Variant report

Variant	rs57699137
Chromosome Location	chr12:11914923-11914924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11905328..11907966-chr12:11912733..11915677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16907514	1.00[AMR][1000 genomes]
rs55977745	1.00[AMR][1000 genomes]
rs56140733	1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57833941	1.00[AMR][1000 genomes]
rs57891658	1.00[AMR][1000 genomes]
rs58453187	1.00[AMR][1000 genomes]
rs58842201	1.00[AMR][1000 genomes]
rs59632980	1.00[AMR][1000 genomes]
rs59843195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275248	1.00[AMR][1000 genomes]
rs73290521	1.00[AMR][1000 genomes]
rs73290524	1.00[AMR][1000 genomes]
rs73290599	1.00[AMR][1000 genomes]
rs74060863	1.00[AMR][1000 genomes]
rs74060864	1.00[AMR][1000 genomes]
rs74060865	1.00[AMR][1000 genomes]
rs74060867	1.00[AMR][1000 genomes]
rs74060875	1.00[AMR][1000 genomes]
rs74060876	1.00[AMR][1000 genomes]
rs74060879	1.00[AMR][1000 genomes]
rs74060881	1.00[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:11900600-11915000	Weak transcription	NHEK	skin
3	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
5	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:11906800-11915000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:11906800-11915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:11907000-11917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:11907600-11918200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:11907800-11915000	Weak transcription	HMEC	breast
11	chr12:11908000-11918800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:11908200-11918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:11908600-11915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:11909200-11915000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:11909200-11915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:11909200-11919400	Weak transcription	Liver	Liver
18	chr12:11909400-11915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:11909400-11915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:11909400-11915600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:11909400-11915800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:11909400-11916600	Weak transcription	NHDF-Ad	bronchial
23	chr12:11909600-11915000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:11909600-11915200	Weak transcription	Osteobl	bone
25	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
26	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:11910600-11916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:11911000-11915000	Weak transcription	Colonic Mucosa	Colon
29	chr12:11911000-11915200	Weak transcription	Esophagus	oesophagus
30	chr12:11911600-11915000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:11911800-11915000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:11911800-11915000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:11911800-11915200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:11912000-11915000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:11912000-11915000	Weak transcription	Placenta	Placenta
36	chr12:11912000-11915000	Weak transcription	Pancreas	Pancrea
37	chr12:11912000-11916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:11912000-11916600	Weak transcription	Fetal Kidney	kidney
39	chr12:11912000-11917600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:11912000-11918600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:11912400-11915000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:11912400-11915000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:11912400-11915000	Weak transcription	Lung	lung
44	chr12:11912400-11915000	Weak transcription	HUVEC	blood vessel
45	chr12:11912400-11915400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:11912400-11916400	Weak transcription	Fetal Lung	lung
47	chr12:11912400-11918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:11912400-11918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:11912400-11918800	Weak transcription	Ovary	ovary
50	chr12:11912600-11915000	Weak transcription	Rectal Mucosa Donor 29	rectum

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