Variant report

Variant	rs3777601
Chromosome Location	chr6:45951349-45951350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10484841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11755075	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11961195	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1209197	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12209924	0.94[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1338466	0.82[MEX][hapmap]
rs1538332	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057148	0.81[CEU][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs35958043	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798267	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs4711839	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3777601	MRPL14	cis	cerebellum	SCAN
rs3777601	RHAG	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45938600-45953200	Weak transcription	Lung	lung
2	chr6:45943400-45952600	Weak transcription	Placenta	Placenta
3	chr6:45946600-45954800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:45946800-45952600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr6:45949200-45951600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:45949400-45954600	Weak transcription	Fetal Kidney	kidney
7	chr6:45949800-45951400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr6:45950600-45960200	Enhancers	Psoas Muscle	Psoas
9	chr6:45950800-45951400	Genic enhancers	Fetal Intestine Large	intestine
10	chr6:45950800-45951400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:45950800-45951400	Enhancers	Small Intestine	intestine
12	chr6:45950800-45953400	Genic enhancers	Left Ventricle	heart
13	chr6:45951000-45952400	Weak transcription	Fetal Heart	heart
14	chr6:45951000-45952400	Weak transcription	Right Ventricle	heart
15	chr6:45951000-45955200	Enhancers	Right Atrium	heart
16	chr6:45951200-45951400	Genic enhancers	Fetal Intestine Small	intestine
17	chr6:45951200-45954800	Weak transcription	Duodenum Mucosa	Duodenum

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

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