Variant report

Variant	rs12465474
Chromosome Location	chr2:235152388-235152389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34795266	0.96[ASN][1000 genomes]
rs60055447	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61059868	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7572117	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834572	chr2:235146304-235333842	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235145200-235156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:235148800-235154400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:235149200-235154200	Enhancers	NH-A	brain
4	chr2:235149400-235152400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:235149400-235154400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:235149400-235155400	Enhancers	NHDF-Ad	bronchial
7	chr2:235149400-235171600	Enhancers	HMEC	breast
8	chr2:235150200-235152400	Enhancers	Osteobl	bone
9	chr2:235150600-235152400	Enhancers	HUVEC	blood vessel
10	chr2:235150800-235154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:235150800-235155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:235150800-235156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:235151000-235156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:235151200-235153200	Enhancers	Fetal Kidney	kidney
15	chr2:235151200-235154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:235151200-235156000	Enhancers	NHEK	skin
17	chr2:235151400-235152400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:235151400-235152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:235151400-235154200	Weak transcription	NHLF	lung
20	chr2:235151400-235154400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:235151400-235154400	Weak transcription	HSMMtube	muscle
22	chr2:235151400-235158200	Weak transcription	Hela-S3	cervix
23	chr2:235151400-235158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:235151600-235152600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:235151600-235152600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:235151600-235153200	Weak transcription	HSMM	muscle
27	chr2:235151600-235154400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:235151800-235152400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr2:235151800-235152400	Enhancers	Dnd41	blood
30	chr2:235152000-235152400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:235152200-235152400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:235152200-235153000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:235152200-235153200	Active TSS	A549	lung
34	chr2:235152200-235153400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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