Variant report

Variant	rs1418190
Chromosome Location	chr1:173361979-173361980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173354554..173358698-chr1:173361290..173364638,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10429844	0.82[ASN][1000 genomes]
rs10732993	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10737299	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10753071	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10753072	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10753073	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10753074	0.83[ASN][1000 genomes]
rs10798273	0.83[ASN][1000 genomes]
rs10798275	0.84[AFR][1000 genomes]
rs10798276	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10912594	0.80[ASN][1000 genomes]
rs10912596	0.80[ASN][1000 genomes]
rs10912601	0.82[ASN][1000 genomes]
rs10912605	0.83[ASN][1000 genomes]
rs10912609	0.83[ASN][1000 genomes]
rs10912610	0.83[ASN][1000 genomes]
rs11484635	0.82[ASN][1000 genomes]
rs1342033	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1342034	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1539255	0.80[ASN][1000 genomes]
rs1547811	0.86[ASW][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1578624	0.82[ASN][1000 genomes]
rs1935325	0.82[ASN][1000 genomes]
rs1935327	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1935331	0.85[YRI][hapmap]
rs1970508	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1985177	0.93[ASW][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2027500	0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.80[ASN][1000 genomes]
rs2039982	0.83[ASN][1000 genomes]
rs2039983	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2185702	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2422341	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2422345	0.82[ASN][1000 genomes]
rs2422346	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2422347	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2422348	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2901719	0.80[ASN][1000 genomes]
rs4916216	0.82[ASN][1000 genomes]
rs4916333	0.82[ASN][1000 genomes]
rs4916334	0.93[ASW][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4916335	0.93[ASW][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4916336	0.93[ASW][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4916338	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4916342	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4916347	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425218	0.80[ASN][1000 genomes]
rs6425219	0.82[ASN][1000 genomes]
rs6425220	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6425221	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6425222	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6425223	0.83[ASN][1000 genomes]
rs6425224	0.85[ASN][1000 genomes]
rs6664420	0.82[ASN][1000 genomes]
rs6664517	0.82[ASN][1000 genomes]
rs6680010	0.80[ASN][1000 genomes]
rs6703494	0.80[ASN][1000 genomes]
rs7537129	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7539776	0.83[ASN][1000 genomes]
rs7541006	0.82[ASN][1000 genomes]
rs7546179	0.80[ASN][1000 genomes]
rs7548710	0.83[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.80[ASN][1000 genomes]
rs7548835	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9286884	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
3	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
4	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
5	chr1:173353800-173362000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:173354000-173379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:173354800-173363800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:173354800-173376000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:173355400-173379800	Weak transcription	Pancreas	Pancrea
10	chr1:173356400-173371400	Weak transcription	GM12878-XiMat	blood
11	chr1:173360600-173363000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:173360600-173364000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:173360800-173363400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:173361000-173362000	Weak transcription	A549	lung
15	chr1:173361000-173362200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:173361000-173362400	Enhancers	HSMM	muscle
17	chr1:173361200-173362800	Enhancers	Fetal Lung	lung
18	chr1:173361600-173362200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:173361600-173362600	Enhancers	NHDF-Ad	bronchial
20	chr1:173361600-173363000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:173361600-173363400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:173361600-173363600	Enhancers	Osteobl	bone
23	chr1:173361600-173368400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:173361800-173363000	Enhancers	NH-A	brain

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