Variant report

Variant	rs1593439
Chromosome Location	chr15:57960312-57960313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57957919..57960382-chr15:58000140..58002579,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11071340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11071341	0.82[MEX][hapmap]
rs11071342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12440250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12441026	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1346120	1.00[CEU][hapmap]
rs1559775	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1690332	1.00[CEU][hapmap]
rs1834487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1946356	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1946357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2018558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2081515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2098890	1.00[ASN][1000 genomes]
rs2098891	1.00[ASN][1000 genomes]
rs2414516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2414517	0.81[GIH][hapmap]
rs2451181	1.00[CEU][hapmap]
rs2453096	1.00[CEU][hapmap]
rs2453097	1.00[CEU][hapmap]
rs2453098	1.00[CEU][hapmap]
rs2470359	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2733606	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs2899603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2934433	1.00[CEU][hapmap]
rs4564513	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774279	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4774280	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4774980	1.00[JPT][hapmap]
rs6493940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6493941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6493942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];1.00[ASN][1000 genomes]
rs6493944	0.89[AFR][1000 genomes]
rs7173197	1.00[CEU][hapmap]
rs7181645	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs724785	1.00[CEU][hapmap]
rs8023855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8024008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs933839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs986868	0.82[LWK][hapmap];0.86[YRI][hapmap]
rs9920996	1.00[ASN][1000 genomes]
rs9921015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
3	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57932200-57967400	Weak transcription	Aorta	Aorta
2	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
3	chr15:57949200-57967400	Weak transcription	Right Ventricle	heart
4	chr15:57955400-57964600	Weak transcription	Right Atrium	heart
5	chr15:57955600-57967400	Weak transcription	Fetal Lung	lung
6	chr15:57955800-57965600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:57955800-57967400	Weak transcription	Gastric	stomach
8	chr15:57957400-57960600	Enhancers	Liver	Liver
9	chr15:57957800-57960400	Enhancers	HMEC	breast
10	chr15:57958200-57960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:57958400-57960400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:57958800-57960400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:57958800-57960800	Enhancers	Fetal Heart	heart
14	chr15:57958800-57967200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:57959200-57960600	Enhancers	HSMMtube	muscle
16	chr15:57959400-57960400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:57959400-57960400	Enhancers	Adipose Nuclei	Adipose
18	chr15:57959400-57960400	Enhancers	Colon Smooth Muscle	Colon
19	chr15:57959400-57960400	Flanking Active TSS	Fetal Kidney	kidney
20	chr15:57959400-57960600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr15:57959600-57960400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:57959600-57960400	Active TSS	Fetal Intestine Large	intestine
23	chr15:57959600-57960400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr15:57959600-57960800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr15:57959600-57964200	Weak transcription	Pancreas	Pancrea
26	chr15:57959600-57967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:57959600-57967400	Weak transcription	Left Ventricle	heart
28	chr15:57959600-57982600	Weak transcription	Lung	lung
29	chr15:57959800-57960400	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:57959800-57960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:57959800-57963600	Weak transcription	HUVEC	blood vessel
32	chr15:57959800-57967800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:57960000-57960400	Weak transcription	Stomach Mucosa	stomach
34	chr15:57960000-57960400	Flanking Active TSS	A549	lung
35	chr15:57960000-57960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:57960000-57960600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:57960200-57960400	Enhancers	Brain Cingulate Gyrus	brain
38	chr15:57960200-57960400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr15:57960200-57960400	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr15:57960200-57964000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:57960200-57964000	Weak transcription	NHDF-Ad	bronchial
42	chr15:57960200-57967400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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