Variant report

Variant	rs56140733
Chromosome Location	chr12:11979261-11979262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11972270..11974612-chr12:11976151..11979593,3	K562	blood:
2	chr12:11977943..11979982-chr12:11981933..11983586,2	K562	blood:

Extended variants
information (count: 25 )
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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312986	1.00[AMR][1000 genomes]
rs57699137	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59843195	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060865	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060881	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	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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11966400-11983000	Weak transcription	Colonic Mucosa	Colon
2	chr12:11967200-11982800	Weak transcription	Stomach Mucosa	stomach
3	chr12:11967400-11984000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:11967800-11980200	Weak transcription	Aorta	Aorta
5	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:11971000-11982200	Weak transcription	HepG2	liver
7	chr12:11971400-11986600	Weak transcription	Gastric	stomach
8	chr12:11973200-11980400	Weak transcription	Fetal Intestine Large	intestine
9	chr12:11974000-11979400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:11974600-11979400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:11974600-11981400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:11974800-11980200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:11974800-11982000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:11975400-11979800	Weak transcription	Fetal Heart	heart
16	chr12:11975400-11980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:11975400-11980400	Weak transcription	Pancreas	Pancrea
18	chr12:11975400-11981600	Weak transcription	Primary T cells from cord blood	blood
19	chr12:11975400-11982000	Weak transcription	Esophagus	oesophagus
20	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:11975800-11981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:11975800-11982000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:11975800-11982400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:11975800-11984200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:11976000-11979400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:11976000-11979600	Weak transcription	Fetal Kidney	kidney
31	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:11976200-11979400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:11976200-11979400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:11976200-11979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:11976200-11979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:11976200-11979600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:11976200-11979600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:11976200-11979600	Weak transcription	Right Ventricle	heart
39	chr12:11976200-11980200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:11976200-11983000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:11976200-11983000	Weak transcription	NHEK	skin
42	chr12:11976200-11983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:11976200-11985000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:11976200-11986800	Weak transcription	A549	lung
45	chr12:11976400-11979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:11976600-11980200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:11976600-11982000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:11976600-11982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:11976800-11979400	Weak transcription	NHDF-Ad	bronchial
50	chr12:11976800-11980000	Weak transcription	Fetal Brain Male	brain

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