Variant report

Variant	rs11180656
Chromosome Location	chr12:76118300-76118301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76111051..76121376-chr12:76416110..76428653,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275571	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2367075	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2886858	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4831913	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4831948	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6582300	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7304154	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7488278	0.82[EUR][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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76113600-76118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:76113600-76120000	Enhancers	Fetal Stomach	stomach
3	chr12:76113600-76120200	Enhancers	Rectal Smooth Muscle	rectum
4	chr12:76114000-76118800	Weak transcription	Esophagus	oesophagus
5	chr12:76114000-76119800	Enhancers	Fetal Muscle Leg	muscle
6	chr12:76114000-76120000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:76114200-76119200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:76114200-76119800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:76114200-76120200	Enhancers	NHLF	lung
10	chr12:76114400-76119600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:76114400-76121200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:76114600-76118400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:76114600-76118400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:76114600-76118600	Enhancers	NHDF-Ad	bronchial
15	chr12:76114600-76120000	Enhancers	NH-A	brain
16	chr12:76114600-76120200	Enhancers	HUVEC	blood vessel
17	chr12:76115200-76120000	Enhancers	HMEC	breast
18	chr12:76115400-76118800	Weak transcription	Ovary	ovary
19	chr12:76115400-76121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:76115600-76118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:76115600-76118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:76115800-76118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:76115800-76120000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:76115800-76121000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:76116200-76118400	Weak transcription	Left Ventricle	heart
26	chr12:76116400-76118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:76116400-76118600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:76116600-76119400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:76116600-76120000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:76116800-76118800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:76117000-76118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:76117000-76118400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:76117000-76118600	Weak transcription	Fetal Heart	heart
34	chr12:76117000-76118800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:76117200-76118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:76117200-76118400	Weak transcription	K562	blood
37	chr12:76117200-76119400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:76117400-76118400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:76117400-76118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:76117400-76118400	Weak transcription	Adipose Nuclei	Adipose
41	chr12:76117400-76118400	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:76117400-76118400	Weak transcription	Fetal Kidney	kidney
43	chr12:76117400-76118400	Weak transcription	HepG2	liver
44	chr12:76117400-76118400	Weak transcription	HSMM	muscle
45	chr12:76117400-76118400	Weak transcription	NHEK	skin
46	chr12:76117400-76118400	Weak transcription	Osteobl	bone
47	chr12:76117400-76118600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:76117400-76118600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:76117400-76118600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:76117400-76118600	Weak transcription	Brain Hippocampus Middle	brain

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