Variant report

Variant	rs12507195
Chromosome Location	chr4:119962587-119962588
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119961660..119966741-chr4:120131496..120138495,10	MCF-7	breast:
2	chr4:119960403..119963318-chr4:120145478..120148032,2	MCF-7	breast:
3	chr4:119961926..119964707-chr4:120220265..120223511,3	MCF-7	breast:
4	chr4:119961771..119963428-chr4:119969203..119971294,2	MCF-7	breast:
5	chr4:119961537..119963870-chr4:120206398..120209055,3	MCF-7	breast:
6	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:
7	chr4:119961730..119963234-chr4:120129552..120131443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000164096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1037761	0.97[ASN][1000 genomes]
rs10518309	0.88[CHB][hapmap]
rs10518313	0.84[ASW][hapmap];0.93[LWK][hapmap]
rs17050104	0.88[CHB][hapmap]
rs17050127	0.84[ASN][1000 genomes]
rs17050145	1.00[MEX][hapmap]
rs17050195	1.00[MEX][hapmap]
rs3814060	1.00[CHB][hapmap]
rs60158411	0.84[ASN][1000 genomes]
rs60779416	0.84[ASN][1000 genomes]
rs6837925	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap]
rs6848910	0.84[ASN][1000 genomes]
rs749410	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9784533	0.84[ASW][hapmap];0.84[LWK][hapmap]

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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
4	chr4:119956600-119963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:119957200-119964000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:119957800-119962800	Weak transcription	Hela-S3	cervix
9	chr4:119958800-119970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:119959000-119963200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:119959200-119962600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:119959200-119963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:119959200-119964200	Enhancers	NHLF	lung
14	chr4:119959400-119962800	Enhancers	HSMMtube	muscle
15	chr4:119959400-119963200	Weak transcription	Stomach Mucosa	stomach
16	chr4:119959400-119963800	Enhancers	Osteobl	bone
17	chr4:119959800-119963400	Enhancers	NHEK	skin
18	chr4:119960000-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:119960000-119964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:119960200-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:119960200-119963000	Weak transcription	Aorta	Aorta
22	chr4:119960200-119964800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:119960400-119964200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:119960400-119965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:119960400-119965400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:119960600-119963000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:119960600-119963800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:119960600-119965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:119961000-119962600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:119961000-119963200	Enhancers	Brain Substantia Nigra	brain
31	chr4:119961000-119963200	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:119961000-119963600	Enhancers	Brain Hippocampus Middle	brain
33	chr4:119961200-119963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:119961200-119963400	Enhancers	A549	lung
35	chr4:119961200-119963600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:119961200-119964200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:119961400-119962600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:119961400-119963200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:119961600-119962800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:119961800-119962600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:119961800-119962600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:119961800-119962800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:119961800-119963200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:119961800-119963200	Enhancers	Adipose Nuclei	Adipose
45	chr4:119961800-119963200	Enhancers	Brain Angular Gyrus	brain
46	chr4:119961800-119963200	Enhancers	Fetal Heart	heart
47	chr4:119961800-119963200	Enhancers	Fetal Kidney	kidney
48	chr4:119961800-119963200	Enhancers	HMEC	breast
49	chr4:119961800-119963400	Enhancers	Liver	Liver
50	chr4:119961800-119964200	Enhancers	Rectal Mucosa Donor 31	rectum

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