Variant report

Variant	rs6034549
Chromosome Location	chr20:16591354-16591355
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16589932..16591784-chr20:16595469..16597980,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1105853	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207205	0.81[AFR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2328049	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813228	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4813229	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4813230	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4814513	0.99[EUR][1000 genomes]
rs4814516	0.99[EUR][1000 genomes]
rs4814517	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6034552	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6034554	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6044161	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6044162	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6044169	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6044170	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6044171	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6044173	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6044174	0.94[EUR][1000 genomes]
rs6075081	0.99[EUR][1000 genomes]
rs6080303	0.81[CHB][hapmap]
rs6080312	1.00[CEU][hapmap];0.86[CHB][hapmap];0.99[EUR][1000 genomes]
rs6080315	0.99[EUR][1000 genomes]
rs6080317	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6080320	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080330	0.97[EUR][1000 genomes]
rs6111200	0.99[EUR][1000 genomes]
rs6135800	0.81[CHB][hapmap]
rs6135809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928624	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945239	0.98[EUR][1000 genomes]
rs945240	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][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	nsv1057674	chr20:16564642-16593209	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv1055217	chr20:16568062-16596470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6034549	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16587000-16593200	Enhancers	Fetal Intestine Large	intestine
2	chr20:16588000-16592400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:16589000-16592600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr20:16589000-16593000	Enhancers	Fetal Intestine Small	intestine
5	chr20:16589200-16592200	Weak transcription	Colonic Mucosa	Colon
6	chr20:16589200-16596000	Weak transcription	Colon Smooth Muscle	Colon
7	chr20:16589400-16593400	Weak transcription	HSMMtube	muscle
8	chr20:16589800-16596200	Weak transcription	Fetal Kidney	kidney
9	chr20:16590000-16591400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr20:16590000-16596000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr20:16590000-16596400	Weak transcription	Ovary	ovary
12	chr20:16590000-16602400	Weak transcription	Right Atrium	heart
13	chr20:16590400-16592200	Weak transcription	Fetal Muscle Leg	muscle
14	chr20:16590400-16595800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:16590400-16595800	Weak transcription	Small Intestine	intestine
16	chr20:16590400-16596200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr20:16590600-16592000	Weak transcription	Pancreas	Pancrea
18	chr20:16590600-16592600	Weak transcription	Fetal Lung	lung
19	chr20:16590600-16594000	Weak transcription	Fetal Brain Male	brain
20	chr20:16590800-16595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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