Variant report

Variant	rs2300843
Chromosome Location	chr14:33231358-33231359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10133046	0.83[AFR][1000 genomes]
rs10143512	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs12890485	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs17091663	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2300839	0.90[ASN][1000 genomes]
rs2300840	0.90[ASN][1000 genomes]
rs35654417	0.88[ASN][1000 genomes]
rs35801270	0.88[ASN][1000 genomes]
rs7159774	0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs7494133	0.82[YRI][hapmap]
rs8012632	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8013976	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs977966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33205200-33254600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:33225200-33257600	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:33225400-33242800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:33226200-33257000	Weak transcription	Left Ventricle	heart
5	chr14:33226600-33232000	Weak transcription	Fetal Heart	heart
6	chr14:33227200-33242800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:33229200-33242600	Weak transcription	HSMMtube	muscle
8	chr14:33230000-33234000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:33230800-33232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:33230800-33232400	Weak transcription	NH-A	brain
11	chr14:33231000-33232000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:33231000-33232000	Weak transcription	Aorta	Aorta
13	chr14:33231000-33234000	Enhancers	Osteobl	bone
14	chr14:33231200-33232000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:33231200-33233000	Weak transcription	NHDF-Ad	bronchial
16	chr14:33231200-33233600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:33231200-33234000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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