Variant report

Variant	rs1373112
Chromosome Location	chr4:16193888-16193889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10019399	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10034719	0.88[ASN][1000 genomes]
rs10516298	0.92[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10516299	0.87[CHD][hapmap]
rs10939651	0.94[EUR][1000 genomes]
rs10939652	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10939653	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs11724076	0.81[ASN][1000 genomes]
rs11731602	0.86[ASN][1000 genomes]
rs11736424	0.82[ASN][1000 genomes]
rs11736827	0.80[ASN][1000 genomes]
rs12504884	0.81[ASN][1000 genomes]
rs12506249	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12506478	0.82[ASN][1000 genomes]
rs12513244	0.80[ASN][1000 genomes]
rs12646600	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12651110	0.84[ASN][1000 genomes]
rs1619904	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1662650	0.94[EUR][1000 genomes]
rs1662654	0.96[CEU][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs1662656	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893138	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16893143	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs16893144	0.86[JPT][hapmap]
rs16893147	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16893158	0.92[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs178450	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044195	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28453363	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28618674	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28645901	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs317854	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs317855	0.93[EUR][1000 genomes]
rs317869	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs317870	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs317871	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs317872	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs317874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs317875	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs317876	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs317877	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs317878	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35851218	0.81[ASN][1000 genomes]
rs4395495	0.93[EUR][1000 genomes]
rs56023844	0.84[ASN][1000 genomes]
rs56218994	0.86[ASN][1000 genomes]
rs57089965	0.84[ASN][1000 genomes]
rs60460559	0.81[ASN][1000 genomes]
rs60768295	0.81[ASN][1000 genomes]
rs73128457	0.84[ASN][1000 genomes]
rs73130433	0.82[ASN][1000 genomes]
rs73130439	0.82[ASN][1000 genomes]
rs73130445	0.82[ASN][1000 genomes]
rs73130449	0.84[ASN][1000 genomes]
rs73130451	0.84[ASN][1000 genomes]
rs73130453	0.84[ASN][1000 genomes]
rs73130456	0.81[ASN][1000 genomes]
rs7657191	0.96[ASN][1000 genomes]
rs894639	0.89[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.89[ASN][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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16163200-16195800	Weak transcription	HMEC	breast
2	chr4:16164400-16195000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:16168200-16198000	Weak transcription	A549	lung
6	chr4:16168400-16194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:16168400-16197800	Weak transcription	NHLF	lung
8	chr4:16168400-16198000	Weak transcription	NH-A	brain
9	chr4:16168600-16198000	Weak transcription	NHEK	skin
10	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:16171600-16194400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:16171600-16198000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:16172000-16198000	Weak transcription	HSMMtube	muscle
15	chr4:16174400-16196800	Weak transcription	Stomach Mucosa	stomach
16	chr4:16176200-16198000	Weak transcription	HSMM	muscle
17	chr4:16177000-16194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:16179200-16196000	Weak transcription	Fetal Heart	heart
19	chr4:16181000-16197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:16181000-16197800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
22	chr4:16182600-16194800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:16184200-16197600	Strong transcription	Primary B cells from cord blood	blood
24	chr4:16184200-16198000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:16184200-16200600	Strong transcription	Fetal Thymus	thymus
26	chr4:16184400-16194200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:16185400-16196000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:16185400-16197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:16185600-16197600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:16186200-16197400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:16186400-16197600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:16186800-16198000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:16187200-16194000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:16187200-16196400	Strong transcription	Dnd41	blood
35	chr4:16187400-16199600	Weak transcription	Hela-S3	cervix
36	chr4:16188200-16197800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:16188800-16197800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:16189000-16197800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:16190600-16198000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:16190800-16194800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:16190800-16196800	Strong transcription	Primary T cells from cord blood	blood
42	chr4:16191400-16207000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:16191600-16198200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:16191800-16195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:16191800-16197800	Weak transcription	NHDF-Ad	bronchial
46	chr4:16191800-16198000	Weak transcription	Fetal Kidney	kidney
47	chr4:16192000-16194200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:16192000-16198200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:16192200-16198000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:16192200-16204800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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