Variant report

Variant	rs214727
Chromosome Location	chr12:47663322-47663323
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47582918..47584527-chr12:47660728..47663353,2	MCF-7	breast:
2	chr12:47655434..47662792-chr12:47663087..47666435,9	K562	blood:
3	chr12:47608005..47610974-chr12:47661646..47664311,2	MCF-7	breast:
4	chr12:47477667..47479198-chr12:47660810..47663443,2	MCF-7	breast:
5	chr12:47661909..47664625-chr12:47668205..47670728,3	K562	blood:

Variant related genes	Relation type
ENSG00000247774	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs214672	0.85[JPT][hapmap];0.95[MEX][hapmap]
rs214731	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs214734	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47657200-47666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:47660600-47665200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47660600-47666000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:47660600-47667600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:47660600-47673800	Enhancers	HMEC	breast
6	chr12:47660800-47663600	ZNF genes & repeats	A549	lung
7	chr12:47661000-47665200	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:47661400-47664600	Enhancers	NHEK	skin
9	chr12:47661400-47668800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:47661600-47663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:47661600-47664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:47661600-47665400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:47661600-47670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:47662000-47663400	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:47662000-47664600	Enhancers	Primary B cells from cord blood	blood
16	chr12:47662000-47664600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:47662000-47665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:47662000-47667600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:47662200-47667600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:47662200-47670400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:47662400-47664200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:47662400-47664800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:47662400-47665400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:47662400-47667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:47662600-47663400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:47662600-47663600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:47662600-47663800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:47662600-47664000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:47662600-47665200	Enhancers	K562	blood
30	chr12:47662600-47666600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:47662600-47666800	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:47662600-47667400	Enhancers	NH-A	brain
33	chr12:47662600-47667600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:47662600-47667600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:47662600-47670000	Enhancers	Primary T cells from cord blood	blood
36	chr12:47662800-47663800	Enhancers	Spleen	Spleen
37	chr12:47662800-47664800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:47662800-47667600	Enhancers	HSMM	muscle
39	chr12:47662800-47668400	Enhancers	HSMMtube	muscle
40	chr12:47663000-47663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:47663000-47663400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:47663000-47663400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:47663000-47664000	Weak transcription	Osteobl	bone
44	chr12:47663200-47664000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:47663200-47666400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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