Variant report

Variant	rs12348814
Chromosome Location	chr9:79076568-79076569
allele	C/T
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	chr9:79074775..79077434-chr9:79117333..79119392,2	MCF-7	breast:
4	chr17:56735034..56736816-chr9:79074402..79076618,2	MCF-7	breast:
5	chr9:79014853..79017600-chr9:79074234..79077178,2	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11144912	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12345685	0.91[AFR][1000 genomes]
rs6560523	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7032380	0.91[AFR][1000 genomes]
rs7046153	0.91[AFR][1000 genomes]
rs71499155	0.85[EUR][1000 genomes]
rs71509882	0.91[ASN][1000 genomes]
rs7854501	0.91[AFR][1000 genomes]
rs7867919	0.84[AMR][1000 genomes];0.82[EUR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79073600-79076600	Active TSS	Duodenum Mucosa	Duodenum
2	chr9:79073800-79077000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr9:79073800-79077200	Active TSS	Fetal Intestine Large	intestine
4	chr9:79075200-79077200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:79075200-79085200	Weak transcription	Esophagus	oesophagus
6	chr9:79075200-79087200	Weak transcription	Spleen	Spleen
7	chr9:79075400-79076800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:79075400-79078400	Enhancers	Fetal Brain Male	brain
9	chr9:79075400-79079800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:79075400-79080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:79075400-79086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:79075400-79086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:79075400-79087200	Weak transcription	Colonic Mucosa	Colon
14	chr9:79075400-79089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:79075400-79090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:79075400-79101000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:79075600-79076600	Weak transcription	Right Atrium	heart
18	chr9:79075600-79077600	Active TSS	Fetal Stomach	stomach
19	chr9:79075600-79077600	Transcr. at gene 5' and 3'	Osteobl	bone
20	chr9:79075600-79078600	Weak transcription	Small Intestine	intestine
21	chr9:79075600-79080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:79075600-79083800	Enhancers	Primary B cells from peripheral blood	blood
23	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
24	chr9:79075800-79077200	Enhancers	Primary B cells from cord blood	blood
25	chr9:79075800-79078800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:79075800-79079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:79075800-79080400	Weak transcription	Fetal Thymus	thymus
28	chr9:79075800-79080600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:79076000-79076800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:79076000-79076800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:79076000-79076800	Weak transcription	Stomach Mucosa	stomach
32	chr9:79076000-79077200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:79076000-79077600	Enhancers	Primary hematopoietic stem cells	blood
34	chr9:79076000-79078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:79076000-79078200	Weak transcription	Gastric	stomach
36	chr9:79076000-79083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:79076000-79084000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr9:79076000-79087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:79076000-79088000	Weak transcription	NHDF-Ad	bronchial
40	chr9:79076200-79076600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:79076200-79076600	Enhancers	HMEC	breast
42	chr9:79076200-79076800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:79076200-79076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:79076200-79076800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:79076200-79076800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr9:79076200-79076800	Enhancers	GM12878-XiMat	blood
47	chr9:79076200-79077000	Weak transcription	HSMM	muscle
48	chr9:79076200-79077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:79076200-79077200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:79076200-79077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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