Variant report

Variant	rs4851278
Chromosome Location	chr2:100878197-100878198
allele	C/T
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]
rs10174820	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs11694723	0.80[JPT][hapmap]
rs12615454	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2871340	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs34529583	0.89[ASN][1000 genomes]
rs3748928	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4322861	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4438499	0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4455176	0.89[ASN][1000 genomes]
rs4851279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542925	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6723909	0.83[CHB][hapmap];0.88[JPT][hapmap];0.82[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100874600-100879200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100875200-100881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:100877000-100879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:100877000-100879400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:100877200-100879200	Weak transcription	Fetal Lung	lung
9	chr2:100877400-100879200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:100877600-100879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:100877600-100879200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:100877600-100879800	Weak transcription	Fetal Brain Male	brain
13	chr2:100877600-100888600	Weak transcription	Ovary	ovary
14	chr2:100877800-100878400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:100877800-100879200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:100877800-100879200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:100877800-100880400	Weak transcription	Placenta	Placenta
18	chr2:100878000-100879000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:100878000-100879400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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Input of quick search could be:

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

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