Variant report

Variant	rs6918981
Chromosome Location	chr6:34238514-34238515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34215632..34219561-chr6:34237881..34242839,8	K562	blood:
2	chr6:34236991..34239302-chr6:34382683..34384856,2	K562	blood:

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1150777	0.90[CHD][hapmap];0.88[JPT][hapmap];0.80[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap]
rs1150779	0.90[CHD][hapmap];0.88[JPT][hapmap]
rs1150781	0.88[JPT][hapmap]
rs1307273	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13207853	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573905	0.85[CHD][hapmap];0.88[JPT][hapmap]
rs1690799	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1759637	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1759645	0.90[CHD][hapmap];0.83[MEX][hapmap]
rs1776890	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1776897	0.90[CHD][hapmap]
rs2483211	0.83[ASN][1000 genomes]
rs2780226	0.90[CHD][hapmap]
rs2797961	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2797967	0.83[ASN][1000 genomes]
rs4713765	0.88[JPT][hapmap]
rs55793253	0.81[EUR][1000 genomes]
rs6457769	0.88[JPT][hapmap]
rs6900387	0.81[AFR][1000 genomes]
rs6909732	0.85[CHD][hapmap];0.88[JPT][hapmap]
rs7742369	0.85[CHD][hapmap]
rs9366846	0.87[ASW][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs9394200	0.90[CHD][hapmap];0.88[JPT][hapmap]
rs9394201	0.81[ASN][1000 genomes]
rs9469761	0.88[JPT][hapmap]

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	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv969388	chr6:34213490-34240324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:3)

Disease	PMID	Source
Height	19396169	GWAS catalog
Height	19893584	GWAS catalog
Height	25429064	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34218200-34255000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:34227000-34241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:34228600-34247000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34228800-34239600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:34229000-34246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:34231200-34241000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34231200-34241200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:34231200-34246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:34231800-34239800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:34233000-34251800	Weak transcription	NHDF-Ad	bronchial
11	chr6:34233200-34245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:34234200-34247600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:34235800-34245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:34237000-34246600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:34238000-34240000	Weak transcription	Spleen	Spleen
16	chr6:34238200-34239400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:34238400-34239800	Weak transcription	K562	blood
18	chr6:34238400-34259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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