Variant report

Variant	rs6750529
Chromosome Location	chr2:182027603-182027604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10177832	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10194025	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10194653	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10195880	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10204666	0.92[CHB][hapmap]
rs10207887	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10930960	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11889566	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11902868	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12151685	0.83[CHB][hapmap]
rs13008615	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13031976	0.88[ASN][1000 genomes]
rs13032688	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13035390	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1401124	0.83[CHB][hapmap]
rs1401125	0.83[CHB][hapmap]
rs1401126	0.83[CHB][hapmap]
rs1401128	0.83[CHB][hapmap]
rs1401131	0.83[CHB][hapmap]
rs1401135	0.83[CHB][hapmap]
rs1518452	0.83[CHB][hapmap]
rs1518455	0.83[CHB][hapmap]
rs1518456	0.83[CHB][hapmap]
rs17668214	0.83[CHB][hapmap]
rs2048976	0.83[CHB][hapmap]
rs2048977	0.83[CHB][hapmap]
rs2090558	0.83[CHB][hapmap]
rs2368189	0.83[CHB][hapmap]
rs2368190	0.81[CHB][hapmap]
rs3792220	0.83[CHB][hapmap]
rs4077213	0.83[CHB][hapmap]
rs4233789	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4233791	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4233792	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4233795	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4233796	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4233797	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4254470	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4305233	0.88[ASN][1000 genomes]
rs4374330	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4432411	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4441426	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4441427	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4441428	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4441429	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4462758	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4473348	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4511685	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4539757	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666668	0.83[CHB][hapmap]
rs4666669	0.83[CHB][hapmap]
rs4666719	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666722	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666723	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4666725	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667004	0.83[CHB][hapmap]
rs4667020	0.83[CHB][hapmap]
rs4667041	0.83[CHB][hapmap]
rs4667082	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4667117	0.84[ASN][1000 genomes]
rs4667141	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667142	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667158	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667162	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433880	0.83[CHB][hapmap]
rs6433897	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433901	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6704963	0.83[CHB][hapmap]
rs6717590	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6720571	0.87[ASN][1000 genomes]
rs6723271	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6730853	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6731523	0.83[CHB][hapmap]
rs6734603	0.82[EUR][1000 genomes]
rs6734702	0.92[ASN][1000 genomes]
rs6737752	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747525	0.83[CHB][hapmap]
rs6747566	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6747797	0.92[CHB][hapmap]
rs7355504	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7355566	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7355692	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7370006	0.83[CHB][hapmap]
rs7370048	0.83[CHB][hapmap]
rs7371259	0.83[CHB][hapmap]
rs7424715	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7575113	0.81[CHB][hapmap]
rs7600236	0.93[ASN][1000 genomes]
rs908736	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182021200-182030000	Weak transcription	Thymus	Thymus
2	chr2:182021800-182027800	Weak transcription	Dnd41	blood
3	chr2:182022000-182027800	Weak transcription	Fetal Thymus	thymus
4	chr2:182025800-182028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:182026000-182029600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:182026600-182028200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:182026800-182028000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:182026800-182028200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:182026800-182029600	Enhancers	GM12878-XiMat	blood
10	chr2:182027000-182029800	Enhancers	Primary T cells from cord blood	blood
11	chr2:182027400-182029800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:182027600-182028000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:182027600-182028400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:182027600-182028600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:182027600-182029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:182027600-182029600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:182027600-182030000	Enhancers	Primary B cells from cord blood	blood

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