Variant report

Variant	rs570212
Chromosome Location	chr9:79112701-79112702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1085341	0.85[ASN][1000 genomes]
rs11144929	0.95[CHB][hapmap]
rs11144942	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs11144944	0.80[CHB][hapmap]
rs11144945	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs1969980	0.95[CHB][hapmap]
rs2476940	0.85[ASN][1000 genomes]
rs2476941	0.85[ASN][1000 genomes]
rs4744794	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4745555	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs496253	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs503222	0.85[ASN][1000 genomes]
rs506579	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs536644	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs540427	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs553806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs553927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs566470	0.85[ASN][1000 genomes]
rs567111	0.89[YRI][hapmap]
rs570705	0.85[CHB][hapmap]
rs587111	0.85[ASN][1000 genomes]
rs587171	0.84[ASN][1000 genomes]
rs590666	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs608697	0.85[ASN][1000 genomes]
rs619429	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs620295	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs631887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs634064	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs684271	0.89[YRI][hapmap]
rs785927	0.82[ASN][1000 genomes]

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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
2	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:79081800-79117200	Weak transcription	Gastric	stomach
4	chr9:79082600-79117600	Weak transcription	NHLF	lung
5	chr9:79087600-79117400	Weak transcription	Colonic Mucosa	Colon
6	chr9:79089000-79116400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
8	chr9:79093600-79117200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:79093800-79116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:79093800-79117000	Weak transcription	HMEC	breast
11	chr9:79093800-79118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:79094200-79120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:79097200-79117200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:79101200-79116400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:79103800-79117200	Weak transcription	Lung	lung
16	chr9:79103800-79117800	Weak transcription	Thymus	Thymus
17	chr9:79104200-79117400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:79104400-79117400	Weak transcription	Small Intestine	intestine
19	chr9:79104600-79117600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:79105800-79117200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr9:79106200-79117200	Weak transcription	HUVEC	blood vessel
22	chr9:79106600-79115000	Weak transcription	Stomach Mucosa	stomach
23	chr9:79107000-79116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:79107600-79116400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:79108000-79117200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:79108200-79117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:79108400-79114400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:79108800-79117200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:79109000-79113000	Strong transcription	Osteobl	bone
30	chr9:79109000-79115400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:79109200-79117200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:79109200-79117200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:79109400-79113800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:79109400-79117200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:79109400-79117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:79110200-79116200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:79110400-79117400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:79110600-79113400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:79110600-79117000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr9:79110800-79113200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:79110800-79116600	Weak transcription	GM12878-XiMat	blood
42	chr9:79111200-79113600	Enhancers	HepG2	liver
43	chr9:79111200-79116400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:79111200-79116400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr9:79111400-79116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:79111600-79115200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:79111600-79115200	Weak transcription	Fetal Intestine Large	intestine
48	chr9:79111600-79116200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:79112000-79115400	Weak transcription	HSMM	muscle
50	chr9:79112000-79117800	Weak transcription	Fetal Intestine Small	intestine

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