Variant report

Variant	rs6427196
Chromosome Location	chr1:169481223-169481224
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169475668..169477747-chr1:169479800..169482071,3	MCF-7	breast:
2	chr1:169480439..169483097-chr1:169493507..169495167,2	MCF-7	breast:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169461586..169463746-chr1:169479948..169481898,2	MCF-7	breast:
5	chr1:169467114..169469226-chr1:169481035..169483350,2	K562	blood:
6	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
7	chr1:169477985..169481647-chr1:169506965..169511270,5	MCF-7	breast:
8	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:
9	chr1:169476802..169481525-chr1:169483770..169486854,5	K562	blood:
10	chr1:169480009..169482936-chr1:169495810..169499823,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198734	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1018827	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10737547	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2420370	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2420371	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2420372	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4264045	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6009	1.00[CEU][hapmap]
rs6427194	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427195	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427197	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6670848	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6682179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687813	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9332666	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs970740	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Venous thromboembolism	23650146	GWAS catalog

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169475800-169481600	Enhancers	Liver	Liver
2	chr1:169477800-169482600	Weak transcription	Placenta	Placenta
3	chr1:169477800-169482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:169478000-169482600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:169478200-169481800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:169478200-169482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:169478200-169487000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:169478400-169481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:169478600-169481400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:169478600-169482600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:169478600-169482600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:169478800-169482000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:169478800-169482600	Weak transcription	Fetal Lung	lung
14	chr1:169478800-169484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:169478800-169488200	Weak transcription	Small Intestine	intestine
16	chr1:169479400-169482600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:169479400-169485000	Enhancers	Hela-S3	cervix
18	chr1:169479600-169481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:169479600-169482600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:169479800-169481400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:169480000-169481400	Enhancers	NHDF-Ad	bronchial
22	chr1:169480000-169482000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:169480000-169482000	Enhancers	HMEC	breast
24	chr1:169480000-169483000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:169480200-169481400	Enhancers	HUVEC	blood vessel
26	chr1:169480200-169481800	Enhancers	Osteobl	bone
27	chr1:169480200-169482000	Enhancers	NHEK	skin
28	chr1:169480400-169481600	Enhancers	NH-A	brain
29	chr1:169480400-169481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:169480600-169481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:169480600-169483600	Weak transcription	HepG2	liver
32	chr1:169480800-169482400	Weak transcription	NHLF	lung
33	chr1:169480800-169483800	Weak transcription	HSMMtube	muscle
34	chr1:169481000-169481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:169481000-169481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:169481000-169482000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:169481000-169484000	Weak transcription	Stomach Mucosa	stomach
38	chr1:169481200-169481600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:169481200-169481600	Enhancers	Colon Smooth Muscle	Colon
40	chr1:169481200-169484000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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