Variant report

Variant	rs12344624
Chromosome Location	chr9:78989241-78989242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:78981679..78983727-chr9:78987229..78989632,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10114106	1.00[AMR][1000 genomes]
rs10429486	0.83[AMR][1000 genomes]
rs12345882	0.87[AFR][1000 genomes]
rs12347130	0.87[AFR][1000 genomes]
rs12351053	1.00[AMR][1000 genomes]
rs12352057	1.00[AMR][1000 genomes]
rs28620970	1.00[AMR][1000 genomes]
rs73650207	1.00[AMR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
3	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart
5	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:78985000-78989800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:78985600-78989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:78986000-78990400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:78986800-78990400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:78986800-78990600	Enhancers	Liver	Liver
13	chr9:78986800-78990800	Enhancers	Fetal Intestine Large	intestine
14	chr9:78986800-78990800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:78986800-78991000	Enhancers	Fetal Stomach	stomach
16	chr9:78987000-78989400	Weak transcription	Lung	lung
17	chr9:78987000-78990000	Enhancers	Small Intestine	intestine
18	chr9:78987000-78990200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr9:78987000-78990600	Enhancers	Colon Smooth Muscle	Colon
20	chr9:78987000-78990600	Enhancers	Fetal Intestine Small	intestine
21	chr9:78987000-78990600	Enhancers	HepG2	liver
22	chr9:78987000-78991000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:78987200-78989400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:78987200-78990400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:78987200-78991200	Enhancers	Stomach Mucosa	stomach
26	chr9:78987400-78989600	Weak transcription	HUVEC	blood vessel
27	chr9:78987400-78990000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:78987600-79007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:78988000-78989800	Enhancers	Aorta	Aorta
30	chr9:78988000-78990400	Enhancers	Fetal Muscle Leg	muscle
31	chr9:78988200-78989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:78988200-78989800	Weak transcription	Esophagus	oesophagus
33	chr9:78988200-78989800	Weak transcription	Placenta	Placenta
34	chr9:78988200-78989800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:78988200-78990000	Weak transcription	HSMM	muscle
36	chr9:78988200-78993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:78988200-79002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:78988200-79003200	Weak transcription	HSMMtube	muscle
39	chr9:78988200-79008400	Weak transcription	Brain Substantia Nigra	brain
40	chr9:78988200-79008400	Weak transcription	Fetal Heart	heart
41	chr9:78988400-78989600	Weak transcription	NHDF-Ad	bronchial
42	chr9:78988400-78989800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:78988400-78989800	Weak transcription	Right Atrium	heart
44	chr9:78988400-78990000	Weak transcription	Adipose Nuclei	Adipose
45	chr9:78988400-78990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:78988400-78999000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr9:78988400-78999000	Weak transcription	Spleen	Spleen
48	chr9:78988400-78999600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:78988400-79002200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:78988600-78989400	Weak transcription	Rectal Smooth Muscle	rectum

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