Variant report

Variant	rs2499840
Chromosome Location	chr1:161958334-161958335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161958334-161958778	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
OLFML2B	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2490419	0.85[AFR][1000 genomes]
rs2490421	0.90[AFR][1000 genomes]
rs2490443	0.90[AFR][1000 genomes]
rs2499837	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv548078	chr1:161941219-161980502	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 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	chr1:161944400-161964000	Weak transcription	Ovary	ovary
2	chr1:161954000-161972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:161954800-161958800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:161954800-161959800	Genic enhancers	Fetal Muscle Leg	muscle
5	chr1:161956600-161959000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr1:161956800-161958800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:161956800-161963200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:161957000-161959200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:161957200-161959200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:161957400-161967400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:161957600-161959000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:161957600-161963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:161957600-161963200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:161957600-161963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:161957600-161963800	Weak transcription	Osteobl	bone
16	chr1:161957800-161958400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:161957800-161958800	Weak transcription	NHLF	lung
18	chr1:161957800-161959000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:161957800-161961800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:161957800-161963000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:161957800-161963600	Weak transcription	HSMM	muscle
22	chr1:161958000-161958600	Weak transcription	NHDF-Ad	bronchial
23	chr1:161958000-161959000	Weak transcription	Aorta	Aorta
24	chr1:161958000-161959800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:161958000-161961200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:161958000-161961600	Weak transcription	HSMMtube	muscle
27	chr1:161958000-161963600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:161958000-161966000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:161958200-161959200	Enhancers	Primary neutrophils fromperipheralblood	blood

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