Variant report

Variant	rs4713691
Chromosome Location	chr6:33790415-33790416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1535950	0.93[ASN][1000 genomes]
rs1969844	0.91[ASN][1000 genomes]
rs2281816	0.80[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3763257	0.89[ASN][1000 genomes]
rs3763258	0.89[ASN][1000 genomes]
rs3763260	0.80[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4607416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs4713683	0.81[JPT][hapmap]
rs4713686	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs4713689	0.95[JPT][hapmap]
rs756137	0.81[JPT][hapmap]
rs767895	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380381	0.84[ASN][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	nsv885773	chr6:33778964-33813043	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv885774	chr6:33778964-33840121	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv885775	chr6:33788055-33828178	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713691	DEF6	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33776400-33792400	Weak transcription	Right Atrium	heart
2	chr6:33781800-33792400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33782200-33790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33782800-33790600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:33789000-33792400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:33789400-33795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:33790200-33791600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:33790200-33792600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:33790200-33792800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:33790200-33793200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:33790400-33792400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:33790400-33792600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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