Variant report

Variant	rs1783826
Chromosome Location	chr11:57402964-57402965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57400118..57403539-chr11:57406028..57408341,3	K562	blood:
2	chr11:57401546..57403081-chr11:57407206..57409367,2	K562	blood:

Variant related genes	Relation type
ENSG00000208009	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10792110	0.89[JPT][hapmap]
rs10896644	1.00[JPT][hapmap]
rs10896649	0.89[JPT][hapmap]
rs11229109	0.89[JPT][hapmap]
rs11570176	1.00[JPT][hapmap]
rs11570181	1.00[JPT][hapmap]
rs1557522	0.87[AFR][1000 genomes]
rs1613592	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1631684	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1647394	0.81[AMR][1000 genomes]
rs1647396	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1647403	0.88[JPT][hapmap]
rs17455422	1.00[JPT][hapmap]
rs1783827	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1783828	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1783978	1.00[JPT][hapmap]
rs1783979	1.00[JPT][hapmap]
rs1783980	0.89[JPT][hapmap]
rs1783981	0.89[JPT][hapmap]
rs1783983	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1785498	0.88[JPT][hapmap]
rs1798172	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1798173	1.00[JPT][hapmap]
rs1798177	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2081362	0.83[ASN][1000 genomes]
rs2156638	0.89[JPT][hapmap]
rs2511993	0.83[ASN][1000 genomes]
rs2511994	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2511996	0.82[ASN][1000 genomes]
rs2926664	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2956981	1.00[JPT][hapmap]
rs3017889	1.00[JPT][hapmap]
rs36036499	1.00[JPT][hapmap]
rs4611222	0.89[JPT][hapmap]
rs627145	1.00[JPT][hapmap]
rs653889	1.00[JPT][hapmap]
rs665058	1.00[JPT][hapmap]
rs7117020	1.00[JPT][hapmap]
rs7120868	1.00[JPT][hapmap]
rs7947357	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs929934	0.89[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1783826	YPEL4	cis	lung	GTEx
rs1783826	TIMM10	cis	Esophagus Mucosa	GTEx
rs1783826	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs1783826	TIMM10	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57384400-57404800	Weak transcription	Fetal Lung	lung
2	chr11:57387600-57405200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57389200-57404400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:57398600-57405200	Weak transcription	Liver	Liver
5	chr11:57400200-57403200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:57400600-57403800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:57401000-57403000	Enhancers	HMEC	breast
8	chr11:57401000-57403000	Enhancers	NHEK	skin
9	chr11:57401000-57405000	Weak transcription	Right Atrium	heart
10	chr11:57401600-57403000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:57401600-57404600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:57402600-57403000	Enhancers	Hela-S3	cervix
13	chr11:57402800-57404400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:57402800-57404600	Weak transcription	Placenta	Placenta
15	chr11:57402800-57404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:57402800-57405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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