Variant report

Variant	rs16889896
Chromosome Location	chr5:58779531-58779532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10514863	0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs1156029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12514658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1506557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16889876	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16889882	0.97[ASN][1000 genomes]
rs16889883	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16889885	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1848059	1.00[ASN][1000 genomes]
rs1848060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28424104	0.90[ASN][1000 genomes]
rs28508065	0.90[ASN][1000 genomes]
rs28571683	0.85[ASN][1000 genomes]
rs28706428	0.85[ASN][1000 genomes]
rs72767785	1.00[ASN][1000 genomes]
rs73758981	0.85[AMR][1000 genomes]
rs73761526	0.85[AMR][1000 genomes]
rs7724786	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs931855	0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs992726	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs9942415	0.97[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	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58762600-58780600	Weak transcription	Fetal Lung	lung
3	chr5:58774000-58783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:58774600-58783000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:58775200-58780200	Weak transcription	Brain Substantia Nigra	brain
6	chr5:58775400-58779600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:58775600-58780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:58776600-58783000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:58777400-58783600	Weak transcription	Psoas Muscle	Psoas
10	chr5:58777800-58781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:58778000-58780000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:58778600-58783800	Weak transcription	Small Intestine	intestine
13	chr5:58778800-58779600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:58778800-58779600	Enhancers	Gastric	stomach
15	chr5:58778800-58779600	Enhancers	Pancreas	Pancrea
16	chr5:58778800-58779800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:58778800-58779800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:58778800-58780000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:58778800-58780600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:58778800-58785000	Enhancers	Fetal Brain Male	brain
21	chr5:58779000-58779800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:58779000-58780000	Enhancers	A549	lung
23	chr5:58779200-58780200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:58779200-58780200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:58779200-58781200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:58779400-58779600	Enhancers	Liver	Liver
27	chr5:58779400-58779800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:58779400-58779800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:58779400-58779800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:58779400-58779800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:58779400-58780000	Enhancers	Fetal Muscle Leg	muscle
32	chr5:58779400-58780600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:58779400-58780800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:58779400-58780800	Enhancers	HSMMtube	muscle
35	chr5:58779400-58780800	Enhancers	NH-A	brain
36	chr5:58779400-58781600	Enhancers	Rectal Smooth Muscle	rectum
37	chr5:58779400-58782200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:58779400-58782200	Enhancers	Brain Germinal Matrix	brain
39	chr5:58779400-58782200	Enhancers	NHEK	skin
40	chr5:58779400-58784400	Enhancers	Fetal Brain Female	brain
41	chr5:58779400-58784400	Enhancers	Fetal Heart	heart

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