Variant report

Variant	rs622917
Chromosome Location	chr6:33702869-33702870
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: 2 )

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

rs_ID	r²[population]
rs10947435	1.00[JPT][hapmap]
rs11759396	0.81[JPT][hapmap]
rs2229642	0.81[JPT][hapmap]
rs2296742	0.81[JPT][hapmap]
rs2966	0.88[GIH][hapmap]
rs3227	0.89[CHB][hapmap]
rs3818523	0.81[JPT][hapmap]
rs3818527	0.85[GIH][hapmap]
rs4711336	0.81[JPT][hapmap]
rs4711338	0.81[JPT][hapmap]
rs4711339	0.85[GIH][hapmap]
rs4711343	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs4713658	0.81[JPT][hapmap]
rs4713669	0.83[ASN][1000 genomes]
rs4713670	0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs4713671	0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs4713672	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4713674	0.82[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4713675	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs509539	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs542441	0.92[CHD][hapmap];0.81[JPT][hapmap]
rs545787	0.86[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs560111	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs626156	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs6919321	1.00[JPT][hapmap]
rs7759668	0.85[GIH][hapmap]
rs791902	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs791903	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9348924	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9368776	0.80[ASN][1000 genomes]
rs9394163	0.88[GIH][hapmap]
rs942641	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs942643	0.85[GIH][hapmap]
rs9469583	0.90[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs622917	IP6K3	cis	multi-tissue	Pritchard
rs622917	HLA-DRB5	cis	parietal	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	chr6:33698400-33703000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr6:33698400-33703400	Strong transcription	Spleen	Spleen
12	chr6:33699200-33710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:33699400-33703600	Genic enhancers	Right Ventricle	heart
14	chr6:33699800-33708000	Weak transcription	Fetal Lung	lung
15	chr6:33700000-33705000	Weak transcription	Pancreas	Pancrea
16	chr6:33700200-33706600	Weak transcription	Fetal Intestine Large	intestine
17	chr6:33700400-33707400	Weak transcription	Lung	lung
18	chr6:33700600-33703800	Strong transcription	HSMMtube	muscle
19	chr6:33700600-33704600	Weak transcription	Right Atrium	heart
20	chr6:33700600-33705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:33700600-33707200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:33700800-33703600	Strong transcription	Brain Substantia Nigra	brain
23	chr6:33700800-33703800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:33701000-33705400	Weak transcription	Liver	Liver
25	chr6:33701200-33703400	Strong transcription	Brain Hippocampus Middle	brain
26	chr6:33701200-33704800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:33701400-33703000	Weak transcription	HepG2	liver
28	chr6:33701400-33705000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:33701600-33703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:33701600-33703600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:33701600-33703600	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:33701800-33703600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr6:33702000-33710000	Genic enhancers	HSMM	muscle
34	chr6:33702200-33706200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:33702400-33703200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
36	chr6:33702400-33703400	Enhancers	Psoas Muscle	Psoas
37	chr6:33702400-33703600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:33702400-33703600	Strong transcription	Brain Anterior Caudate	brain
39	chr6:33702400-33703600	Genic enhancers	Left Ventricle	heart
40	chr6:33702600-33703000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
41	chr6:33702600-33703200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr6:33702600-33704600	Weak transcription	Placenta	Placenta

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