Variant report

Variant	rs701947
Chromosome Location	chr1:210233055-210233056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210225380..210227155-chr1:210230705..210233620,2	K562	blood:
2	chr1:210225380..210227354-chr1:210231385..210234453,3	K562	blood:
3	chr1:210191948..210194916-chr1:210232522..210235373,2	K562	blood:

Variant related genes	Relation type
ENSG00000143469	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs1028325	0.85[EUR][1000 genomes]
rs1040423	0.86[EUR][1000 genomes]
rs10746423	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10779516	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779517	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10779518	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10779523	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10779525	0.87[AMR][1000 genomes]
rs10863799	0.83[EUR][1000 genomes]
rs10863811	0.85[EUR][1000 genomes]
rs1099863	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119363	0.83[EUR][1000 genomes]
rs11119369	0.84[EUR][1000 genomes]
rs11119370	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11119374	0.90[EUR][1000 genomes]
rs11119375	0.88[EUR][1000 genomes]
rs11119376	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11119382	0.92[EUR][1000 genomes]
rs11119407	0.85[EUR][1000 genomes]
rs11119409	0.89[EUR][1000 genomes]
rs11119413	0.87[EUR][1000 genomes]
rs11119414	0.88[EUR][1000 genomes]
rs11119425	0.87[AMR][1000 genomes]
rs11119427	0.88[AMR][1000 genomes]
rs11119428	0.88[AMR][1000 genomes]
rs11119429	0.87[AMR][1000 genomes]
rs12025114	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs12042135	0.89[EUR][1000 genomes]
rs12078439	0.83[EUR][1000 genomes]
rs12083466	0.83[EUR][1000 genomes]
rs12092530	0.84[EUR][1000 genomes]
rs12129172	0.88[AMR][1000 genomes]
rs126277	0.94[EUR][1000 genomes]
rs126278	0.91[EUR][1000 genomes]
rs1334567	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1334568	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1334569	0.91[EUR][1000 genomes]
rs1387933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387934	0.93[EUR][1000 genomes]
rs1413695	0.87[AMR][1000 genomes]
rs1490419	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs170552	0.93[EUR][1000 genomes]
rs170553	0.93[EUR][1000 genomes]
rs170555	0.93[EUR][1000 genomes]
rs170557	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170558	0.93[EUR][1000 genomes]
rs183450	0.92[EUR][1000 genomes]
rs189000	0.93[EUR][1000 genomes]
rs189001	0.93[EUR][1000 genomes]
rs1933477	0.86[AMR][1000 genomes]
rs2046849	0.88[EUR][1000 genomes]
rs2142861	0.91[EUR][1000 genomes]
rs2200970	0.88[EUR][1000 genomes]
rs2205987	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2205988	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2205989	0.91[EUR][1000 genomes]
rs227168	0.92[EUR][1000 genomes]
rs227169	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227170	0.92[EUR][1000 genomes]
rs227171	0.92[EUR][1000 genomes]
rs227172	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227173	0.93[EUR][1000 genomes]
rs227174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227175	0.93[EUR][1000 genomes]
rs227176	0.93[EUR][1000 genomes]
rs227177	0.93[EUR][1000 genomes]
rs227178	0.91[EUR][1000 genomes]
rs227179	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227181	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227182	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227183	0.93[EUR][1000 genomes]
rs227184	0.93[EUR][1000 genomes]
rs227186	0.93[EUR][1000 genomes]
rs227187	0.93[EUR][1000 genomes]
rs227188	0.93[EUR][1000 genomes]
rs227189	0.82[EUR][1000 genomes]
rs227190	0.93[EUR][1000 genomes]
rs227191	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227193	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227195	0.93[EUR][1000 genomes]
rs227196	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227197	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs227200	0.93[EUR][1000 genomes]
rs227201	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227202	0.93[EUR][1000 genomes]
rs227203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227204	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227206	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs227207	0.94[EUR][1000 genomes]
rs227209	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227211	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227216	0.93[EUR][1000 genomes]
rs227217	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227218	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227219	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227221	0.93[EUR][1000 genomes]
rs227223	0.92[EUR][1000 genomes]
rs227224	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227225	0.88[EUR][1000 genomes]
rs227226	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs227227	0.92[EUR][1000 genomes]
rs227228	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227229	0.93[EUR][1000 genomes]
rs227230	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227232	0.93[EUR][1000 genomes]
rs2357212	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2473073	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2485890	0.86[AMR][1000 genomes]
rs2485891	0.87[AMR][1000 genomes]
rs2485892	0.87[AMR][1000 genomes]
rs2494168	0.87[AMR][1000 genomes]
rs2494169	0.87[AMR][1000 genomes]
rs2494189	0.90[AMR][1000 genomes]
rs2494190	0.88[AMR][1000 genomes]
rs2636373	0.93[EUR][1000 genomes]
rs2636376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2743889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743891	0.96[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs2884124	0.82[EUR][1000 genomes]
rs4282820	0.83[EUR][1000 genomes]
rs4421592	0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes]
rs4454550	0.82[EUR][1000 genomes]
rs4462143	0.86[EUR][1000 genomes]
rs4844947	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4844948	0.87[EUR][1000 genomes]
rs4844954	0.81[MKK][hapmap]
rs6540567	0.83[EUR][1000 genomes]
rs6540568	0.84[EUR][1000 genomes]
rs6540569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6540570	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs6540573	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6540575	0.84[EUR][1000 genomes]
rs6540580	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6540584	0.88[AMR][1000 genomes]
rs6656855	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6657984	0.85[EUR][1000 genomes]
rs6662445	0.84[EUR][1000 genomes]
rs6667057	0.86[EUR][1000 genomes]
rs6678081	0.85[EUR][1000 genomes]
rs6682334	0.93[EUR][1000 genomes]
rs6682546	0.83[EUR][1000 genomes]
rs6689456	0.92[EUR][1000 genomes]
rs6702257	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6702961	0.86[EUR][1000 genomes]
rs701948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724054	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7513171	0.93[EUR][1000 genomes]
rs7514257	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519750	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7525980	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7528647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7529352	0.89[CHD][hapmap]
rs7530426	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541569	0.92[AMR][1000 genomes]
rs7544033	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547709	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7548989	0.90[EUR][1000 genomes]
rs7549523	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7549696	0.83[EUR][1000 genomes]
rs846545	0.93[EUR][1000 genomes]
rs846546	0.85[EUR][1000 genomes]
rs846548	0.93[EUR][1000 genomes]
rs846549	0.93[EUR][1000 genomes]
rs846550	0.92[EUR][1000 genomes]
rs846551	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846552	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846553	0.93[EUR][1000 genomes]
rs846554	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs846555	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846556	0.93[EUR][1000 genomes]
rs846557	0.93[EUR][1000 genomes]
rs846559	0.96[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs860155	0.83[EUR][1000 genomes]
rs9429827	0.86[EUR][1000 genomes]
rs9429829	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs9429830	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs9430024	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9430026	0.90[EUR][1000 genomes]
rs9659395	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9662387	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs986057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873141	chr1:210228131-210296910	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210221400-210243200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:210223600-210245600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210224400-210250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210232200-210235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links