Variant report

Variant	rs17439363
Chromosome Location	chr2:50199697-50199698
allele	G/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]
rs10495989	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11891637	0.92[EUR][1000 genomes]
rs11893341	0.92[EUR][1000 genomes]
rs17039606	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17493894	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6726132	1.00[CEU][hapmap]
rs6730936	0.84[EUR][1000 genomes]
rs7604754	0.92[EUR][1000 genomes]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50187600-50199800	Weak transcription	Fetal Brain Female	brain
2	chr2:50193400-50200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:50195000-50200000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:50198000-50200400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:50198800-50201800	Active TSS	Brain Angular Gyrus	brain
6	chr2:50199200-50199800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:50199200-50200600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:50199200-50200800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:50199200-50201400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:50199200-50201400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:50199400-50199800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:50199400-50200800	Enhancers	Fetal Brain Male	brain
13	chr2:50199400-50201000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:50199400-50201000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:50199600-50199800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:50199600-50200200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr2:50199600-50200400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:50199600-50200600	Enhancers	Brain Germinal Matrix	brain
19	chr2:50199600-50200800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:50199600-50200800	Enhancers	Brain Substantia Nigra	brain
21	chr2:50199600-50201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:50199600-50201600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:50199600-50201800	Active TSS	Brain Inferior Temporal Lobe	brain

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