Variant report

Variant	rs12819965
Chromosome Location	chr12:105774835-105774836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105765326..105767170-chr12:105773876..105775781,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10507190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861400	0.88[CEU][hapmap]
rs10861403	0.82[EUR][1000 genomes]
rs10861407	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10861409	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861411	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861412	0.94[EUR][1000 genomes]
rs10861413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861417	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861418	1.00[ASN][1000 genomes]
rs11112465	1.00[CHB][hapmap]
rs11112469	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11112475	0.88[CEU][hapmap]
rs11112482	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11112484	0.82[EUR][1000 genomes]
rs11112485	0.80[EUR][1000 genomes]
rs11112486	0.82[EUR][1000 genomes]
rs11112487	0.82[EUR][1000 genomes]
rs11112488	0.82[EUR][1000 genomes]
rs11112492	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112494	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112495	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112496	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112498	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112504	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112505	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112506	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611618	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12371845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12820423	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12829692	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12829741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12831150	0.88[EUR][1000 genomes]
rs17041538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2888846	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs34346262	0.82[EUR][1000 genomes]
rs6797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7131942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302174	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303242	1.00[CHB][hapmap]
rs73181878	0.94[EUR][1000 genomes]
rs7968892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645791	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12819965	C12orf75	cis	Artery Tibial	GTEx
rs12819965	C12orf75	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
2	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:105748000-105776600	Weak transcription	Gastric	stomach
6	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
7	chr12:105751200-105776800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:105751400-105775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:105752400-105776400	Weak transcription	Aorta	Aorta
10	chr12:105760000-105776600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:105762800-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:105763000-105776200	Weak transcription	HSMMtube	muscle
13	chr12:105763000-105776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:105763000-105776600	Weak transcription	Fetal Kidney	kidney
15	chr12:105763000-105776800	Weak transcription	Fetal Intestine Large	intestine
16	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
17	chr12:105765000-105776800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:105766400-105775200	Weak transcription	HUVEC	blood vessel
19	chr12:105766400-105777000	Weak transcription	GM12878-XiMat	blood
20	chr12:105766600-105776600	Weak transcription	HMEC	breast
21	chr12:105766800-105776400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:105767200-105776600	Weak transcription	Fetal Stomach	stomach
23	chr12:105767400-105776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:105767400-105776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:105767800-105776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:105768200-105775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:105768200-105776400	Weak transcription	NH-A	brain
28	chr12:105768400-105776400	Weak transcription	HSMM	muscle
29	chr12:105768400-105776600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:105768800-105776600	Weak transcription	NHEK	skin
31	chr12:105768800-105776800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:105769000-105776400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:105769000-105776800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:105769000-105778400	Weak transcription	Dnd41	blood
35	chr12:105769200-105776200	Weak transcription	Osteobl	bone
36	chr12:105769400-105776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:105769400-105776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:105771600-105776400	Weak transcription	A549	lung
39	chr12:105772400-105776200	Weak transcription	NHDF-Ad	bronchial
40	chr12:105773200-105776800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:105773400-105775400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:105773400-105776400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:105773400-105776400	Weak transcription	NHLF	lung
44	chr12:105773400-105776600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:105773400-105776600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:105773400-105776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:105773600-105776400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:105773600-105776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:105774200-105775400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:105774600-105775000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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