Variant report

Variant	rs851151
Chromosome Location	chr1:223396334-223396335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223395360..223400819-chr1:223404357..223407646,5	K562	blood:
2	chr1:223387836..223389838-chr1:223395559..223397625,2	MCF-7	breast:
3	chr1:223390971..223394178-chr1:223394511..223397786,3	K562	blood:
4	chr1:223395478..223397290-chr1:223399963..223402713,2	K562	blood:
5	chr1:223395175..223396952-chr1:223402453..223404793,2	MCF-7	breast:
6	chr1:223394804..223398187-chr1:223403949..223407417,5	K562	blood:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11485986	0.98[ASN][1000 genomes]
rs11485987	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11485988	0.87[EUR][1000 genomes]
rs11488551	0.87[EUR][1000 genomes]
rs1417744	1.00[MEX][hapmap]
rs1612521	0.95[ASN][1000 genomes]
rs1640803	1.00[CEU][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1640811	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1640812	0.86[JPT][hapmap]
rs1640813	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1640816	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs1773719	0.95[ASN][1000 genomes]
rs1773722	0.95[ASN][1000 genomes]
rs1773723	0.95[ASN][1000 genomes]
rs1773753	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1935305	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs2160152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2253649	1.00[MEX][hapmap]
rs2430407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430408	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430409	0.86[EUR][1000 genomes]
rs2430410	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3121256	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34071437	0.86[EUR][1000 genomes]
rs34218350	0.86[EUR][1000 genomes]
rs35169648	0.87[EUR][1000 genomes]
rs35227692	0.86[EUR][1000 genomes]
rs35551279	0.86[EUR][1000 genomes]
rs35644560	0.87[EUR][1000 genomes]
rs35778136	0.86[EUR][1000 genomes]
rs35797130	0.95[ASN][1000 genomes]
rs3768284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4661283	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661284	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744122	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs5744135	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744138	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744139	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744140	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744143	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744149	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs5744167	1.00[MEX][hapmap]
rs712862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712863	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712865	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs725972	0.95[ASN][1000 genomes]
rs73118176	0.87[EUR][1000 genomes]
rs73118177	0.87[EUR][1000 genomes]
rs73118181	0.87[EUR][1000 genomes]
rs73118186	0.87[EUR][1000 genomes]
rs73118187	0.87[EUR][1000 genomes]
rs73118190	0.87[EUR][1000 genomes]
rs73118193	0.87[EUR][1000 genomes]
rs73118194	0.87[EUR][1000 genomes]
rs73118198	0.87[EUR][1000 genomes]
rs73118201	0.87[EUR][1000 genomes]
rs73118202	0.87[EUR][1000 genomes]
rs73120203	0.87[EUR][1000 genomes]
rs73120204	0.87[EUR][1000 genomes]
rs73120207	0.87[EUR][1000 genomes]
rs73120219	0.87[EUR][1000 genomes]
rs73120224	0.87[EUR][1000 genomes]
rs73120229	0.87[EUR][1000 genomes]
rs73120232	0.87[EUR][1000 genomes]
rs73120236	0.86[EUR][1000 genomes]
rs73120250	0.86[EUR][1000 genomes]
rs73120253	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73120257	0.86[EUR][1000 genomes]
rs73120261	0.86[EUR][1000 genomes]
rs73120265	0.86[EUR][1000 genomes]
rs73120267	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73120269	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73120297	0.86[EUR][1000 genomes]
rs825126	1.00[MEX][hapmap]
rs851140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851144	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851145	0.86[EUR][1000 genomes]
rs851146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851147	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs851148	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs851150	0.86[EUR][1000 genomes]
rs851152	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs851153	1.00[CEU][hapmap]
rs851154	0.86[EUR][1000 genomes]
rs851155	0.86[EUR][1000 genomes]
rs851156	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851158	0.86[EUR][1000 genomes]
rs851160	0.95[ASN][1000 genomes]
rs851163	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851195	1.00[MEX][hapmap]
rs851197	1.00[MEX][hapmap]
rs851200	1.00[MEX][hapmap]
rs851211	0.85[JPT][hapmap]
rs851215	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs860372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs988241	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs988242	0.95[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:223390400-223406400	Weak transcription	Gastric	stomach
3	chr1:223392800-223396400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:223392800-223397200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:223393400-223397000	Strong transcription	Ovary	ovary
7	chr1:223393400-223402000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:223394000-223398200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:223394000-223400800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:223394600-223406800	Weak transcription	Pancreas	Pancrea
11	chr1:223395000-223396600	Strong transcription	Brain Angular Gyrus	brain
12	chr1:223395400-223396400	Weak transcription	Esophagus	oesophagus
13	chr1:223395400-223399600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:223395600-223401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:223395800-223396800	Strong transcription	Primary T cells from cord blood	blood
16	chr1:223396000-223402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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