Variant report

Variant	rs3052943
Chromosome Location	chr12:40451888-40451889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39935467..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]
rs17442108	0.83[AMR][1000 genomes]
rs28370644	0.83[AMR][1000 genomes]
rs28370681	0.83[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
2	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:40444000-40453400	Weak transcription	Right Ventricle	heart
5	chr12:40449200-40452400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:40449200-40452400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:40449200-40452600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:40449400-40452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:40449400-40452200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40449400-40452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:40449400-40452400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:40449400-40452600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:40449400-40452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:40449400-40452600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:40449600-40452600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:40450000-40452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:40450600-40452200	Weak transcription	Hela-S3	cervix
19	chr12:40450800-40452200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:40451200-40455000	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:40451400-40452000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:40451400-40452400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:40451400-40453400	Enhancers	Rectal Mucosa Donor 31	rectum

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