Variant report

Variant	rs970740
Chromosome Location	chr1:169479974-169479975
allele	C/T
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	chr1:169452842..169455607-chr1:169476881..169480160,5	K562	blood:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169461586..169463746-chr1:169479948..169481898,2	MCF-7	breast:
5	chr1:169452842..169460813-chr1:169474364..169480814,10	K562	blood:
6	chr1:169478952..169480932-chr1:169498032..169500995,2	MCF-7	breast:
7	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
8	chr1:169477985..169481647-chr1:169506965..169511270,5	MCF-7	breast:
9	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:
10	chr1:169476802..169481525-chr1:169483770..169486854,5	K562	blood:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018827	1.00[CEU][hapmap]
rs10737547	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2213868	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2420370	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2420371	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2420372	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4264045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6009	1.00[CEU][hapmap]
rs6427194	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6427195	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6427196	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6427197	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6670848	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682179	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6687813	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72542443	0.86[AFR][1000 genomes]
rs9332666	1.00[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169475800-169481600	Enhancers	Liver	Liver
2	chr1:169477600-169480000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:169477600-169481200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:169477800-169482600	Weak transcription	Placenta	Placenta
5	chr1:169477800-169482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:169478000-169482600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:169478200-169480000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:169478200-169480600	Enhancers	HepG2	liver
9	chr1:169478200-169481800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:169478200-169482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:169478200-169487000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:169478400-169480400	Weak transcription	A549	lung
13	chr1:169478400-169481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:169478600-169480000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:169478600-169480800	Enhancers	HSMM	muscle
16	chr1:169478600-169481400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169478600-169482600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:169478600-169482600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:169478800-169480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:169478800-169482000	Weak transcription	Adipose Nuclei	Adipose
21	chr1:169478800-169482600	Weak transcription	Fetal Lung	lung
22	chr1:169478800-169484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:169478800-169488200	Weak transcription	Small Intestine	intestine
24	chr1:169479400-169481000	Enhancers	Stomach Mucosa	stomach
25	chr1:169479400-169482600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:169479400-169485000	Enhancers	Hela-S3	cervix
27	chr1:169479600-169481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:169479600-169482600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:169479800-169480200	Weak transcription	HUVEC	blood vessel
30	chr1:169479800-169481400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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