Variant report

Variant	rs17756373
Chromosome Location	chr20:23092638-23092639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23092388..23096498-chr20:23127168..23130418,4	K562	blood:
2	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1338945	0.90[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs34151880	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34290000	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4446126	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048548	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048549	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076024	0.84[EUR][1000 genomes]
rs6076025	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6076026	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6076027	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6076030	0.85[CEU][hapmap]
rs6083006	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844814	0.91[ASN][1000 genomes]
rs844815	0.93[ASN][1000 genomes]
rs844816	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs844817	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844819	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844821	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844822	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844823	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844825	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844827	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844828	0.94[ASN][1000 genomes]
rs844829	0.94[ASN][1000 genomes]
rs844830	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844831	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs844846	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844850	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844852	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844853	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844854	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844856	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844860	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844861	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844862	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844863	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844864	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844865	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844866	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844874	0.92[EUR][1000 genomes]
rs844877	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2762066	chr20:23082036-23092700	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17756373	NUDT22	trans	parietal	SCAN
rs17756373	CST9	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23086200-23092800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:23086200-23094200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:23087000-23093800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:23088000-23100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:23088200-23094000	Weak transcription	Primary B cells from cord blood	blood
7	chr20:23088200-23094800	Weak transcription	Right Atrium	heart
8	chr20:23088200-23095000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:23088200-23096800	Weak transcription	Esophagus	oesophagus
10	chr20:23088400-23093600	Weak transcription	Adipose Nuclei	Adipose
11	chr20:23088400-23094400	Weak transcription	Left Ventricle	heart
12	chr20:23088800-23093400	Weak transcription	Fetal Muscle Leg	muscle
13	chr20:23089600-23094600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr20:23090000-23094800	Weak transcription	Lung	lung
15	chr20:23090400-23093400	Weak transcription	Spleen	Spleen
16	chr20:23091200-23100600	Enhancers	Dnd41	blood
17	chr20:23091600-23093000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr20:23091800-23093400	Weak transcription	K562	blood
19	chr20:23092000-23093200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr20:23092200-23093200	Enhancers	GM12878-XiMat	blood
21	chr20:23092400-23093000	Enhancers	Fetal Muscle Trunk	muscle
22	chr20:23092400-23093200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr20:23092400-23095000	Enhancers	Fetal Thymus	thymus
24	chr20:23092400-23099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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