Variant report

Variant	rs4745551
Chromosome Location	chr9:79075652-79075653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79006306..79009146-chr9:79074372..79076592,2	MCF-7	breast:
2	chr9:79073732..79077462-chr9:79257559..79261400,5	MCF-7	breast:
3	chr9:79062485..79063050-chr9:79074982..79075830,2	K562	blood:
4	chr9:79074775..79077434-chr9:79117333..79119392,2	MCF-7	breast:
5	chr17:56735034..56736816-chr9:79074402..79076618,2	MCF-7	breast:
6	chr9:79007540..79010172-chr9:79074126..79075718,2	MCF-7	breast:
7	chr9:79014853..79017600-chr9:79074234..79077178,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000135002	Chromatin interaction
ENSG00000106772	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10119532	0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs10735646	0.91[JPT][hapmap]
rs11144864	0.86[GIH][hapmap]
rs11144865	0.86[GIH][hapmap]
rs11144904	0.82[CEU][hapmap]
rs11144922	0.85[ASN][1000 genomes]
rs12237420	0.85[ASN][1000 genomes]
rs12344941	0.81[CHB][hapmap]
rs3739516	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs4526423	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4745552	0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs62565119	0.85[ASN][1000 genomes]
rs7019479	0.84[ASN][1000 genomes]
rs7465809	0.83[ASN][1000 genomes]
rs7858497	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs785936	0.95[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs7862822	0.83[ASN][1000 genomes]
rs7871849	0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.85[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	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79073400-79075800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr9:79073600-79075800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:79073600-79075800	Active TSS	HMEC	breast
4	chr9:79073600-79076200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:79073600-79076200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:79073600-79076600	Active TSS	Duodenum Mucosa	Duodenum
7	chr9:79073800-79075800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:79073800-79075800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:79073800-79075800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:79073800-79076000	Active TSS	Stomach Mucosa	stomach
11	chr9:79073800-79076200	Active TSS	Fetal Intestine Small	intestine
12	chr9:79073800-79077000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr9:79073800-79077200	Active TSS	Fetal Intestine Large	intestine
14	chr9:79074000-79075800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr9:79074000-79075800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:79074000-79075800	Active TSS	HSMM	muscle
17	chr9:79074000-79076000	Active TSS	Gastric	stomach
18	chr9:79074200-79075800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr9:79074600-79076000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr9:79074600-79076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:79074800-79076000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr9:79075000-79076000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:79075000-79076000	Flanking Active TSS	HUVEC	blood vessel
24	chr9:79075000-79076200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:79075000-79076200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:79075200-79076200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:79075200-79077200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:79075200-79085200	Weak transcription	Esophagus	oesophagus
29	chr9:79075200-79087200	Weak transcription	Spleen	Spleen
30	chr9:79075400-79075800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:79075400-79075800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr9:79075400-79075800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:79075400-79075800	Active TSS	Fetal Brain Female	brain
34	chr9:79075400-79075800	Enhancers	Fetal Thymus	thymus
35	chr9:79075400-79075800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:79075400-79075800	Enhancers	Hela-S3	cervix
37	chr9:79075400-79076000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr9:79075400-79076000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:79075400-79076000	Enhancers	Colon Smooth Muscle	Colon
40	chr9:79075400-79076000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr9:79075400-79076000	Bivalent Enhancer	HepG2	liver
42	chr9:79075400-79076000	Enhancers	HSMMtube	muscle
43	chr9:79075400-79076200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:79075400-79076200	Active TSS	GM12878-XiMat	blood
45	chr9:79075400-79076800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:79075400-79078400	Enhancers	Fetal Brain Male	brain
47	chr9:79075400-79079800	Weak transcription	Adipose Nuclei	Adipose
48	chr9:79075400-79080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:79075400-79086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:79075400-79086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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