Variant report

Variant	rs2795488
Chromosome Location	chr9:100904463-100904464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100902736..100906397-chr9:100952315..100956242,4	MCF-7	breast:
2	chr9:100873048..100875897-chr9:100904361..100905937,2	K562	blood:
3	chr9:100881189..100883568-chr9:100903286..100905158,2	MCF-7	breast:
4	chr9:100903564..100906226-chr9:100906830..100909481,2	K562	blood:
5	chr9:100745228..100747778-chr9:100904409..100906954,2	MCF-7	breast:
6	chr9:100901779..100904656-chr9:100906952..100909811,2	MCF-7	breast:
7	chr9:100904052..100906384-chr9:100906419..100908884,3	MCF-7	breast:
8	chr9:100904363..100909870-chr9:100951511..100957548,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12554318	1.00[ASN][1000 genomes]
rs12554940	1.00[ASN][1000 genomes]
rs2795486	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985030	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34709283	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34891516	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893613	chr9:100885779-100943397	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100882000-100917000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:100882200-100905600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:100882600-100915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:100883000-100926400	Weak transcription	Small Intestine	intestine
5	chr9:100883800-100920000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:100884200-100908200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:100884200-100909600	Weak transcription	Right Atrium	heart
8	chr9:100884400-100921000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:100885200-100926200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr9:100889200-100930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:100891000-100904600	Weak transcription	HMEC	breast
12	chr9:100891000-100920600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:100891000-100930800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:100892200-100920800	Weak transcription	Fetal Brain Female	brain
15	chr9:100892200-100926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:100892400-100908200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:100893400-100910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:100895800-100908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:100896000-100905200	Weak transcription	Colonic Mucosa	Colon
20	chr9:100896000-100905400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:100896000-100907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:100896000-100907800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:100896000-100931000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:100897400-100908200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:100897400-100917000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:100897400-100918600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:100897800-100904600	Weak transcription	Spleen	Spleen
28	chr9:100898400-100904800	Weak transcription	Fetal Stomach	stomach
29	chr9:100898400-100916800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:100898400-100931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:100899000-100904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:100899200-100906600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:100899200-100930600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:100900000-100906600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr9:100900200-100911000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:100900200-100918200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr9:100900400-100905800	Weak transcription	Primary T cells from cord blood	blood
38	chr9:100900400-100905800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:100900400-100907200	Weak transcription	Thymus	Thymus
40	chr9:100900400-100907600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:100900400-100910800	Weak transcription	K562	blood
42	chr9:100900400-100918800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:100900400-100919000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:100901600-100907600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr9:100902400-100905600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:100902600-100904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:100904000-100905000	Enhancers	GM12878-XiMat	blood
48	chr9:100904200-100909600	Enhancers	Liver	Liver
49	chr9:100904200-100910400	Genic enhancers	Fetal Intestine Small	intestine
50	chr9:100904400-100904600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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