246	0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs587235	0.81[EUR][1000 genomes]
rs592056	0.83[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs592440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598498	0.80[EUR][1000 genomes]
rs603310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609488	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs618515	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs647968	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs648510	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs650774	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679849	0.80[EUR][1000 genomes]
rs680290	0.80[EUR][1000 genomes]
rs681235	0.80[EUR][1000 genomes]
rs724061	0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs7743374	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7763294	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9389733	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9399298	0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap]
rs9403134	0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140259200-140262800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:140259200-140263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:140259200-140265600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:140259800-140262600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:140260000-140262600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:140261000-140262600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:140261000-140265400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:140261200-140262400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:140261200-140264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:140261600-140262800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:140261600-140262800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:140261600-140263600	Enhancers	HSMMtube	muscle
13	chr6:140261800-140262400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:140261800-140262600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:140261800-140262600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:140261800-140262600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:140261800-140262800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:140261800-140262800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:140261800-140262800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:140261800-140262800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:140261800-140263400	Enhancers	HUVEC	blood vessel
22	chr6:140261800-140264000	Enhancers	HSMM	muscle
23	chr6:140261800-140265600	Enhancers	Osteobl	bone
24	chr6:140262000-140262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:140262000-140262400	Active TSS	Aorta	Aorta
26	chr6:140262000-140262400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:140262000-140262600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:140262000-140262600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:140262000-140262600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:140262000-140262800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr6:140262000-140262800	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:140262000-140262800	Enhancers	Fetal Intestine Small	intestine
33	chr6:140262000-140262800	Enhancers	Ovary	ovary
34	chr6:140262000-140262800	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:140262000-140262800	Flanking Active TSS	K562	blood
36	chr6:140262000-140263200	Enhancers	Fetal Intestine Large	intestine
37	chr6:140262000-140263200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:140262000-140264200	Enhancers	Placenta	Placenta
39	chr6:140262000-140265600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:140262000-140265800	Enhancers	NHDF-Ad	bronchial
41	chr6:140262200-140262400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:140262200-140263600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:140262200-140263600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:140262200-140264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:140262200-140264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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