Variant report

Variant	rs2137311
Chromosome Location	chr15:77114340-77114341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10444809	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072619	0.85[ASN][1000 genomes]
rs11072620	0.85[ASN][1000 genomes]
rs11072625	0.86[ASN][1000 genomes]
rs11072626	0.83[ASN][1000 genomes]
rs11072628	0.91[ASN][1000 genomes]
rs11072631	0.92[ASN][1000 genomes]
rs11631082	0.85[ASN][1000 genomes]
rs11633869	0.92[ASN][1000 genomes]
rs11634266	0.86[ASN][1000 genomes]
rs11637494	0.90[ASN][1000 genomes]
rs11852395	0.86[ASN][1000 genomes]
rs11855296	0.90[ASN][1000 genomes]
rs11855534	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439141	0.86[ASN][1000 genomes]
rs12440691	0.92[ASN][1000 genomes]
rs12592686	0.90[ASN][1000 genomes]
rs12898416	0.85[ASN][1000 genomes]
rs12904149	0.83[ASN][1000 genomes]
rs12905181	0.85[ASN][1000 genomes]
rs12913024	0.93[ASN][1000 genomes]
rs12913730	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443115	0.85[ASN][1000 genomes]
rs1484990	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28823285	0.86[ASN][1000 genomes]
rs34215663	0.88[ASN][1000 genomes]
rs34998733	0.87[ASN][1000 genomes]
rs35374222	0.88[ASN][1000 genomes]
rs35710279	0.85[ASN][1000 genomes]
rs36114653	0.81[ASN][1000 genomes]
rs4312276	0.88[ASN][1000 genomes]
rs4886837	0.90[ASN][1000 genomes]
rs55746932	0.88[ASN][1000 genomes]
rs60702982	0.84[ASN][1000 genomes]
rs7178250	0.86[ASN][1000 genomes]
rs8025991	0.90[ASN][1000 genomes]
rs920712	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv457206	chr15:76971456-77121196	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv570110	chr15:76971456-77121196	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2137311	SCAPER	cis	Esophagus Mucosa	GTEx
rs2137311	SCAPER	cis	Artery Tibial	GTEx
rs2137311	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs2137311	SCAPER	cis	Whole Blood	GTEx
rs2137311	SCAPER	cis	lung	GTEx
rs2137311	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs2137311	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs2137311	SCAPER	cis	Thyroid	GTEx
rs2137311	SCAPER	cis	Adipose Subcutaneous	GTEx
rs2137311	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77073000-77125000	Weak transcription	Pancreas	Pancrea
2	chr15:77085400-77125000	Weak transcription	HSMM	muscle
3	chr15:77092800-77124800	Weak transcription	Ovary	ovary
4	chr15:77093200-77124800	Weak transcription	Primary B cells from cord blood	blood
5	chr15:77096200-77116400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:77096400-77116400	Weak transcription	Brain Angular Gyrus	brain
7	chr15:77096600-77124800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:77101200-77124800	Weak transcription	Aorta	Aorta
9	chr15:77108000-77116600	Weak transcription	Left Ventricle	heart
10	chr15:77108000-77123600	Weak transcription	Psoas Muscle	Psoas
11	chr15:77108200-77123400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:77111000-77116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:77111600-77116600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:77111600-77118000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:77111600-77125200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:77111600-77141200	Weak transcription	Thymus	Thymus
17	chr15:77111600-77144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:77111800-77116400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:77111800-77124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:77111800-77141600	Weak transcription	Fetal Thymus	thymus
22	chr15:77112000-77123200	Weak transcription	Fetal Intestine Small	intestine
23	chr15:77112200-77124000	Weak transcription	Fetal Intestine Large	intestine
24	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:77112600-77116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:77113600-77123200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:77113600-77123400	Weak transcription	Dnd41	blood
28	chr15:77113800-77116400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:77113800-77124800	Weak transcription	Primary T cells from cord blood	blood
30	chr15:77113800-77124800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:77114000-77124800	Weak transcription	Fetal Stomach	stomach

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