Variant report

Variant	rs17818446
Chromosome Location	chr8:120833506-120833507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120833178..120836613-chr8:120842629..120845407,4	K562	blood:
2	chr8:120832935..120836320-chr8:120843396..120846756,3	MCF-7	breast:
3	chr8:120832794..120834658-chr8:120843363..120846062,2	MCF-7	breast:
4	chr8:120831261..120833687-chr8:120834923..120836702,2	K562	blood:
5	chr8:120833401..120835033-chr8:120838248..120840429,2	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10088205	0.86[ASN][1000 genomes]
rs10108101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11775062	0.92[ASN][1000 genomes]
rs11785572	0.85[ASN][1000 genomes]
rs11985347	0.85[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12156318	1.00[ASN][1000 genomes]
rs1355174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16893214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2063284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28394804	0.86[ASN][1000 genomes]
rs28490296	0.86[ASN][1000 genomes]
rs28551477	0.86[ASN][1000 genomes]
rs56180159	1.00[ASN][1000 genomes]
rs56366115	0.86[ASN][1000 genomes]
rs60145621	0.85[ASN][1000 genomes]
rs60917006	0.85[ASN][1000 genomes]
rs61438417	0.85[ASN][1000 genomes]
rs62526598	1.00[ASN][1000 genomes]
rs62526601	1.00[ASN][1000 genomes]
rs62526606	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526620	0.85[ASN][1000 genomes]
rs6469845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6469856	1.00[CHB][hapmap]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981251	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6987018	1.00[CHB][hapmap]
rs6987100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6987389	1.00[JPT][hapmap]
rs6988621	0.85[ASN][1000 genomes]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6995594	0.85[ASN][1000 genomes]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72690112	0.85[ASN][1000 genomes]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837894	1.00[JPT][hapmap]
rs7838465	1.00[ASN][1000 genomes]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297606	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17818446	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:120805200-120841400	Weak transcription	Gastric	stomach
3	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
4	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
5	chr8:120812800-120834200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
11	chr8:120813400-120835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
13	chr8:120813800-120835600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:120814400-120835600	Strong transcription	Dnd41	blood
16	chr8:120815200-120839800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:120815400-120836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:120815800-120836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:120815800-120843200	Weak transcription	Pancreas	Pancrea
20	chr8:120816800-120836800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:120817200-120836800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:120818000-120833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:120818400-120836800	Weak transcription	Lung	lung
24	chr8:120818600-120836800	Weak transcription	Spleen	Spleen
25	chr8:120818600-120837200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:120822000-120836800	Weak transcription	Aorta	Aorta
28	chr8:120822200-120833600	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:120823800-120842000	Strong transcription	Primary T cells from cord blood	blood
30	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:120824200-120836000	Strong transcription	Fetal Thymus	thymus
33	chr8:120824200-120843200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:120824400-120835000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:120824400-120842000	Strong transcription	Liver	Liver
36	chr8:120824800-120843200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:120825000-120836800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
39	chr8:120826600-120837200	Weak transcription	Fetal Kidney	kidney
40	chr8:120827000-120833600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:120827400-120835800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:120827600-120836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:120827600-120836800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:120827800-120837800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:120828000-120834200	Strong transcription	GM12878-XiMat	blood
46	chr8:120828000-120834800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:120828000-120835000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:120828200-120833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:120828200-120836800	Weak transcription	NHLF	lung
50	chr8:120828400-120835600	Strong transcription	K562	blood

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