Variant report

Variant	rs13025483
Chromosome Location	chr2:72800656-72800657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72798438..72800996-chr2:72804039..72807217,3	K562	blood:
2	chr2:72797499..72799587-chr2:72800647..72803483,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11894152	1.00[CEU][hapmap]
rs13014663	1.00[CEU][hapmap]
rs17008355	1.00[CEU][hapmap]
rs2222142	1.00[CEU][hapmap]
rs71416753	1.00[EUR][1000 genomes]
rs7576726	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72775000-72808800	Weak transcription	Ovary	ovary
2	chr2:72784000-72800800	Weak transcription	Placenta	Placenta
3	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:72789200-72803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:72789400-72803400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:72789800-72803600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:72790000-72803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:72790000-72804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:72790200-72801400	Weak transcription	HepG2	liver
10	chr2:72795200-72803200	Weak transcription	Osteobl	bone
11	chr2:72796400-72803800	Weak transcription	HUVEC	blood vessel
12	chr2:72797200-72806800	Enhancers	A549	lung
13	chr2:72798200-72803400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:72798400-72803200	Weak transcription	HSMM	muscle
15	chr2:72798800-72800800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:72799400-72801000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:72799600-72800800	Enhancers	Fetal Heart	heart
18	chr2:72799600-72801400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:72799600-72802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:72799600-72803400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:72799600-72807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:72800000-72803400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:72800000-72803600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:72800400-72801000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:72800400-72803400	Weak transcription	HSMMtube	muscle
26	chr2:72800600-72800800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:72800600-72802200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:72800600-72803400	Weak transcription	NH-A	brain

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