Variant report

Variant	rs1252411
Chromosome Location	chr12:67666331-67666332
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67639415..67642144-chr12:67665487..67667188,2	MCF-7	breast:
2	chr12:67665523..67668331-chr12:67690936..67692642,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1066392	1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AMR][1000 genomes]
rs1082704	1.00[AMR][1000 genomes]
rs1082705	1.00[AMR][1000 genomes]
rs1082706	1.00[AMR][1000 genomes]
rs1143757	1.00[AMR][1000 genomes]
rs1143946	1.00[AMR][1000 genomes]
rs1143955	1.00[AMR][1000 genomes]
rs1152891	1.00[AMR][1000 genomes]
rs1152899	1.00[AMR][1000 genomes]
rs1152903	1.00[AMR][1000 genomes]
rs1186260	1.00[AMR][1000 genomes]
rs1252363	1.00[AMR][1000 genomes]
rs1252409	1.00[AMR][1000 genomes]
rs1252420	1.00[AMR][1000 genomes]
rs1392588	1.00[AMR][1000 genomes]
rs1392589	1.00[AMR][1000 genomes]
rs1658782	1.00[AMR][1000 genomes]
rs1697249	1.00[AMR][1000 genomes]
rs1732541	1.00[AMR][1000 genomes]
rs710621	1.00[AMR][1000 genomes]
rs710799	1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs775311	1.00[AMR][1000 genomes]
rs775625	1.00[AMR][1000 genomes]
rs775627	1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AMR][1000 genomes]
rs775643	1.00[AMR][1000 genomes]
rs775649	1.00[AMR][1000 genomes]
rs775664	1.00[AMR][1000 genomes]
rs812882	1.00[AMR][1000 genomes]
rs812883	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664400-67666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:67664400-67666600	Weak transcription	Lung	lung
3	chr12:67664400-67666600	Weak transcription	Small Intestine	intestine
4	chr12:67664400-67666600	Weak transcription	Spleen	Spleen
5	chr12:67664400-67666800	Enhancers	Brain Substantia Nigra	brain
6	chr12:67664400-67669000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:67664400-67669200	Weak transcription	Gastric	stomach
8	chr12:67664400-67669400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:67664600-67666600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:67664800-67666600	Enhancers	Brain Hippocampus Middle	brain
12	chr12:67664800-67666800	Enhancers	Primary B cells from cord blood	blood
13	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
15	chr12:67665200-67666400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:67665200-67666400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:67665200-67666400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:67665200-67666400	Weak transcription	Left Ventricle	heart
19	chr12:67665200-67666400	Weak transcription	Ovary	ovary
20	chr12:67665200-67666400	Weak transcription	Pancreas	Pancrea
21	chr12:67665200-67666600	Weak transcription	Psoas Muscle	Psoas
22	chr12:67665200-67666800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:67665200-67666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:67665200-67666800	Enhancers	Adipose Nuclei	Adipose
25	chr12:67665200-67666800	Enhancers	Fetal Heart	heart
26	chr12:67665200-67667000	Weak transcription	Fetal Thymus	thymus
27	chr12:67665200-67667200	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:67665200-67667400	Weak transcription	Stomach Mucosa	stomach
29	chr12:67665200-67667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:67665200-67668000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:67665200-67668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:67665200-67669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:67665200-67669400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
35	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
36	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
37	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
41	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
46	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:67665400-67667200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:67665400-67668200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:67665400-67669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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