Variant report

Variant	rs7938115
Chromosome Location	chr11:59014658-59014659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1048444	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792228	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896953	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896956	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896958	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11229896	0.90[EUR][1000 genomes]
rs11229898	0.88[EUR][1000 genomes]
rs11229899	0.88[EUR][1000 genomes]
rs11600294	0.83[AMR][1000 genomes]
rs12280107	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17153461	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1938593	0.89[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1945592	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1945593	0.90[EUR][1000 genomes]
rs2000875	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2211912	0.82[YRI][hapmap]
rs3847	0.92[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4938915	0.91[EUR][1000 genomes]
rs4939260	0.89[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4939263	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939267	0.93[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4939269	0.80[MEX][hapmap]
rs5023474	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5023475	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61689139	0.90[EUR][1000 genomes]
rs656163	0.82[YRI][hapmap]
rs6591510	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6591515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591517	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7109866	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7111287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113607	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115130	0.82[GIH][hapmap]
rs7121247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7129035	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7129362	0.86[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers 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	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7938115	MPEG1	cis	Lymphoblastoid	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59011600-59014800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr11:59012200-59019200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:59013200-59015200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:59013200-59017000	Enhancers	Primary B cells from cord blood	blood
5	chr11:59013200-59017400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:59013400-59016600	Enhancers	Hela-S3	cervix
7	chr11:59014000-59016200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:59014200-59015600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:59014200-59015800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:59014200-59016400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:59014200-59016600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:59014400-59015600	Enhancers	Right Atrium	heart
13	chr11:59014400-59015800	Enhancers	HMEC	breast
14	chr11:59014400-59016000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:59014400-59016400	Enhancers	Primary T cells from cord blood	blood
16	chr11:59014400-59016400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:59014400-59016600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:59014600-59015000	Enhancers	Lung	lung
19	chr11:59014600-59015200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:59014600-59015600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:59014600-59015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:59014600-59015800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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