Variant report

Variant	rs17491881
Chromosome Location	chr2:50188135-50188136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17439140	0.93[YRI][hapmap]
rs1836546	0.83[ASN][1000 genomes]
rs2193868	0.85[YRI][hapmap]
rs72885887	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72885891	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72885896	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72885899	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983094	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932839	chr2:50181785-50225697	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 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	chr2:50184200-50189000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50185200-50188800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:50185800-50188200	Weak transcription	Fetal Brain Male	brain
4	chr2:50186400-50188600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:50186600-50188600	Enhancers	Brain Angular Gyrus	brain
6	chr2:50186800-50188400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:50186800-50188800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:50187400-50188200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:50187400-50188800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:50187400-50189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:50187600-50199800	Weak transcription	Fetal Brain Female	brain
12	chr2:50187800-50188400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:50187800-50188400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:50188000-50188200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:50188000-50188600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:50188000-50188600	Enhancers	Brain Substantia Nigra	brain
17	chr2:50188000-50198200	Weak transcription	Brain Inferior Temporal Lobe	brain

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

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