Variant report

Variant	rs36082506
Chromosome Location	chr12:59479644-59479645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59312732..59314963-chr12:59478479..59481283,2	MCF-7	breast:
2	chr12:59301019..59303651-chr12:59478405..59481329,2	MCF-7	breast:
3	chr12:59479101..59479887-chr6:136172579..136173303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139263	Chromatin interaction
ENSG00000171408	Chromatin interaction
ENSG00000257443	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1023797	0.81[EUR][1000 genomes]
rs11172909	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12367511	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1500033	0.81[EUR][1000 genomes]
rs1500034	0.81[EUR][1000 genomes]
rs17628272	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1846623	0.81[EUR][1000 genomes]
rs1846624	0.81[EUR][1000 genomes]
rs6581231	0.82[EUR][1000 genomes]
rs6581232	0.82[EUR][1000 genomes]
rs7136863	0.81[EUR][1000 genomes]
rs7952875	0.83[EUR][1000 genomes]
rs7953477	0.83[EUR][1000 genomes]
rs7957634	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs908394	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
2	chr12:59471800-59480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:59476200-59480400	Enhancers	Fetal Intestine Small	intestine
4	chr12:59477000-59480200	Enhancers	Fetal Stomach	stomach
5	chr12:59477200-59480000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:59477400-59480800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:59477600-59479800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:59477600-59480600	Enhancers	Fetal Lung	lung
9	chr12:59477600-59480600	Enhancers	Stomach Mucosa	stomach
10	chr12:59477600-59480800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:59477600-59480800	Enhancers	Fetal Kidney	kidney
12	chr12:59477600-59480800	Enhancers	NHDF-Ad	bronchial
13	chr12:59477600-59480800	Enhancers	NHLF	lung
14	chr12:59477600-59481400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:59477800-59480600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:59477800-59480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:59477800-59480800	Enhancers	HMEC	breast
18	chr12:59478000-59480600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:59478000-59480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:59478200-59479800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:59478200-59480400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:59478200-59480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:59478600-59479800	Enhancers	Brain Germinal Matrix	brain
24	chr12:59478600-59482400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:59478800-59479800	Enhancers	Colon Smooth Muscle	Colon
26	chr12:59478800-59480800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:59479000-59479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:59479000-59480000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:59479000-59480000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:59479000-59480000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:59479000-59480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:59479000-59480400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:59479000-59480600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:59479000-59480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:59479000-59480800	Enhancers	NH-A	brain
36	chr12:59479000-59481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:59479000-59482400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:59479000-59494200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:59479200-59480200	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:59479200-59489600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:59479400-59479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:59479400-59479800	Weak transcription	HUVEC	blood vessel
43	chr12:59479400-59479800	Weak transcription	NHEK	skin
44	chr12:59479400-59480000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:59479400-59482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:59479600-59480200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:59479600-59480400	Enhancers	Small Intestine	intestine
48	chr12:59479600-59480600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:59479600-59482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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