Variant report

Variant	rs602075
Chromosome Location	chr9:79110160-79110161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10869781	0.94[AMR][1000 genomes]
rs11144908	0.90[AMR][1000 genomes]
rs11144909	0.90[AMR][1000 genomes]
rs2480213	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs502417	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57339182	0.90[AMR][1000 genomes]
rs62564446	0.88[AMR][1000 genomes]
rs62564449	0.90[AMR][1000 genomes]
rs62564454	0.92[AMR][1000 genomes]
rs785907	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs785914	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785915	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785916	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs785928	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[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:53 , 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	chr9:79093600-79111400	Weak transcription	NHDF-Ad	bronchial
9	chr9:79093600-79117200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:79093800-79116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:79093800-79117000	Weak transcription	HMEC	breast
12	chr9:79093800-79118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:79094200-79120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:79097200-79117200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:79101200-79116400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:79102200-79111400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:79103800-79117200	Weak transcription	Lung	lung
18	chr9:79103800-79117800	Weak transcription	Thymus	Thymus
19	chr9:79104200-79110400	Weak transcription	HSMM	muscle
20	chr9:79104200-79117400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:79104400-79117400	Weak transcription	Small Intestine	intestine
22	chr9:79104600-79117600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:79105800-79117200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr9:79106200-79117200	Weak transcription	HUVEC	blood vessel
25	chr9:79106600-79115000	Weak transcription	Stomach Mucosa	stomach
26	chr9:79107000-79116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:79107600-79110200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:79107600-79116400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:79108000-79117200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:79108200-79117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:79108400-79110600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:79108400-79114400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:79108800-79110400	Strong transcription	Primary B cells from cord blood	blood
34	chr9:79108800-79111400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:79108800-79111600	Strong transcription	Fetal Intestine Large	intestine
36	chr9:79108800-79117200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:79109000-79113000	Strong transcription	Osteobl	bone
38	chr9:79109000-79115400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:79109200-79111200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr9:79109200-79117200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:79109200-79117200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:79109400-79110400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:79109400-79110800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:79109400-79111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:79109400-79113800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:79109400-79117200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:79109400-79117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:79109600-79110600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr9:79109600-79110600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr9:79109800-79110200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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