Variant report

Variant	rs11719998
Chromosome Location	chr3:50567736-50567737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50566678..50573015-chr3:50574866..50578180,7	K562	blood:
2	chr3:50567522..50569700-chr3:50602226..50604974,2	K562	blood:
3	chr3:50560226..50564542-chr3:50564835..50568102,5	K562	blood:
4	chr3:50561864..50565057-chr3:50565315..50568645,4	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1034405	0.85[EUR][1000 genomes]
rs12491425	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493985	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs129310	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13076850	0.85[EUR][1000 genomes]
rs13083004	0.83[EUR][1000 genomes]
rs13084476	0.90[EUR][1000 genomes]
rs13091933	0.88[EUR][1000 genomes]
rs13094336	0.84[EUR][1000 genomes]
rs175634	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17787569	0.84[EUR][1000 genomes]
rs201193	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs201194	0.83[EUR][1000 genomes]
rs201196	0.85[EUR][1000 genomes]
rs201198	0.85[EUR][1000 genomes]
rs2227280	0.84[EUR][1000 genomes]
rs2232248	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2232253	0.84[EUR][1000 genomes]
rs2269505	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269507	0.84[EUR][1000 genomes]
rs2355321	0.84[EUR][1000 genomes]
rs2355323	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34202063	0.84[EUR][1000 genomes]
rs34267788	0.86[EUR][1000 genomes]
rs34399912	0.84[EUR][1000 genomes]
rs34434811	0.86[EUR][1000 genomes]
rs34584636	0.84[EUR][1000 genomes]
rs34756253	0.90[EUR][1000 genomes]
rs34889917	0.84[EUR][1000 genomes]
rs35655236	0.83[EUR][1000 genomes]
rs35690191	0.83[EUR][1000 genomes]
rs35714264	0.88[EUR][1000 genomes]
rs35864641	0.86[EUR][1000 genomes]
rs3804627	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs391620	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs398703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399484	0.81[EUR][1000 genomes]
rs399971	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs414171	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs417592	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs441516	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs443030	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4533647	0.86[EUR][1000 genomes]
rs453570	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4688712	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490634	0.82[EUR][1000 genomes]
rs59949730	0.84[EUR][1000 genomes]
rs628081	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67425923	0.81[EUR][1000 genomes]
rs67588094	0.84[EUR][1000 genomes]
rs67813889	0.86[EUR][1000 genomes]
rs6784166	0.88[EUR][1000 genomes]
rs6787521	0.83[EUR][1000 genomes]
rs695170	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71326937	0.84[EUR][1000 genomes]
rs73082948	0.84[EUR][1000 genomes]
rs750453	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs750510	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs754298	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7646236	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs809454	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50558800-50570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:50566800-50568800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr3:50566800-50569200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr3:50567000-50568000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr3:50567000-50568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:50567200-50567800	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr3:50567200-50568600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:50567400-50567800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr3:50567400-50567800	Enhancers	Placenta	Placenta
10	chr3:50567400-50568000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:50567400-50568000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50567400-50568200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:50567400-50568400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr3:50567400-50568600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr3:50567400-50569200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr3:50567600-50567800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr3:50567600-50567800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:50567600-50567800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:50567600-50567800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:50567600-50567800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
27	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr3:50567600-50567800	Bivalent Enhancer	Fetal Heart	heart
29	chr3:50567600-50567800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr3:50567600-50567800	Enhancers	Right Atrium	heart
31	chr3:50567600-50568000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr3:50567600-50568000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:50567600-50568200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:50567600-50568200	Active TSS	Brain Hippocampus Middle	brain
35	chr3:50567600-50568400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:50567600-50568400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:50567600-50574400	Weak transcription	Spleen	Spleen

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