Variant report

Variant	rs6570622
Chromosome Location	chr6:144668710-144668711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144662894..144665141-chr6:144667747..144670464,2	K562	blood:
2	chr6:144666184..144667991-chr6:144668278..144670719,2	MCF-7	breast:
3	chr6:144666959..144669568-chr6:144687284..144689539,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1474627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474628	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56154144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58684675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58756941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60104486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61112175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941232	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.91[AFR][1000 genomes]
rs73591137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592834	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592848	0.87[AMR][1000 genomes]
rs7748561	0.87[AMR][1000 genomes]
rs7749006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:144658400-144670400	Weak transcription	Fetal Lung	lung
6	chr6:144660400-144670800	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:144661600-144670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:144661600-144670800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:144661800-144670800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:144663200-144685800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:144663400-144675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:144665400-144696400	Weak transcription	Fetal Intestine Small	intestine
13	chr6:144665800-144669200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:144665800-144670600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:144666000-144670400	Weak transcription	Liver	Liver
16	chr6:144666000-144670800	Weak transcription	Fetal Kidney	kidney
17	chr6:144666000-144671000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:144666200-144670600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:144666400-144670400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:144666400-144670800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:144666600-144669800	Enhancers	Fetal Thymus	thymus
22	chr6:144666800-144670400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:144666800-144671000	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:144667000-144668800	Enhancers	Primary T cells from cord blood	blood
25	chr6:144667000-144670800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:144667000-144671000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:144667000-144671000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:144667400-144668800	Flanking Active TSS	HUVEC	blood vessel
29	chr6:144667400-144669400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:144667400-144669400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:144667400-144669600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:144667400-144669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:144667400-144670800	Enhancers	Hela-S3	cervix
34	chr6:144667600-144668800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:144667600-144668800	Enhancers	Placenta	Placenta
36	chr6:144667600-144668800	Enhancers	NHLF	lung
37	chr6:144667600-144669000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:144667600-144669000	Enhancers	HMEC	breast
39	chr6:144667600-144669400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:144667600-144669400	Enhancers	NHEK	skin
41	chr6:144667600-144671400	Enhancers	Right Atrium	heart
42	chr6:144667600-144674800	Enhancers	Primary B cells from peripheral blood	blood
43	chr6:144667800-144668800	Enhancers	Fetal Muscle Trunk	muscle
44	chr6:144667800-144669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:144667800-144669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:144667800-144669000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:144667800-144669000	Enhancers	NHDF-Ad	bronchial
48	chr6:144667800-144669400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:144667800-144669400	Enhancers	Lung	lung
50	chr6:144667800-144669600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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