Variant report

Variant	rs7330531
Chromosome Location	chr13:80315019-80315020
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12583646	0.99[ASN][1000 genomes]
rs12583817	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12584347	0.96[ASN][1000 genomes]
rs12584389	0.84[ASN][1000 genomes]
rs12584683	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12585395	0.85[ASN][1000 genomes]
rs1335287	0.80[ASN][1000 genomes]
rs1414111	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1577405	0.98[EUR][1000 genomes]
rs17071815	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189468	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17793708	0.84[EUR][1000 genomes]
rs57650273	0.94[ASN][1000 genomes]
rs74099688	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74099689	0.97[ASN][1000 genomes]
rs74099690	0.97[ASN][1000 genomes]
rs74099693	0.95[ASN][1000 genomes]
rs74099696	0.96[ASN][1000 genomes]
rs74099698	0.96[ASN][1000 genomes]
rs74099699	0.96[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
2	chr13:80310200-80315200	Weak transcription	Left Ventricle	heart
3	chr13:80310400-80319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:80311400-80318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:80311400-80324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:80311600-80317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:80311600-80323800	Weak transcription	HMEC	breast
8	chr13:80313800-80316200	Enhancers	Fetal Kidney	kidney
9	chr13:80314600-80315400	Enhancers	Fetal Intestine Small	intestine
10	chr13:80314600-80315600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:80314600-80315600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:80314600-80315800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:80314600-80315800	Enhancers	Fetal Heart	heart
14	chr13:80314600-80315800	Enhancers	Fetal Intestine Large	intestine
15	chr13:80314800-80315400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:80314800-80315400	Enhancers	NHEK	skin
17	chr13:80314800-80315800	Enhancers	Fetal Stomach	stomach
18	chr13:80314800-80316200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:80315000-80315200	Enhancers	Rectal Smooth Muscle	rectum
20	chr13:80315000-80315200	Active TSS	Osteobl	bone
21	chr13:80315000-80315400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:80315000-80315400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:80315000-80315400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:80315000-80315400	Enhancers	Fetal Muscle Leg	muscle
25	chr13:80315000-80315400	Enhancers	Pancreas	Pancrea
26	chr13:80315000-80315400	Enhancers	Right Ventricle	heart
27	chr13:80315000-80315400	Enhancers	Small Intestine	intestine
28	chr13:80315000-80315400	Enhancers	HSMM	muscle
29	chr13:80315000-80315400	Enhancers	HSMMtube	muscle
30	chr13:80315000-80315600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:80315000-80315600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:80315000-80315800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:80315000-80316000	Weak transcription	Hela-S3	cervix
34	chr13:80315000-80316200	Enhancers	Fetal Lung	lung

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