Variant report

Variant	rs10993698
Chromosome Location	chr9:93577781-93577782
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93566333..93568000-chr9:93577767..93579301,2	MCF-7	breast:
2	chr9:93560904..93565448-chr9:93577288..93580605,5	K562	blood:
3	chr9:93569272..93571391-chr9:93577022..93579806,2	K562	blood:
4	chr9:93561901..93563996-chr9:93577117..93579715,2	MCF-7	breast:
5	chr9:93560904..93565448-chr9:93577148..93580132,4	K562	blood:
6	chr9:93573891..93575434-chr9:93575492..93578203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165025	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10821508	0.88[ASN][1000 genomes]
rs10993696	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10993697	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];0.90[CHD][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs12553524	1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.85[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];0.86[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];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs290240	0.92[CHB][hapmap];0.83[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];0.90[CHD][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs3789893	1.00[AMR][1000 genomes];0.96[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];0.87[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];0.90[CHD][hapmap];0.92[JPT][hapmap];0.85[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];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72729009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10993698	IPPK	cis	cerebellum	SCAN
rs10993698	SYK	cis	Thyroid	GTEx
rs10993698	FAM120A	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93567800-93584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:93567800-93584800	Weak transcription	Fetal Intestine Large	intestine
4	chr9:93567800-93597400	Weak transcription	Gastric	stomach
5	chr9:93572600-93591000	Weak transcription	Lung	lung
6	chr9:93572800-93584800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:93573200-93589600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:93574600-93578000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:93574600-93578600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:93574600-93578800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:93574800-93580200	Weak transcription	Pancreas	Pancrea
12	chr9:93575000-93580600	Weak transcription	Stomach Mucosa	stomach
13	chr9:93575200-93580400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:93575400-93577800	Enhancers	Primary B cells from cord blood	blood
15	chr9:93575800-93577800	Enhancers	Fetal Thymus	thymus
16	chr9:93576200-93578400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr9:93576200-93579000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:93576400-93577800	Enhancers	Spleen	Spleen
19	chr9:93576400-93580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:93576600-93577800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:93576600-93578200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:93576600-93578800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:93576800-93577800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr9:93576800-93578000	Enhancers	Esophagus	oesophagus
25	chr9:93576800-93578200	Enhancers	Adipose Nuclei	Adipose
26	chr9:93576800-93578600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr9:93576800-93582400	Weak transcription	Small Intestine	intestine
28	chr9:93577000-93577800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr9:93577000-93577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:93577000-93577800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr9:93577000-93577800	Enhancers	Fetal Muscle Leg	muscle
32	chr9:93577000-93578000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:93577000-93578200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr9:93577000-93578200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:93577000-93578200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr9:93577000-93578600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:93577000-93585800	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr9:93577000-93598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:93577200-93577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:93577200-93578200	Enhancers	Fetal Lung	lung
41	chr9:93577200-93578600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:93577200-93589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:93577400-93577800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:93577400-93578000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:93577400-93578200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:93577400-93578200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr9:93577400-93578400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr9:93577400-93578400	Enhancers	Fetal Stomach	stomach
49	chr9:93577400-93578400	Flanking Active TSS	GM12878-XiMat	blood
50	chr9:93577400-93578400	Flanking Active TSS	K562	blood

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