Variant report

Variant	rs1773719
Chromosome Location	chr1:223363312-223363313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223361957..223364992-chr1:223369104..223372360,3	K562	blood:
2	chr1:223357093..223359712-chr1:223361677..223364231,3	MCF-7	breast:
3	chr1:223361935..223364100-chr1:223404912..223406820,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11485986	0.93[ASN][1000 genomes]
rs11485987	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs1612521	1.00[ASN][1000 genomes]
rs1640803	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640811	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640812	0.86[JPT][hapmap]
rs1640813	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1640816	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1773722	1.00[ASN][1000 genomes]
rs1773723	1.00[ASN][1000 genomes]
rs1935305	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2160152	0.89[ASN][1000 genomes]
rs2430407	0.95[ASN][1000 genomes]
rs2430408	0.95[ASN][1000 genomes]
rs2430410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121256	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35797130	1.00[ASN][1000 genomes]
rs3768284	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4661283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4661284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744122	1.00[CEU][hapmap]
rs5744135	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744138	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744139	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744140	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744143	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs5744149	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs712862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[ASN][1000 genomes]
rs712863	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712865	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs725972	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73120253	0.89[ASN][1000 genomes]
rs73120267	0.91[ASN][1000 genomes]
rs73120269	0.91[ASN][1000 genomes]
rs851140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs851144	0.95[ASN][1000 genomes]
rs851146	0.95[ASN][1000 genomes]
rs851147	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs851148	1.00[CEU][hapmap]
rs851151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs851152	1.00[CEU][hapmap]
rs851153	1.00[CEU][hapmap]
rs851160	0.91[ASN][1000 genomes]
rs851163	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs851211	1.00[GIH][hapmap];0.85[JPT][hapmap]
rs851215	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs860372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs988241	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs988242	1.00[CHD][hapmap];0.86[JPT][hapmap]

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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
2	chr1:223361000-223364000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:223361400-223363800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223361400-223365400	Enhancers	Primary T cells from cord blood	blood
5	chr1:223361400-223365400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:223361600-223363400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:223361600-223364000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:223361600-223365600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:223361800-223364000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:223361800-223366400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:223362000-223363600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:223362000-223364200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:223362000-223365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:223362000-223365200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:223362200-223363800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:223362200-223365000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:223362200-223366200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:223362600-223364400	Enhancers	HMEC	breast
19	chr1:223362600-223364400	Enhancers	HSMM	muscle
20	chr1:223362800-223365000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr1:223363000-223363400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:223363000-223363800	Enhancers	Esophagus	oesophagus
23	chr1:223363000-223363800	Enhancers	GM12878-XiMat	blood
24	chr1:223363000-223364200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:223363000-223364400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:223363000-223364400	Enhancers	NH-A	brain
27	chr1:223363200-223363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:223363200-223363800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:223363200-223364000	Enhancers	Fetal Thymus	thymus
30	chr1:223363200-223364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:223363200-223364200	Enhancers	Dnd41	blood
32	chr1:223363200-223364200	Enhancers	HSMMtube	muscle
33	chr1:223363200-223364400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:223363200-223364400	Enhancers	NHEK	skin
35	chr1:223363200-223364400	Enhancers	Osteobl	bone
36	chr1:223363200-223370400	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links