Variant report

Variant	rs10993697
Chromosome Location	chr9:93575966-93575967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93566130..93568297-chr9:93575356..93577751,2	K562	blood:
2	chr9:93566139..93567654-chr9:93575721..93577420,2	MCF-7	breast:
3	chr9:93573891..93575434-chr9:93575492..93578203,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10821508	0.88[ASN][1000 genomes]
rs10993696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10993698	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788207	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs12551275	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs12553524	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs1460834	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs1460835	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs16906825	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs16906859	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17488335	0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs17566858	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2042983	0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2042984	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2115484	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2115485	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2126051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2162977	0.88[ASN][1000 genomes]
rs290233	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs290240	0.92[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs290241	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3789890	0.88[ASN][1000 genomes]
rs3789891	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs3789892	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs3789893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4002564	0.85[ASN][1000 genomes]
rs4002565	0.85[ASN][1000 genomes]
rs4002566	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4501705	0.88[ASN][1000 genomes]
rs56955255	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58668584	0.88[ASN][1000 genomes]
rs61495376	0.89[ASN][1000 genomes]
rs62554850	0.88[ASN][1000 genomes]
rs7020331	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7032733	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs7046173	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7046193	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7046316	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs72729008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72729009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72729010	0.99[ASN][1000 genomes]
rs72729013	1.00[ASN][1000 genomes]
rs72729020	0.91[ASN][1000 genomes]
rs72729022	0.91[ASN][1000 genomes]
rs72729024	0.86[ASN][1000 genomes]
rs72729025	0.83[ASN][1000 genomes]
rs72729026	0.86[ASN][1000 genomes]
rs72746350	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv893569	chr9:93552550-93587089	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10993697	IPPK	cis	cerebellum	SCAN
rs10993697	SYK	cis	Thyroid	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93565400-93577000	Weak transcription	Colonic Mucosa	Colon
3	chr9:93567800-93584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:93567800-93584800	Weak transcription	Fetal Intestine Large	intestine
5	chr9:93567800-93597400	Weak transcription	Gastric	stomach
6	chr9:93568400-93576600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:93571200-93576200	Genic enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:93571200-93576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:93571400-93576600	Weak transcription	Small Intestine	intestine
10	chr9:93571400-93576800	Weak transcription	Primary T cells from cord blood	blood
11	chr9:93571800-93577600	Weak transcription	Fetal Kidney	kidney
12	chr9:93572000-93576000	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr9:93572600-93591000	Weak transcription	Lung	lung
14	chr9:93572800-93576800	Weak transcription	Esophagus	oesophagus
15	chr9:93572800-93584800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:93573200-93576600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:93573200-93589600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:93573400-93577200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:93573600-93577000	Enhancers	Primary B cells from peripheral blood	blood
20	chr9:93574000-93577400	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:93574200-93577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:93574200-93577600	Weak transcription	HMEC	breast
23	chr9:93574600-93576000	Enhancers	Spleen	Spleen
24	chr9:93574600-93578000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:93574600-93578600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:93574600-93578800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:93574800-93576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:93574800-93577000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:93574800-93577400	Enhancers	GM12878-XiMat	blood
30	chr9:93574800-93580200	Weak transcription	Pancreas	Pancrea
31	chr9:93575000-93580600	Weak transcription	Stomach Mucosa	stomach
32	chr9:93575200-93580400	Weak transcription	Fetal Intestine Small	intestine
33	chr9:93575400-93576000	Genic enhancers	Fetal Stomach	stomach
34	chr9:93575400-93576400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr9:93575400-93577800	Enhancers	Primary B cells from cord blood	blood
36	chr9:93575800-93576000	Enhancers	K562	blood
37	chr9:93575800-93576200	Weak transcription	Thymus	Thymus
38	chr9:93575800-93576800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr9:93575800-93577000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr9:93575800-93577800	Enhancers	Fetal Thymus	thymus

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