Variant report

Variant	rs5998941
Chromosome Location	chr22:33828996-33828997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2255556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267202	0.88[ASN][1000 genomes]
rs2267203	0.82[ASN][1000 genomes]
rs2280977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2283906	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2413185	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2413186	0.88[CHD][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5754547	0.85[ASN][1000 genomes]
rs5998935	0.83[MEX][hapmap]
rs5998943	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs713740	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs724776	0.91[MEX][hapmap]
rs738166	0.92[ASN][1000 genomes]
rs760544	0.88[LWK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs9607045	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
3	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
12	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1060666	chr22:33800218-33841525	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
15	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1060862	chr22:33810445-33891296	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1057547	chr22:33810445-33939474	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
20	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5998941	GPR64	trans	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
2	chr22:33780600-33834000	Weak transcription	Gastric	stomach
3	chr22:33812400-33834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:33817200-33834000	Weak transcription	Brain Anterior Caudate	brain
5	chr22:33818200-33830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:33818400-33834000	Weak transcription	HSMMtube	muscle
7	chr22:33818600-33832600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:33819200-33839800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:33823000-33836000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:33823400-33832600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:33823400-33833600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:33823400-33833600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:33823400-33836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33823400-33839400	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:33823800-33829400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:33823800-33832600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:33824400-33834000	Weak transcription	Lung	lung
18	chr22:33824600-33833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:33825000-33829000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:33826000-33829200	Weak transcription	Fetal Brain Male	brain
21	chr22:33826000-33830800	Weak transcription	Spleen	Spleen
22	chr22:33826000-33837800	Weak transcription	GM12878-XiMat	blood
23	chr22:33826200-33829200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:33826200-33829600	Weak transcription	Fetal Brain Female	brain
25	chr22:33826400-33833000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:33826800-33844600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:33827000-33830800	Weak transcription	HepG2	liver
28	chr22:33827400-33829400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:33827400-33830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:33827600-33831800	Weak transcription	Fetal Heart	heart
31	chr22:33827600-33834000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:33827600-33838000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:33827800-33829400	Weak transcription	Liver	Liver
34	chr22:33828000-33829000	Weak transcription	Brain Angular Gyrus	brain
35	chr22:33828000-33830600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:33828200-33829600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:33828200-33829800	Weak transcription	Fetal Intestine Large	intestine
38	chr22:33828200-33830000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:33828200-33830400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:33828200-33831000	Weak transcription	Aorta	Aorta
41	chr22:33828200-33831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:33828200-33833200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:33828200-33834000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:33828200-33834200	Weak transcription	Colon Smooth Muscle	Colon
45	chr22:33828200-33834200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr22:33828200-33834400	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:33828200-33837400	Weak transcription	Ovary	ovary
48	chr22:33828200-33848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:33828200-33855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:33828400-33832000	Weak transcription	Right Ventricle	heart

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