Variant report

Variant	rs214734
Chromosome Location	chr12:47666647-47666648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47659506..47662375-chr12:47663793..47667034,3	K562	blood:
2	chr12:47664632..47667941-chr12:47669573..47673313,6	K562	blood:
3	chr12:47630600..47632989-chr12:47665227..47666754,2	K562	blood:
4	chr12:47664301..47667185-chr12:47668394..47670439,2	MCF-7	breast:
5	chr12:47660087..47663239-chr12:47665914..47669484,4	MCF-7	breast:
6	chr12:47472808..47476445-chr12:47664416..47668314,6	MCF-7	breast:
7	chr12:47664437..47666808-chr12:47679920..47681465,2	K562	blood:
8	chr12:47598762..47601784-chr12:47665654..47668413,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction
ENSG00000257925	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	0.95[MEX][hapmap]
rs214727	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]
rs214731	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47660600-47667600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:47660600-47673800	Enhancers	HMEC	breast
3	chr12:47661400-47668800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47661600-47670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:47662000-47667600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:47662200-47667600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:47662200-47670400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:47662400-47667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:47662600-47666800	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:47662600-47667400	Enhancers	NH-A	brain
11	chr12:47662600-47667600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:47662600-47667600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:47662600-47670000	Enhancers	Primary T cells from cord blood	blood
14	chr12:47662800-47667600	Enhancers	HSMM	muscle
15	chr12:47662800-47668400	Enhancers	HSMMtube	muscle
16	chr12:47663400-47667800	Enhancers	Hela-S3	cervix
17	chr12:47663600-47668800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:47663600-47669200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:47663600-47671000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:47663800-47670800	Weak transcription	Spleen	Spleen
21	chr12:47664000-47666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:47664000-47667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:47664000-47667400	Enhancers	Osteobl	bone
24	chr12:47664000-47668000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:47664600-47667000	Flanking Active TSS	A549	lung
26	chr12:47664600-47667400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:47664600-47667800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:47664600-47667800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:47664800-47669200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:47665000-47667200	Enhancers	NHDF-Ad	bronchial
31	chr12:47665000-47667400	Enhancers	NHEK	skin
32	chr12:47665000-47669200	Weak transcription	Fetal Thymus	thymus
33	chr12:47665000-47675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:47665200-47666800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:47665200-47667200	Flanking Active TSS	K562	blood
36	chr12:47665200-47668600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:47665200-47670400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:47665400-47667000	Enhancers	Brain Germinal Matrix	brain
39	chr12:47665400-47671200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:47665600-47666800	Enhancers	Fetal Brain Female	brain
41	chr12:47665600-47667800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:47665800-47667400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:47665800-47667600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr12:47666000-47666800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:47666000-47666800	Enhancers	Small Intestine	intestine
46	chr12:47666000-47667600	Enhancers	Fetal Lung	lung
47	chr12:47666000-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:47666200-47667000	Enhancers	Fetal Intestine Small	intestine
49	chr12:47666200-47667400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:47666200-47667800	Enhancers	Muscle Satellite Cultured Cells	--

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