Variant report

Variant	rs17442213
Chromosome Location	chr12:40453064-40453065
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	chr12:39935467..39937094-chr12:40451858..40454102,2	K562	blood:
2	12:40441273-40454218..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11174854	1.00[AFR][1000 genomes]
rs17458327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458528	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
2	chr12:40444000-40453400	Weak transcription	Right Ventricle	heart
3	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:40451200-40455000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:40451400-40453400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:40452000-40458600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:40452200-40453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:40452200-40453400	Enhancers	Hela-S3	cervix
9	chr12:40452200-40453800	Enhancers	Brain Germinal Matrix	brain
10	chr12:40452400-40453200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:40452400-40453400	Enhancers	Brain Angular Gyrus	brain
12	chr12:40452600-40453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:40452600-40453200	Enhancers	Fetal Intestine Small	intestine
14	chr12:40452600-40453400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:40452600-40453400	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:40452800-40453200	Enhancers	Stomach Mucosa	stomach
17	chr12:40452800-40453600	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:40452800-40453600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr12:40452800-40453600	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:40452800-40454000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:40452800-40460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:40453000-40453200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:40453000-40455600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:40453000-40457000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:40453000-40457400	Weak transcription	Brain Anterior Caudate	brain

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