Variant report

Variant	rs17439220
Chromosome Location	chr7:78219309-78219310
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:11)

rs_ID	r²[population]
rs11765998	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11970969	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs319870	0.95[CEU][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs319871	0.81[CEU][hapmap];0.86[AFR][1000 genomes]
rs319872	0.82[JPT][hapmap]
rs319873	0.82[CEU][hapmap]
rs319874	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs319875	0.90[CEU][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62468650	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62468651	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62468652	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78209800-78219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78210600-78219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:78216800-78223200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:78217600-78219800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:78218000-78220800	Weak transcription	Left Ventricle	heart
6	chr7:78218000-78222000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:78218000-78223400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:78218200-78223000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:78218200-78223200	Weak transcription	Fetal Heart	heart
10	chr7:78218200-78223400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:78218200-78223400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:78218200-78223400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:78218400-78224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:78218800-78223400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:78219000-78219800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:78219000-78258600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:78219200-78219400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:78219200-78220000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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

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