Variant report

Variant	rs1718123
Chromosome Location	chr12:121708271-121708272
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	chr12:121706801..121708995-chr12:121713234..121716382,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11065513	0.86[ASN][1000 genomes]
rs1151885	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582752	0.88[ASN][1000 genomes]
rs12582753	0.88[ASN][1000 genomes]
rs1653606	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1718120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2230776	0.88[ASN][1000 genomes]
rs2668254	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2686347	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2948119	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817190	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4474520	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4474521	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4474522	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480616	0.97[ASN][1000 genomes]
rs61953430	0.95[ASN][1000 genomes]
rs6489803	0.89[ASN][1000 genomes]
rs6489804	0.95[ASN][1000 genomes]
rs7976126	0.85[ASN][1000 genomes]
rs9805130	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1718123	TAOK3	cis	parietal	SCAN
rs1718123	OASL	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
4	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
6	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:121679600-121713000	Strong transcription	Liver	Liver
10	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
11	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
17	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:121684800-121711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:121685200-121712400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121689000-121713000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:121690800-121714200	Strong transcription	Fetal Stomach	stomach
30	chr12:121691200-121716400	Weak transcription	Psoas Muscle	Psoas
31	chr12:121691400-121708600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:121691400-121709200	Strong transcription	Fetal Thymus	thymus
33	chr12:121694200-121708600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:121695400-121709000	Strong transcription	Lung	lung
35	chr12:121695400-121712600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121696000-121712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:121696000-121712600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:121696200-121709000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:121696400-121708800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:121696400-121714600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:121696600-121712600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:121697000-121713000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:121697600-121709200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:121699400-121708400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:121699800-121716600	Weak transcription	Stomach Mucosa	stomach
46	chr12:121699800-121717200	Weak transcription	Fetal Heart	heart
47	chr12:121701000-121713000	Strong transcription	Fetal Brain Female	brain
48	chr12:121701200-121709000	Strong transcription	Ovary	ovary
49	chr12:121701800-121711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:121702200-121710800	Weak transcription	Rectal Smooth Muscle	rectum

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