Variant report

Variant	rs953811
Chromosome Location	chr2:150921478-150921479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13412014	0.87[ASN][1000 genomes]
rs1554180	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1579855	0.84[ASN][1000 genomes]
rs1878098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73002443	0.87[ASN][1000 genomes]

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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv875285	chr2:150904671-150985765	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150915800-150922600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:150918800-150922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:150919600-150921800	Enhancers	Brain Germinal Matrix	brain
4	chr2:150919600-150922200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:150919800-150921800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:150919800-150922200	Enhancers	Fetal Brain Female	brain
7	chr2:150920200-150922000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:150920200-150922000	Enhancers	Fetal Brain Male	brain
9	chr2:150921000-150922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:150921000-150932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:150921200-150922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:150921400-150921800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:150921400-150922400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:150921400-150922600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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