Variant report

Variant	rs13030456
Chromosome Location	chr2:180408734-180408735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10169569	1.00[JPT][hapmap]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11894850	1.00[JPT][hapmap]
rs12693194	1.00[JPT][hapmap]
rs12991713	1.00[JPT][hapmap]
rs13002104	1.00[ASN][1000 genomes]
rs13035596	1.00[JPT][hapmap]
rs13391592	1.00[CHD][hapmap]
rs1399692	1.00[JPT][hapmap]
rs1515297	1.00[JPT][hapmap]
rs1515298	1.00[JPT][hapmap]
rs16866782	1.00[JPT][hapmap]
rs17816271	1.00[JPT][hapmap]
rs2203459	1.00[JPT][hapmap]
rs2222032	0.85[JPT][hapmap]
rs3112931	1.00[JPT][hapmap]
rs4267476	1.00[JPT][hapmap]
rs4530328	1.00[JPT][hapmap]
rs6433796	1.00[JPT][hapmap]
rs6722937	0.86[JPT][hapmap]
rs71425637	1.00[ASN][1000 genomes]
rs7579911	1.00[JPT][hapmap]
rs868271	1.00[JPT][hapmap]
rs868273	1.00[JPT][hapmap]
rs868274	1.00[JPT][hapmap]
rs999000	1.00[JPT][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	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180403800-180409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180404000-180410000	Strong transcription	Liver	Liver
3	chr2:180404200-180409800	Weak transcription	Gastric	stomach
4	chr2:180405400-180410600	Enhancers	HepG2	liver
5	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
6	chr2:180407400-180408800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:180407800-180408800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:180407800-180410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:180408000-180408800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:180408000-180408800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:180408000-180408800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:180408000-180408800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:180408200-180408800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:180408200-180408800	Enhancers	Fetal Brain Female	brain
15	chr2:180408200-180409000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:180408200-180409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:180408200-180409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:180408400-180408800	Enhancers	Fetal Brain Male	brain
19	chr2:180408400-180408800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:180408400-180409000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:180408400-180409600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:180408400-180409600	Enhancers	Brain Germinal Matrix	brain
23	chr2:180408400-180410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:180408600-180408800	Enhancers	Fetal Kidney	kidney
26	chr2:180408600-180409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:180408600-180409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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