Variant report

Variant	rs4688719
Chromosome Location	chr3:50508213-50508214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50504892..50506410-chr3:50507364..50510022,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1107265	0.94[CEU][hapmap]
rs11130250	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490042	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12492113	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12494849	0.88[CEU][hapmap]
rs13087550	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13091933	0.82[CEU][hapmap]
rs13094336	0.81[CEU][hapmap]
rs13099869	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467913	0.88[CEU][hapmap]
rs1467914	0.88[CEU][hapmap]
rs2027854	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236950	0.86[AMR][1000 genomes]
rs2236953	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236954	0.94[CEU][hapmap]
rs2236955	0.94[CEU][hapmap];0.80[AMR][1000 genomes]
rs2236956	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236957	0.94[CEU][hapmap]
rs2236958	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236959	0.94[CEU][hapmap]
rs2236961	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236962	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236963	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236964	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2236965	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2236967	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236968	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236971	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236973	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2236975	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236979	0.94[CEU][hapmap]
rs2236981	0.85[EUR][1000 genomes]
rs2236983	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236984	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs2236987	0.94[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2236988	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282752	0.94[CEU][hapmap]
rs2282753	0.94[CEU][hapmap]
rs2282754	0.94[CEU][hapmap]
rs2282756	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2282758	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2282760	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282762	0.89[EUR][1000 genomes]
rs2298955	0.94[CEU][hapmap];0.80[AMR][1000 genomes]
rs34762184	0.94[CEU][hapmap]
rs35986136	0.94[CEU][hapmap]
rs4688720	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628081	0.83[CEU][hapmap]
rs6446206	0.82[EUR][1000 genomes]
rs6786523	0.88[CEU][hapmap]
rs6787890	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6788459	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6792502	0.88[CEU][hapmap]
rs6807916	0.94[CEU][hapmap]
rs71326932	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs734767	0.94[CEU][hapmap]
rs743756	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs743757	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs743857	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs762895	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs762897	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs762898	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs763030	0.88[CEU][hapmap]
rs8180034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs916217	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs929047	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9835537	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs9867588	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS 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 target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50488600-50511200	Weak transcription	Lung	lung
2	chr3:50492600-50528400	Weak transcription	Gastric	stomach
3	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:50496400-50511600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:50502200-50510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:50502600-50509000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:50502600-50509600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:50502600-50515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
11	chr3:50503400-50510600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:50504600-50508600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:50504600-50509000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:50505000-50510600	Weak transcription	Spleen	Spleen
15	chr3:50505800-50508800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:50507000-50508600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50507200-50508600	Enhancers	Fetal Brain Male	brain
18	chr3:50507600-50508400	Enhancers	Brain Germinal Matrix	brain
19	chr3:50507600-50509000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:50507800-50509600	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:50508200-50508600	Enhancers	Fetal Brain Female	brain

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