Variant report

Variant	rs4836343
Chromosome Location	chr5:127262217-127262218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10052229	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10071108	0.84[ASN][1000 genomes]
rs10477678	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654649	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17164505	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2263502	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2409034	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2409035	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409036	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2681509	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4835933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836341	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56806325	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6865186	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898966	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73331900	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7711172	0.86[EUR][1000 genomes];0.85[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
2	chr5:127258400-127266400	Weak transcription	Gastric	stomach
3	chr5:127258400-127266400	Weak transcription	Pancreas	Pancrea
4	chr5:127259400-127262400	Enhancers	A549	lung
5	chr5:127260000-127262400	Weak transcription	GM12878-XiMat	blood
6	chr5:127260600-127265600	Weak transcription	HUVEC	blood vessel
7	chr5:127261200-127262600	Enhancers	Stomach Mucosa	stomach
8	chr5:127261200-127266000	Weak transcription	HSMMtube	muscle
9	chr5:127261400-127262400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr5:127261800-127262600	Enhancers	Fetal Intestine Large	intestine
11	chr5:127261800-127266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127261800-127266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:127261800-127270200	Weak transcription	NHEK	skin
14	chr5:127262000-127262600	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:127262000-127262800	Enhancers	Fetal Intestine Small	intestine
16	chr5:127262000-127262800	Enhancers	Small Intestine	intestine
17	chr5:127262000-127266200	Weak transcription	Hela-S3	cervix
18	chr5:127262200-127265400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:127262200-127266000	Weak transcription	HMEC	breast

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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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