Variant report

Variant	rs4846806
Chromosome Location	chr1:217207089-217207090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10863289	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs11117755	0.82[JPT][hapmap]
rs11117756	0.83[YRI][hapmap]
rs11117760	0.92[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs11581079	0.82[JPT][hapmap]
rs11807917	0.83[LWK][hapmap];0.83[YRI][hapmap]
rs12035277	0.85[JPT][hapmap]
rs13374296	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs1416531	0.89[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap]
rs4085455	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs4846803	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs4846804	0.82[AFR][1000 genomes]
rs6694626	0.82[AFR][1000 genomes]
rs7513573	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7522101	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs7527281	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs7538474	0.89[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs950581	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4846806	ANGEL2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217199600-217211800	Weak transcription	Gastric	stomach
2	chr1:217204000-217212000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:217204200-217207800	Weak transcription	Pancreas	Pancrea
4	chr1:217204200-217209800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:217204800-217226000	Weak transcription	Fetal Kidney	kidney
6	chr1:217205400-217209600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:217206600-217208000	Weak transcription	Right Atrium	heart
8	chr1:217206800-217214200	Weak transcription	Fetal Heart	heart

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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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