Variant report

Variant	rs17217845
Chromosome Location	chr12:106697802-106697803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
2	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
3	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
4	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
5	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
6	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166046	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10861572	0.80[EUR][1000 genomes]
rs11112920	1.00[CHB][hapmap]
rs12309973	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12579099	0.84[AMR][1000 genomes]
rs12814176	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12814523	1.00[ASN][1000 genomes]
rs12815560	1.00[ASN][1000 genomes]
rs12831519	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217810	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs17218455	0.83[LWK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2279759	0.83[CEU][hapmap]
rs34762209	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34826388	1.00[ASN][1000 genomes]
rs34855793	1.00[ASN][1000 genomes]
rs36010188	1.00[ASN][1000 genomes]
rs4964175	0.87[ASW][hapmap];0.85[AMR][1000 genomes]
rs4964177	1.00[ASN][1000 genomes]
rs4964463	1.00[ASN][1000 genomes]
rs56234907	1.00[ASN][1000 genomes]
rs61941947	1.00[ASN][1000 genomes]
rs6539267	0.82[AMR][1000 genomes]
rs7977927	1.00[CHB][hapmap]

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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17217845	C12orf23	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106695400-106698200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:106695600-106698000	Active TSS	Aorta	Aorta
3	chr12:106695600-106698200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:106696600-106698200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr12:106696800-106698000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:106696800-106698200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:106697000-106698000	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr12:106697000-106698200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr12:106697200-106698000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:106697200-106698000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:106697200-106698000	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:106697200-106698200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:106697200-106698200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:106697200-106698200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:106697200-106698200	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:106697200-106698600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:106697200-106698600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:106697200-106700000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:106697200-106700000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:106697200-106702600	Enhancers	Fetal Heart	heart
21	chr12:106697400-106698000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:106697400-106698000	Enhancers	Small Intestine	intestine
23	chr12:106697400-106698000	Flanking Active TSS	Hela-S3	cervix
24	chr12:106697400-106698200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:106697400-106698200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:106697400-106698200	Enhancers	Spleen	Spleen
27	chr12:106697400-106698200	Flanking Active TSS	HepG2	liver
28	chr12:106697400-106698400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:106697400-106698400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:106697400-106699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:106697600-106698000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:106697600-106698000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:106697600-106698000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:106697600-106698000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:106697600-106698000	Flanking Active TSS	Esophagus	oesophagus
36	chr12:106697600-106698000	Enhancers	Fetal Muscle Trunk	muscle
37	chr12:106697600-106698000	Flanking Active TSS	Fetal Stomach	stomach
38	chr12:106697600-106698000	Flanking Active TSS	Fetal Thymus	thymus
39	chr12:106697600-106698000	Flanking Active TSS	Pancreas	Pancrea
40	chr12:106697600-106698000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:106697600-106698000	Enhancers	HSMM	muscle
42	chr12:106697600-106698000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr12:106697600-106698000	Enhancers	NHLF	lung
44	chr12:106697600-106698000	Active TSS	Osteobl	bone
45	chr12:106697600-106698200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:106697600-106698200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:106697600-106698200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:106697600-106698200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:106697600-106698200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:106697600-106698200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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