Variant report

Variant	rs974793
Chromosome Location	chr1:169478654-169478655
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169431261..169433752-chr1:169476428..169478805,3	K562	blood:
2	chr1:169452842..169455607-chr1:169476881..169480160,5	K562	blood:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169461542..169463578-chr1:169476860..169479328,2	K562	blood:
5	chr1:169465829..169468810-chr1:169477819..169479657,2	MCF-7	breast:
6	chr1:169452842..169460813-chr1:169474364..169480814,10	K562	blood:
7	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
8	chr1:169477985..169481647-chr1:169506965..169511270,5	MCF-7	breast:
9	chr1:169435449..169436120-chr1:169478294..169479156,2	MCF-7	breast:
10	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:
11	chr1:169476802..169481525-chr1:169483770..169486854,5	K562	blood:

No data

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

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10800450	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800453	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919178	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1121789	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11579441	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12127364	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1557570	0.80[CEU][hapmap];0.84[CHB][hapmap]
rs2009814	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187953	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2213866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2213867	0.82[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239851	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2420373	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766103	0.92[CHB][hapmap]
rs3766109	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766110	0.82[GIH][hapmap]
rs3820060	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs4524	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4525	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4656185	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4656187	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656684	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656685	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6016	0.95[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6017	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6021	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6030	0.83[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap]
rs6032	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6662593	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6662696	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670393	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6675244	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6701330	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs9287090	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9287092	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9332595	0.82[GIH][hapmap];0.82[LWK][hapmap]
rs9332600	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9332619	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332620	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332627	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9332635	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9332643	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9332651	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9332653	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs9332655	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9332665	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs9332667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169475800-169481600	Enhancers	Liver	Liver
2	chr1:169477400-169479400	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:169477400-169479800	Enhancers	HUVEC	blood vessel
4	chr1:169477600-169478800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:169477600-169478800	Enhancers	Adipose Nuclei	Adipose
6	chr1:169477600-169478800	Enhancers	Fetal Lung	lung
7	chr1:169477600-169479000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:169477600-169479000	Enhancers	Stomach Mucosa	stomach
9	chr1:169477600-169480000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:169477600-169481200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:169477800-169482600	Weak transcription	Placenta	Placenta
12	chr1:169477800-169482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:169478000-169482600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:169478200-169479200	Weak transcription	Primary T cells from cord blood	blood
15	chr1:169478200-169479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:169478200-169479400	Weak transcription	Hela-S3	cervix
17	chr1:169478200-169479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:169478200-169479600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:169478200-169480000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:169478200-169480600	Enhancers	HepG2	liver
21	chr1:169478200-169481800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:169478200-169482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:169478200-169487000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:169478400-169478800	Enhancers	K562	blood
25	chr1:169478400-169479000	Enhancers	Psoas Muscle	Psoas
26	chr1:169478400-169480400	Weak transcription	A549	lung
27	chr1:169478400-169481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:169478600-169478800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:169478600-169478800	Enhancers	Small Intestine	intestine
30	chr1:169478600-169480000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:169478600-169480800	Enhancers	HSMM	muscle
32	chr1:169478600-169481400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:169478600-169482600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:169478600-169482600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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