Variant report

Variant	rs17125850
Chromosome Location	chr12:51874673-51874674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51873122..51874911-chr12:52023802..52025869,2	K562	blood:
2	chr12:51874563..51877279-chr12:51888735..51890254,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17125880	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2271150	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2279951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2292215	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292216	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34555885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57024323	0.88[ASN][1000 genomes]
rs57960673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60368956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61736806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7294353	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7301925	0.95[ASN][1000 genomes]
rs7958793	0.86[ASN][1000 genomes]
rs7959067	0.86[ASN][1000 genomes]
rs7971145	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7974113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv519438	chr12:51837789-51900105	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51839200-51876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:51843400-51876400	Weak transcription	Fetal Stomach	stomach
3	chr12:51843400-51881800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:51844400-51876600	Weak transcription	NHDF-Ad	bronchial
5	chr12:51844800-51876800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:51853400-51898600	Weak transcription	Fetal Brain Male	brain
7	chr12:51854600-51914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:51855200-51906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:51865200-51875000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:51865600-51914600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:51865800-51876800	Weak transcription	HUVEC	blood vessel
12	chr12:51866000-51876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51866400-51876400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:51867000-51874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:51867600-51876200	Weak transcription	Gastric	stomach
16	chr12:51867600-51906000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:51868000-51876800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:51869200-51876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:51869200-51876600	Weak transcription	NHLF	lung
20	chr12:51869400-51890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:51869600-51907400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:51869800-51890200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:51869800-51898000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:51869800-51898400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:51869800-51901400	Weak transcription	Brain Anterior Caudate	brain
26	chr12:51870000-51879000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:51870000-51891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:51870000-51912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:51870600-51890800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:51870800-51880000	Weak transcription	Brain Germinal Matrix	brain
31	chr12:51871600-51882400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:51871800-51880600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:51871800-51884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:51872600-51879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:51873000-51875400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:51873000-51879800	Weak transcription	Fetal Brain Female	brain
37	chr12:51873000-51880600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:51874400-51875600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:51874400-51879400	Enhancers	Primary T cells from cord blood	blood
40	chr12:51874600-51874800	Enhancers	Thymus	Thymus
41	chr12:51874600-51874800	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:51874600-51875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:51874600-51875600	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:51874600-51875600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:51874600-51876200	Enhancers	Dnd41	blood
46	chr12:51874600-51876800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:51874600-51878000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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