Variant report

Variant	rs4594049
Chromosome Location	chr12:20765348-20765349
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10743379	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6487114	0.81[AFR][1000 genomes]
rs7308381	0.91[AFR][1000 genomes]
rs7961297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964099	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv557702	chr12:20755626-20779078	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
2	chr12:20754000-20766200	Weak transcription	Hela-S3	cervix
3	chr12:20754200-20766200	Weak transcription	Right Ventricle	heart
4	chr12:20755600-20766200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
6	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:20756400-20766200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:20761200-20769200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:20761400-20771000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:20761600-20769200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:20763000-20780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:20763600-20768000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:20764400-20765400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:20764800-20769200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:20764800-20769200	Weak transcription	Osteobl	bone
18	chr12:20765000-20765400	Enhancers	A549	lung
19	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel

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

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