Variant report

Variant	rs6846241
Chromosome Location	chr4:82117309-82117310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10033237	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1078980	0.82[AMR][1000 genomes]
rs11722019	0.82[AMR][1000 genomes]
rs11736177	0.82[AMR][1000 genomes]
rs1348399	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1443535	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17005090	0.86[EUR][1000 genomes]
rs1982283	0.82[AMR][1000 genomes]
rs2102818	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28550691	0.92[EUR][1000 genomes]
rs3733553	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58629505	0.93[EUR][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82114800-82118400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:82116000-82117400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:82116000-82117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:82116000-82121000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:82116200-82120200	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:82116200-82121200	Weak transcription	NHLF	lung
7	chr4:82116600-82120000	Genic enhancers	Fetal Intestine Small	intestine
8	chr4:82116800-82117600	Genic enhancers	NHDF-Ad	bronchial
9	chr4:82116800-82119200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:82117000-82117600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:82117000-82117600	Enhancers	HMEC	breast
12	chr4:82117000-82120200	Genic enhancers	Fetal Intestine Large	intestine
13	chr4:82117200-82117600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:82117200-82117600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:82117200-82117600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:82117200-82117800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:82117200-82117800	Enhancers	NHEK	skin
18	chr4:82117200-82118200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:82117200-82119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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