Variant report

Variant	rs623813
Chromosome Location	chr6:33703089-33703090
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	chr6:33695701..33698175-chr6:33702130..33704789,2	K562	blood:
2	chr6:33701443..33703598-chr6:33706736..33709323,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10672	1.00[JPT][hapmap]
rs10947436	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs1536501	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs1998949	1.00[JPT][hapmap]
rs2182659	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2395401	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2395448	1.00[JPT][hapmap]
rs2967	1.00[JPT][hapmap]
rs4711350	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs487835	0.82[EUR][1000 genomes]
rs498114	1.00[JPT][hapmap]
rs530614	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs549652	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs570749	0.80[EUR][1000 genomes]
rs597386	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs597723	0.89[ASN][1000 genomes]
rs602399	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs608971	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652049	0.82[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs654682	1.00[JPT][hapmap]
rs658087	0.84[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs680608	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684119	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688209	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6913517	1.00[JPT][hapmap]
rs6915136	0.94[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs751727	1.00[JPT][hapmap]
rs764753	1.00[JPT][hapmap]
rs791904	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943463	1.00[JPT][hapmap]
rs943464	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs943472	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9461905	1.00[JPT][hapmap]
rs9469542	1.00[JPT][hapmap]

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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs623813	UHRF1BP1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:33690800-33708200	Weak transcription	Gastric	stomach
4	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:33692000-33706800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:33695600-33711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:33698400-33703400	Strong transcription	Spleen	Spleen
11	chr6:33699200-33710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:33699400-33703600	Genic enhancers	Right Ventricle	heart
13	chr6:33699800-33708000	Weak transcription	Fetal Lung	lung
14	chr6:33700000-33705000	Weak transcription	Pancreas	Pancrea
15	chr6:33700200-33706600	Weak transcription	Fetal Intestine Large	intestine
16	chr6:33700400-33707400	Weak transcription	Lung	lung
17	chr6:33700600-33703800	Strong transcription	HSMMtube	muscle
18	chr6:33700600-33704600	Weak transcription	Right Atrium	heart
19	chr6:33700600-33705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:33700600-33707200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:33700800-33703600	Strong transcription	Brain Substantia Nigra	brain
22	chr6:33700800-33703800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33701000-33705400	Weak transcription	Liver	Liver
24	chr6:33701200-33703400	Strong transcription	Brain Hippocampus Middle	brain
25	chr6:33701200-33704800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:33701400-33705000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:33701600-33703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:33701600-33703600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:33701600-33703600	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:33701800-33703600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr6:33702000-33710000	Genic enhancers	HSMM	muscle
32	chr6:33702200-33706200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:33702400-33703200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
34	chr6:33702400-33703400	Enhancers	Psoas Muscle	Psoas
35	chr6:33702400-33703600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:33702400-33703600	Strong transcription	Brain Anterior Caudate	brain
37	chr6:33702400-33703600	Genic enhancers	Left Ventricle	heart
38	chr6:33702600-33703200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr6:33702600-33704600	Weak transcription	Placenta	Placenta
40	chr6:33703000-33703200	Enhancers	HepG2	liver
41	chr6:33703000-33704400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:33703000-33704600	Weak transcription	Placenta Amnion	Placenta Amnion

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