Variant report

Variant	rs57650273
Chromosome Location	chr13:80352305-80352306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80351146..80352991-chr13:80353184..80354847,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12583646	0.95[ASN][1000 genomes]
rs12583817	0.95[ASN][1000 genomes]
rs12584347	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12584389	0.85[ASN][1000 genomes]
rs12584683	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12585395	0.86[ASN][1000 genomes]
rs1335287	0.82[ASN][1000 genomes]
rs1414111	0.94[ASN][1000 genomes]
rs17071815	0.94[ASN][1000 genomes]
rs56336080	0.94[AFR][1000 genomes]
rs7330531	0.94[ASN][1000 genomes]
rs74099682	0.90[AFR][1000 genomes]
rs74099685	0.90[AFR][1000 genomes]
rs74099688	0.91[ASN][1000 genomes]
rs74099689	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74099690	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74099692	0.98[AFR][1000 genomes]
rs74099693	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs74099696	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74099697	0.98[AFR][1000 genomes]
rs74099698	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74099699	1.00[AFR][1000 genomes];0.95[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	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80347000-80353800	Weak transcription	Psoas Muscle	Psoas
2	chr13:80349400-80354400	Enhancers	Fetal Intestine Small	intestine
3	chr13:80349600-80357600	Enhancers	Fetal Intestine Large	intestine
4	chr13:80349800-80354000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr13:80349800-80358600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:80350000-80353400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:80350000-80354000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:80350200-80354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:80350200-80354000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:80350400-80353600	Weak transcription	Adipose Nuclei	Adipose
11	chr13:80350400-80353800	Weak transcription	Fetal Kidney	kidney
12	chr13:80350400-80353800	Weak transcription	NH-A	brain
13	chr13:80350600-80354000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:80350800-80353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:80350800-80354000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:80350800-80354200	Weak transcription	A549	lung
17	chr13:80350800-80356000	Weak transcription	Fetal Lung	lung
18	chr13:80351000-80352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr13:80351000-80352800	Weak transcription	Fetal Heart	heart
20	chr13:80351000-80353400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:80351000-80353400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:80351000-80353400	Weak transcription	HMEC	breast
23	chr13:80351000-80353600	Weak transcription	Hela-S3	cervix
24	chr13:80351000-80353600	Weak transcription	HSMM	muscle
25	chr13:80351000-80353800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:80351000-80353800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:80351000-80353800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr13:80351000-80353800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr13:80351000-80353800	Weak transcription	NHLF	lung
30	chr13:80351000-80356000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr13:80351000-80356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:80351000-80356200	Weak transcription	HUVEC	blood vessel
33	chr13:80351200-80352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:80351200-80353200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:80351200-80353400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:80351200-80353400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:80351200-80353600	Weak transcription	Osteobl	bone
38	chr13:80351200-80353800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr13:80351200-80353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:80351200-80354000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:80351600-80352800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:80351800-80353600	Weak transcription	NHDF-Ad	bronchial
43	chr13:80351800-80353800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:80351800-80354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:80351800-80354200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:80351800-80356200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:80351800-80356200	Weak transcription	Duodenum Mucosa	Duodenum

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