Variant report

Variant	rs258127
Chromosome Location	chr5:58709439-58709440
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs165940	0.90[JPT][hapmap]
rs171801	0.86[JPT][hapmap];0.82[MEX][hapmap]
rs181736	0.87[CHB][hapmap]
rs185417	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs193447	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs244590	0.88[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs244591	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs244592	0.90[JPT][hapmap]
rs244593	0.86[JPT][hapmap]
rs244594	0.90[JPT][hapmap]
rs244595	0.87[JPT][hapmap]
rs244596	0.88[JPT][hapmap]
rs244597	0.93[JPT][hapmap]
rs258105	0.85[JPT][hapmap]
rs258106	0.86[JPT][hapmap]
rs258108	0.86[JPT][hapmap]
rs258109	0.85[JPT][hapmap]
rs258110	0.86[JPT][hapmap]
rs258111	0.86[JPT][hapmap]
rs258112	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258113	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258114	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258115	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258116	0.94[ASN][1000 genomes]
rs258117	0.94[ASN][1000 genomes]
rs258118	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs258122	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs258126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258128	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs258129	0.85[JPT][hapmap]
rs2591750	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs365223	0.88[ASN][1000 genomes]
rs368538	0.88[ASN][1000 genomes]
rs370891	0.88[ASN][1000 genomes]
rs371775	0.89[JPT][hapmap]
rs378858	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs378869	0.86[JPT][hapmap]
rs378970	0.88[JPT][hapmap]
rs380993	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs381755	0.89[JPT][hapmap]
rs383046	0.88[ASN][1000 genomes]
rs383444	0.83[JPT][hapmap]
rs387647	0.91[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs392901	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs401013	0.89[JPT][hapmap]
rs403672	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs403695	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs424839	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs427740	0.90[JPT][hapmap]
rs427748	0.89[JPT][hapmap]
rs428059	0.95[JPT][hapmap]
rs431645	0.88[ASN][1000 genomes]
rs432879	0.93[ASN][1000 genomes]
rs433161	0.90[JPT][hapmap]
rs433565	0.90[JPT][hapmap]
rs434274	0.81[CEU][hapmap];0.88[ASN][1000 genomes]
rs434422	0.89[JPT][hapmap]
rs444552	0.90[JPT][hapmap]
rs454702	0.81[CEU][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs530656	0.88[ASN][1000 genomes]
rs531511	0.88[ASN][1000 genomes]
rs573336	0.89[JPT][hapmap]
rs60448063	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs669240	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58682000-58711800	Weak transcription	Psoas Muscle	Psoas
2	chr5:58704200-58714200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:58704600-58712000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:58704600-58712200	Weak transcription	Fetal Lung	lung
5	chr5:58704800-58711600	Weak transcription	Fetal Stomach	stomach
6	chr5:58705600-58710000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:58706400-58709800	Strong transcription	A549	lung
9	chr5:58707600-58714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:58708200-58709800	Enhancers	Liver	Liver
11	chr5:58708200-58710400	Enhancers	Fetal Intestine Small	intestine
12	chr5:58708400-58712200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:58708600-58709600	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:58708600-58718200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:58708800-58709600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:58709000-58709600	Weak transcription	HepG2	liver

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