Variant report

Variant	rs17097355
Chromosome Location	chr12:47219436-47219437
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47212210..47214655-chr12:47216881..47219489,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11183573	1.00[AMR][1000 genomes]
rs11183621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12298652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12304394	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12309262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs180431	1.00[EUR][1000 genomes]
rs2287469	1.00[AMR][1000 genomes]
rs3794308	1.00[EUR][1000 genomes]
rs56229259	0.87[ASN][1000 genomes]
rs56403430	0.87[ASN][1000 genomes]
rs59977082	0.87[ASN][1000 genomes]
rs74082941	0.87[ASN][1000 genomes]
rs74082948	0.81[ASN][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47217400-47220200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:47218600-47220200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:47219200-47219600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:47219200-47219600	Active TSS	Colonic Mucosa	Colon
5	chr12:47219200-47219600	Flanking Active TSS	Fetal Kidney	kidney
6	chr12:47219200-47219600	Active TSS	Fetal Stomach	stomach
7	chr12:47219200-47219800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:47219200-47219800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:47219200-47220000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:47219200-47220000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:47219200-47220000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:47219200-47220000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:47219200-47220000	Active TSS	Fetal Muscle Leg	muscle
14	chr12:47219200-47220000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:47219200-47220000	Flanking Active TSS	HepG2	liver
16	chr12:47219200-47220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:47219200-47220200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:47219200-47220200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:47219200-47220200	Flanking Active TSS	Liver	Liver
20	chr12:47219200-47220200	Bivalent/Poised TSS	NH-A	brain
21	chr12:47219400-47219600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
22	chr12:47219400-47219600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:47219400-47219600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr12:47219400-47219600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr12:47219400-47219600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:47219400-47219600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:47219400-47219600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:47219400-47219600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr12:47219400-47219600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr12:47219400-47219600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr12:47219400-47219600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
32	chr12:47219400-47219600	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr12:47219400-47219600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:47219400-47219600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
35	chr12:47219400-47219600	Active TSS	Fetal Intestine Large	intestine
36	chr12:47219400-47219600	Active TSS	Fetal Muscle Trunk	muscle
37	chr12:47219400-47219600	Active TSS	Placenta	Placenta
38	chr12:47219400-47219600	Enhancers	Pancreas	Pancrea
39	chr12:47219400-47219600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:47219400-47219600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:47219400-47219600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr12:47219400-47219600	Enhancers	NHEK	skin
43	chr12:47219400-47219600	Flanking Active TSS	Osteobl	bone
44	chr12:47219400-47219800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:47219400-47219800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:47219400-47219800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr12:47219400-47219800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:47219400-47219800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:47219400-47219800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:47219400-47219800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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