Variant report

Variant	rs2043234
Chromosome Location	chr2:134314782-134314783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12471007	0.84[AMR][1000 genomes]
rs16826003	0.88[AMR][1000 genomes]
rs16826005	0.88[AMR][1000 genomes]
rs16826351	0.90[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1897428	0.97[AMR][1000 genomes]
rs2043233	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278850	0.83[JPT][hapmap]
rs6731024	0.84[JPT][hapmap]
rs6755693	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:134303800-134315800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:134310400-134315000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:134310400-134324000	Weak transcription	NHEK	skin
5	chr2:134310800-134314800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:134311000-134315200	Weak transcription	Fetal Heart	heart
7	chr2:134311200-134314800	Weak transcription	NHDF-Ad	bronchial
8	chr2:134311200-134323000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:134311600-134315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:134312000-134318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:134312000-134323600	Weak transcription	NH-A	brain
12	chr2:134312600-134321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:134312800-134315200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:134313000-134315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:134314200-134318400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:134314400-134316600	Enhancers	Brain Hippocampus Middle	brain
17	chr2:134314400-134318000	Weak transcription	Hela-S3	cervix
18	chr2:134314600-134316000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:134314600-134316600	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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