Variant report

Variant	rs41394
Chromosome Location	chr2:72424868-72424869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1000523	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1003672	0.93[ASN][1000 genomes]
rs10175915	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap]
rs10178138	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10178847	0.85[ASN][1000 genomes]
rs10181899	0.85[ASN][1000 genomes]
rs10190799	0.93[ASN][1000 genomes]
rs10193543	0.85[ASN][1000 genomes]
rs10196589	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10204415	0.91[GIH][hapmap]
rs10205108	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs10209861	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10221767	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10221769	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs10865390	0.93[ASN][1000 genomes]
rs11126362	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126363	0.93[ASN][1000 genomes]
rs1123199	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1159763	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1159764	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs1159765	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1159766	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs11681809	0.93[ASN][1000 genomes]
rs12466026	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12466112	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13382986	0.85[ASN][1000 genomes]
rs13387630	0.85[ASN][1000 genomes]
rs13389524	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13391463	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13392314	0.85[ASN][1000 genomes]
rs13395204	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13416674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13417114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap]
rs13418637	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs13423761	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13430254	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13430651	0.85[ASN][1000 genomes]
rs13432350	0.95[GIH][hapmap]
rs17673916	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.85[ASN][1000 genomes]
rs17724205	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs17724860	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[ASN][1000 genomes]
rs17725024	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[ASN][1000 genomes]
rs1860852	0.80[ASN][1000 genomes]
rs194235	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs194236	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194237	0.93[ASN][1000 genomes]
rs194238	0.93[ASN][1000 genomes]
rs194239	0.82[ASN][1000 genomes]
rs194240	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194241	0.93[ASN][1000 genomes]
rs194242	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194243	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041563	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs2041564	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2080044	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2109963	1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs2159823	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2192015	0.84[GIH][hapmap]
rs28278	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837782	0.80[ASN][1000 genomes]
rs41386	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs41387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41391	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41393	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41395	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs41396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41397	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41398	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41401	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41403	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41407	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs41409	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41410	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41411	0.87[ASN][1000 genomes]
rs41412	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41413	0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs41414	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41415	0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41416	0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41417	0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41418	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41419	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41420	0.86[ASN][1000 genomes]
rs4852285	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4852286	0.87[GIH][hapmap]
rs4852288	0.95[GIH][hapmap]
rs4852859	0.85[ASN][1000 genomes]
rs4852861	0.86[ASN][1000 genomes]
rs55764675	0.85[ASN][1000 genomes]
rs55877105	0.86[ASN][1000 genomes]
rs55970539	0.85[ASN][1000 genomes]
rs56299443	0.85[ASN][1000 genomes]
rs62147573	0.85[ASN][1000 genomes]
rs62147579	0.86[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]
rs6546752	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6546753	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs6546755	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6719255	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs6748607	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6751276	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6760895	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs7559131	0.95[GIH][hapmap];0.81[TSI][hapmap]
rs7565922	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.86[ASN][1000 genomes]
rs7583271	0.95[GIH][hapmap]
rs768042	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs768043	0.86[ASN][1000 genomes]
rs9309463	1.00[CHB][hapmap];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41394	C20orf24	trans	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72406400-72425800	Weak transcription	Brain Anterior Caudate	brain
2	chr2:72407200-72425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:72409600-72426000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:72412800-72425400	Weak transcription	Stomach Mucosa	stomach
5	chr2:72412800-72429800	Weak transcription	Right Ventricle	heart
6	chr2:72412800-72431000	Weak transcription	Left Ventricle	heart
7	chr2:72415200-72426000	Weak transcription	NHEK	skin
8	chr2:72415400-72426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:72415400-72430800	Weak transcription	Placenta	Placenta
10	chr2:72419000-72430800	Weak transcription	Small Intestine	intestine
11	chr2:72419600-72429200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:72420000-72425800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:72422200-72430400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:72424200-72425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:72424400-72425000	Enhancers	Aorta	Aorta
16	chr2:72424400-72427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:72424600-72426400	Weak transcription	Esophagus	oesophagus
18	chr2:72424600-72429600	Weak transcription	Right Atrium	heart

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