Variant report

Variant	rs10992063
Chromosome Location	chr9:94486688-94486689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94484405..94487196-chr9:94488976..94490889,3	K562	blood:
2	chr9:94484329..94487574-chr9:94487693..94490602,4	K562	blood:
3	chr9:94422471..94424892-chr9:94484558..94488094,3	MCF-7	breast:
4	chr9:94479518..94481920-chr9:94486342..94488730,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10820899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992057	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992059	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992060	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992061	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13292198	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073735	0.81[JPT][hapmap]
rs4073736	0.81[JPT][hapmap]
rs41308940	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67857232	0.91[ASN][1000 genomes]
rs7467403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7869182	0.81[JPT][hapmap]
rs9409456	0.82[JPT][hapmap]
rs9409649	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv934276	chr9:94485858-94487406	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10992063	ECM2	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94477000-94487000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:94477200-94489800	Weak transcription	Right Atrium	heart
4	chr9:94477200-94496800	Weak transcription	NHLF	lung
5	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
6	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
8	chr9:94483400-94486800	Strong transcription	Colon Smooth Muscle	Colon
9	chr9:94483400-94489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:94483600-94487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:94483800-94489400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr9:94484200-94489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:94484400-94486800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:94484400-94487000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:94484400-94487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:94484400-94488200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:94484400-94488400	Strong transcription	Fetal Intestine Large	intestine
21	chr9:94484400-94489000	Strong transcription	Gastric	stomach
22	chr9:94484400-94489400	Strong transcription	Fetal Intestine Small	intestine
23	chr9:94484600-94487400	Weak transcription	K562	blood
24	chr9:94484600-94488600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:94484600-94488800	Weak transcription	Placenta	Placenta
26	chr9:94484600-94489000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:94484600-94489000	Strong transcription	Ovary	ovary
28	chr9:94484800-94487600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr9:94485000-94489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:94485200-94487000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:94485400-94489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:94485600-94487200	Strong transcription	Spleen	Spleen
33	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:94485800-94487400	Weak transcription	Fetal Lung	lung
35	chr9:94485800-94487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:94486000-94486800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:94486000-94487000	ZNF genes & repeats	Esophagus	oesophagus
39	chr9:94486000-94489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:94486200-94487000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:94486400-94487200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:94486600-94487400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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