Variant report

Variant	rs817537
Chromosome Location	chr2:33469323-33469324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10169788	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs10175557	0.87[AMR][1000 genomes]
rs10175619	0.83[CHB][hapmap]
rs11124313	0.86[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes]
rs11673950	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs11684829	0.87[AMR][1000 genomes]
rs13391131	0.90[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs13392154	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13394195	0.88[AMR][1000 genomes]
rs17582516	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs2603361	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754829	0.82[GIH][hapmap]
rs3769540	0.91[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes]
rs3769545	0.83[CHB][hapmap]
rs41464348	0.88[MEX][hapmap];0.81[TSI][hapmap]
rs4233909	0.88[AMR][1000 genomes]
rs4670387	0.86[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs4670408	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes]
rs62148881	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62148882	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6543704	0.86[ASW][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs6543705	0.91[CHB][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs6711027	0.88[AMR][1000 genomes]
rs6739030	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs6739506	0.86[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes]
rs6739725	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs711234	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723043	0.83[CHB][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs749454	0.91[CHB][hapmap]
rs7565095	0.84[AMR][1000 genomes]
rs7575377	0.88[MEX][hapmap];0.81[TSI][hapmap]
rs7586227	0.87[AMR][1000 genomes]
rs7590205	0.86[ASW][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs817529	0.86[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817532	1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs817534	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817535	0.91[CHD][hapmap];0.82[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs817536	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817539	0.89[AMR][1000 genomes]
rs877672	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs9308934	0.88[JPT][hapmap]
rs935996	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs971793	0.91[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs817537	HEATR5B	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
3	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:33455800-33470600	Weak transcription	Fetal Kidney	kidney
5	chr2:33463800-33471400	Weak transcription	Aorta	Aorta
6	chr2:33464200-33471800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:33465000-33471600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:33466600-33471400	Weak transcription	Left Ventricle	heart
10	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
12	chr2:33467200-33469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:33467600-33469800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:33467800-33469800	Enhancers	NHDF-Ad	bronchial
15	chr2:33467800-33474000	Weak transcription	Fetal Heart	heart
16	chr2:33467800-33475600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:33468200-33469800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:33468200-33475800	Weak transcription	Ovary	ovary
19	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:33468400-33469400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:33468400-33470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:33468400-33470400	Weak transcription	Osteobl	bone
23	chr2:33468400-33471200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:33468400-33471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:33468400-33471400	Weak transcription	A549	lung
26	chr2:33468600-33475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:33468600-33475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:33468600-33477000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:33468800-33471000	Weak transcription	NH-A	brain
30	chr2:33468800-33475400	Weak transcription	NHLF	lung
31	chr2:33469200-33471200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:33469200-33475600	Weak transcription	Fetal Stomach	stomach

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