Variant report

Variant	rs17115542
Chromosome Location	chr12:76117123-76117124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76090412..76092067-chr12:76116200..76118127,2	MCF-7	breast:
2	chr12:76116513..76117347-chr5:118323995..118324569,2	NB4	blood:
3	chr12:76115281..76117362-chr12:76425033..76427406,3	MCF-7	breast:
4	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
5	chr12:76111051..76121376-chr12:76416110..76428653,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000169570	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1147996	1.00[ASN][1000 genomes]
rs1275473	1.00[ASN][1000 genomes]
rs1275475	1.00[ASN][1000 genomes]
rs1295819	1.00[ASN][1000 genomes]
rs1679383	1.00[ASN][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76113200-76117400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76113200-76118000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:76113400-76117600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:76113600-76117600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:76113600-76117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:76113600-76118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:76113600-76120000	Enhancers	Fetal Stomach	stomach
8	chr12:76113600-76120200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:76114000-76117800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:76114000-76118800	Weak transcription	Esophagus	oesophagus
11	chr12:76114000-76119800	Enhancers	Fetal Muscle Leg	muscle
12	chr12:76114000-76120000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:76114200-76117200	Enhancers	Fetal Brain Female	brain
14	chr12:76114200-76117400	Enhancers	Right Ventricle	heart
15	chr12:76114200-76117400	Enhancers	HepG2	liver
16	chr12:76114200-76117600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:76114200-76117600	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:76114200-76119200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:76114200-76119800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:76114200-76120200	Enhancers	NHLF	lung
21	chr12:76114400-76117200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:76114400-76117400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:76114400-76117400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:76114400-76117400	Enhancers	Brain Hippocampus Middle	brain
25	chr12:76114400-76117400	Enhancers	Brain Substantia Nigra	brain
26	chr12:76114400-76117400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:76114400-76117400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:76114400-76117600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:76114400-76117600	Bivalent Enhancer	Fetal Lung	lung
30	chr12:76114400-76117600	Enhancers	HSMMtube	muscle
31	chr12:76114400-76119600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:76114400-76121200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:76114600-76117200	Enhancers	Brain Angular Gyrus	brain
34	chr12:76114600-76117200	Enhancers	Brain Anterior Caudate	brain
35	chr12:76114600-76117200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:76114600-76117400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:76114600-76117400	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:76114600-76117400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:76114600-76117400	Enhancers	HSMM	muscle
40	chr12:76114600-76117400	Enhancers	Osteobl	bone
41	chr12:76114600-76117800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:76114600-76117800	Enhancers	Small Intestine	intestine
43	chr12:76114600-76118400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:76114600-76118400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:76114600-76118600	Enhancers	NHDF-Ad	bronchial
46	chr12:76114600-76120000	Enhancers	NH-A	brain
47	chr12:76114600-76120200	Enhancers	HUVEC	blood vessel
48	chr12:76114800-76117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:76114800-76117200	Enhancers	Stomach Mucosa	stomach
50	chr12:76114800-76117400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links