Variant report

Variant	rs7565922
Chromosome Location	chr2:72441720-72441721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1000523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1003672	0.93[ASN][1000 genomes]
rs10175915	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10178138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10178847	0.85[ASN][1000 genomes]
rs10181899	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10182075	1.00[YRI][hapmap]
rs10186006	1.00[YRI][hapmap]
rs10190799	0.93[ASN][1000 genomes]
rs10192800	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10193543	0.85[ASN][1000 genomes]
rs10196589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10204415	0.83[GIH][hapmap]
rs10205108	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs10209861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10221769	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11126362	0.86[ASN][1000 genomes]
rs11126363	0.93[ASN][1000 genomes]
rs1123199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1159763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1159764	1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs1159765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1159766	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs12151496	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12466026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12466112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13382986	0.85[ASN][1000 genomes]
rs13387630	0.85[ASN][1000 genomes]
rs13389524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13391463	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392314	0.85[ASN][1000 genomes]
rs13395204	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404369	0.93[ASN][1000 genomes]
rs13416674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13417114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13418637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13423761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425458	1.00[YRI][hapmap]
rs13430254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13430651	0.85[ASN][1000 genomes]
rs13432350	0.87[GIH][hapmap]
rs17673916	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17724205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17724860	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17725024	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1860852	0.80[ASN][1000 genomes]
rs194235	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194239	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs194242	0.86[ASN][1000 genomes]
rs194243	0.86[ASN][1000 genomes]
rs2041563	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041564	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2109963	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2192014	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2192015	0.92[GIH][hapmap]
rs28278	0.86[ASN][1000 genomes]
rs34837782	0.80[ASN][1000 genomes]
rs41386	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap]
rs41387	1.00[CHB][hapmap]
rs41388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41389	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41390	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41391	0.86[ASN][1000 genomes]
rs41392	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41393	1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41394	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41395	0.87[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41396	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41397	0.80[ASN][1000 genomes]
rs41398	1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[ASN][1000 genomes]
rs41399	1.00[CHB][hapmap]
rs41400	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41401	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41402	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41403	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41405	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs41406	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs41408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41410	0.87[CEU][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41411	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41412	0.87[GIH][hapmap];0.80[ASN][1000 genomes]
rs41413	0.87[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41414	0.80[ASN][1000 genomes]
rs41415	0.83[GIH][hapmap]
rs41416	0.83[GIH][hapmap]
rs41417	0.87[GIH][hapmap]
rs41418	0.80[ASN][1000 genomes]
rs41419	0.80[ASN][1000 genomes]
rs4852285	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852288	0.87[GIH][hapmap]
rs4852859	0.85[ASN][1000 genomes]
rs4852860	0.93[ASN][1000 genomes]
rs4852861	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852862	0.93[ASN][1000 genomes]
rs55764675	0.85[ASN][1000 genomes]
rs55877105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970539	0.85[ASN][1000 genomes]
rs56299443	0.85[ASN][1000 genomes]
rs62147573	0.85[ASN][1000 genomes]
rs62147579	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147589	0.85[ASN][1000 genomes]
rs62147626	0.85[ASN][1000 genomes]
rs62147629	0.85[ASN][1000 genomes]
rs62147636	0.85[ASN][1000 genomes]
rs6546750	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6546753	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546755	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719255	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6748607	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751276	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760895	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559131	0.87[GIH][hapmap]
rs7583271	0.87[GIH][hapmap]
rs768042	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768043	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9679148	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7565922	MPHOSPH10	cis	cerebellum	SCAN
rs7565922	MOGS	cis	cerebellum	SCAN
rs7565922	TPRKB	cis	cerebellum	SCAN
rs7565922	PCYOX1	cis	cerebellum	SCAN
rs7565922	TGFA	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72432800-72456600	Weak transcription	Psoas Muscle	Psoas
2	chr2:72433000-72460600	Weak transcription	Pancreas	Pancrea
3	chr2:72433200-72442200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:72433200-72450000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:72433200-72450000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:72433200-72466000	Weak transcription	Right Ventricle	heart
7	chr2:72433200-72468600	Weak transcription	Right Atrium	heart
8	chr2:72433400-72450200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:72433600-72442000	Weak transcription	Fetal Stomach	stomach
10	chr2:72438200-72442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:72438200-72446400	Weak transcription	Fetal Heart	heart
12	chr2:72438400-72449800	Weak transcription	HMEC	breast
13	chr2:72439600-72441800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:72439600-72441800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:72440200-72441800	Weak transcription	NHDF-Ad	bronchial
16	chr2:72440400-72445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:72441000-72441800	Enhancers	A549	lung
18	chr2:72441000-72462800	Weak transcription	Left Ventricle	heart
19	chr2:72441600-72441800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:72441600-72442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:72441600-72442400	Enhancers	Hela-S3	cervix
22	chr2:72441600-72442400	Enhancers	HepG2	liver
23	chr2:72441600-72442400	Enhancers	NH-A	brain
24	chr2:72441600-72442400	Enhancers	NHLF	lung
25	chr2:72441600-72442600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:72441600-72442600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:72441600-72442600	Enhancers	HUVEC	blood vessel
28	chr2:72441600-72442600	Enhancers	Osteobl	bone
29	chr2:72441600-72443400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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