Variant report

Variant	rs214672
Chromosome Location	chr12:47671905-47671906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47474204..47478207-chr12:47669855..47672780,4	MCF-7	breast:
2	chr12:47471765..47474146-chr12:47669770..47673206,3	MCF-7	breast:
3	chr12:47638824..47640995-chr12:47669800..47672022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs214652	1.00[LWK][hapmap]
rs214667	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214668	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214669	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214671	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214714	0.82[AMR][1000 genomes]
rs214727	0.85[JPT][hapmap];0.95[MEX][hapmap]
rs214734	0.95[MEX][hapmap]
rs855164	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs214672	C12orf68	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47660600-47673800	Enhancers	HMEC	breast
2	chr12:47665000-47675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:47666200-47672200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:47668000-47672800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47668600-47672800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:47668600-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:47668800-47672800	Enhancers	Small Intestine	intestine
8	chr12:47668800-47673400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:47669000-47672400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:47669200-47673600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47669400-47672000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:47669800-47672000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:47669800-47672000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47669800-47672000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:47669800-47672000	Enhancers	Fetal Thymus	thymus
16	chr12:47669800-47672200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:47670000-47672000	Enhancers	Colonic Mucosa	Colon
18	chr12:47670000-47672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:47670000-47672600	Enhancers	Stomach Mucosa	stomach
20	chr12:47670000-47672800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:47670000-47672800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:47670000-47672800	Enhancers	HUVEC	blood vessel
23	chr12:47670000-47673000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:47670000-47673000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:47670000-47673400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:47670200-47672000	Enhancers	Lung	lung
27	chr12:47670200-47672800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:47670200-47673000	Enhancers	Fetal Intestine Small	intestine
29	chr12:47670400-47672000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:47670400-47672000	Enhancers	Adipose Nuclei	Adipose
31	chr12:47670400-47672000	Enhancers	Fetal Lung	lung
32	chr12:47670400-47672000	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:47670400-47672000	Flanking Active TSS	A549	lung
34	chr12:47670400-47672800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:47670400-47672800	Enhancers	HSMM	muscle
36	chr12:47670400-47672800	Enhancers	NH-A	brain
37	chr12:47670600-47672000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:47670600-47672000	Enhancers	Pancreas	Pancrea
39	chr12:47670600-47672000	Enhancers	NHLF	lung
40	chr12:47670600-47672800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:47670600-47672800	Enhancers	Osteobl	bone
42	chr12:47670800-47672000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:47670800-47672000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:47670800-47672000	Enhancers	Fetal Intestine Large	intestine
45	chr12:47670800-47672000	Enhancers	Placenta	Placenta
46	chr12:47670800-47672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:47670800-47672600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:47670800-47673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:47670800-47673400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:47671000-47672000	Enhancers	Esophagus	oesophagus

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