Variant report

Variant	rs11619443
Chromosome Location	chr13:38169715-38169716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1006416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11147662	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11618138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11843893	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17197908	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258466	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007577	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2209230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373781	0.92[ASN][1000 genomes]
rs3934220	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361602	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59082193	0.81[ASN][1000 genomes]
rs61957468	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61957469	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61957470	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61957472	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61957483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330679	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7333205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001709	1.00[CHB][hapmap]
rs9532090	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532093	1.00[JPT][hapmap]
rs9547953	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9547958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9547964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547977	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547985	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547986	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547991	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9547992	0.92[ASN][1000 genomes]
rs9547994	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9547996	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9547997	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9547998	1.00[JPT][hapmap]
rs9547999	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9548000	1.00[JPT][hapmap]
rs9548003	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9548008	0.81[ASN][1000 genomes]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:38139000-38171000	Weak transcription	Fetal Kidney	kidney
2	chr13:38150000-38171000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:38150200-38171400	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:38152600-38171200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:38163200-38171200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:38165800-38182400	Weak transcription	Placenta	Placenta
7	chr13:38167600-38170000	Active TSS	Fetal Muscle Leg	muscle
8	chr13:38167600-38171200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:38168400-38169800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:38168400-38169800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:38168400-38169800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:38168400-38170000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:38168600-38169800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:38168600-38169800	Active TSS	Right Atrium	heart
15	chr13:38168800-38169800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:38168800-38169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:38168800-38169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:38168800-38170000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr13:38168800-38171000	Enhancers	NHDF-Ad	bronchial
20	chr13:38168800-38171400	Transcr. at gene 5' and 3'	Osteobl	bone
21	chr13:38168800-38173400	Active TSS	Fetal Muscle Trunk	muscle
22	chr13:38169000-38169800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:38169000-38170000	Active TSS	Fetal Stomach	stomach
24	chr13:38169200-38169800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr13:38169200-38169800	Enhancers	Fetal Heart	heart
26	chr13:38169200-38173000	Active TSS	NH-A	brain
27	chr13:38169400-38169800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr13:38169400-38169800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr13:38169400-38169800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr13:38169400-38169800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr13:38169400-38169800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr13:38169400-38169800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:38169400-38169800	Transcr. at gene 5' and 3'	Fetal Lung	lung
34	chr13:38169400-38170600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:38169400-38173600	Active TSS	NHLF	lung
36	chr13:38169600-38170000	Enhancers	HUVEC	blood vessel
37	chr13:38169600-38172800	Weak transcription	H1 Cell Line	embryonic stem cell

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