Variant report

Variant	rs706352
Chromosome Location	chr1:57475518-57475519
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11206974	1.00[EUR][1000 genomes]
rs11799770	1.00[EUR][1000 genomes]
rs11807035	1.00[EUR][1000 genomes]
rs11808294	1.00[EUR][1000 genomes]
rs11808305	1.00[EUR][1000 genomes]
rs12072428	1.00[EUR][1000 genomes]
rs13374012	1.00[EUR][1000 genomes]
rs35124225	1.00[EUR][1000 genomes]
rs515493	0.94[YRI][hapmap]
rs6677976	1.00[EUR][1000 genomes]
rs6684103	1.00[EUR][1000 genomes]
rs6684287	1.00[EUR][1000 genomes]
rs6688025	1.00[EUR][1000 genomes]
rs6697460	1.00[EUR][1000 genomes]
rs7529992	1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57457800-57480400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57460400-57483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:57463800-57482200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57468800-57477400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:57469800-57477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57471200-57482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57472600-57484400	Weak transcription	Fetal Brain Male	brain
8	chr1:57473200-57477600	Strong transcription	Liver	Liver
9	chr1:57473600-57475800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:57474000-57476200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:57474000-57478000	Weak transcription	Fetal Stomach	stomach
12	chr1:57474200-57490200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:57474600-57475600	Strong transcription	Fetal Brain Female	brain
14	chr1:57474800-57477000	Weak transcription	Fetal Heart	heart
15	chr1:57475200-57476000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57475400-57476000	Bivalent Enhancer	hESC Derived CD184+ Endoderm 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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