Variant report

Variant	rs3996950
Chromosome Location	chr6:54748424-54748425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11969918	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12192659	0.80[EUR][1000 genomes]
rs2134536	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2207026	0.81[EUR][1000 genomes]
rs239779	0.80[EUR][1000 genomes]
rs239781	0.81[EUR][1000 genomes]
rs239783	0.81[EUR][1000 genomes]
rs239794	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs239815	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs239837	0.80[EUR][1000 genomes]
rs2746443	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2816810	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2816812	0.81[EUR][1000 genomes]
rs421957	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6459034	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:54737600-54755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:54739800-54763000	Weak transcription	Small Intestine	intestine
4	chr6:54743000-54752000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:54744200-54757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:54744400-54761000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:54744600-54748600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:54744800-54751400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:54744800-54752000	Weak transcription	Fetal Intestine Large	intestine
10	chr6:54744800-54755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:54746200-54753400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:54746200-54755200	Weak transcription	NHEK	skin
13	chr6:54746200-54755600	Weak transcription	HMEC	breast
14	chr6:54746400-54757800	Weak transcription	Hela-S3	cervix
15	chr6:54747600-54756000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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