Variant report

Variant	rs785051
Chromosome Location	chr2:191044233-191044234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191040400..191043203-chr2:191043508..191045090,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13399176	0.95[ASN][1000 genomes]
rs1866848	0.81[AFR][1000 genomes]
rs2165407	0.81[AFR][1000 genomes]
rs2251866	0.81[AFR][1000 genomes]
rs2664265	1.00[AFR][1000 genomes]
rs291401	0.81[AFR][1000 genomes]
rs291457	0.91[AFR][1000 genomes]
rs56727995	0.95[ASN][1000 genomes]
rs698586	0.91[AFR][1000 genomes]
rs698602	0.80[ASN][1000 genomes]
rs698605	1.00[AFR][1000 genomes]
rs785050	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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191037000-191044400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:191037000-191044400	Weak transcription	Small Intestine	intestine
3	chr2:191039600-191044800	Weak transcription	Right Atrium	heart
4	chr2:191042000-191044600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:191042000-191044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:191042400-191044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:191042600-191044400	Weak transcription	Fetal Heart	heart
8	chr2:191043000-191044400	Weak transcription	GM12878-XiMat	blood
9	chr2:191043000-191044600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:191043200-191044600	Enhancers	Brain Anterior Caudate	brain
11	chr2:191043200-191044600	Weak transcription	K562	blood
12	chr2:191043200-191044800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:191043400-191044400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:191043400-191044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:191043400-191044800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:191043400-191044800	Weak transcription	Pancreas	Pancrea
17	chr2:191043600-191044600	Enhancers	Stomach Mucosa	stomach
18	chr2:191043600-191044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:191043600-191044800	Enhancers	Brain Angular Gyrus	brain
20	chr2:191043600-191044800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:191043600-191044800	Enhancers	Brain Substantia Nigra	brain
22	chr2:191043800-191044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:191043800-191044800	Enhancers	Fetal Intestine Large	intestine
24	chr2:191044000-191044400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:191044000-191044600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:191044000-191044600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:191044200-191044400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:191044200-191044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:191044200-191044600	Flanking Active TSS	HepG2	liver

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