Variant report

Variant	rs2243994
Chromosome Location	chr10:50232286-50232287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1055583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1877804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877805	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913518	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1913519	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1913521	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996185	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2137920	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175918	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2244575	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs2244967	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245145	0.91[ASN][1000 genomes]
rs2245147	0.91[ASN][1000 genomes]
rs2245149	0.91[ASN][1000 genomes]
rs2245162	0.91[ASN][1000 genomes]
rs2245165	0.88[ASN][1000 genomes]
rs2253873	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254384	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2254393	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254409	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2254410	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254740	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2254754	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254863	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2255253	0.92[ASN][1000 genomes]
rs2255360	0.94[ASN][1000 genomes]
rs2255739	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255943	0.92[ASN][1000 genomes]
rs2264555	0.92[ASN][1000 genomes]
rs2264844	0.92[ASN][1000 genomes]
rs2264848	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs2264849	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs2458672	0.92[ASN][1000 genomes]
rs2466751	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466754	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2466755	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2725199	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955063	0.91[ASN][1000 genomes]
rs883017	0.94[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	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2243994	C10orf72	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
2	chr10:50220400-50233600	Weak transcription	Gastric	stomach
3	chr10:50221000-50233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:50221800-50232400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:50222000-50233800	Weak transcription	Lung	lung
6	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
8	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
9	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:50227800-50232400	Weak transcription	Aorta	Aorta
11	chr10:50227800-50237400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:50227800-50238800	Weak transcription	HSMMtube	muscle
13	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:50230800-50233400	Enhancers	Fetal Lung	lung
15	chr10:50231200-50232400	Enhancers	Brain Hippocampus Middle	brain
16	chr10:50231200-50232400	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:50231200-50232800	Enhancers	Brain Substantia Nigra	brain
18	chr10:50231200-50232800	Enhancers	Fetal Stomach	stomach
19	chr10:50231400-50232800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:50231400-50232800	Enhancers	Right Ventricle	heart
21	chr10:50231400-50233000	Enhancers	Adipose Nuclei	Adipose
22	chr10:50231400-50233000	Enhancers	Colon Smooth Muscle	Colon
23	chr10:50231400-50233600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr10:50231400-50233800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:50231400-50234000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr10:50231400-50234400	Enhancers	Ovary	ovary
27	chr10:50231600-50232400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr10:50231600-50232400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr10:50231600-50232600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:50231600-50232600	Enhancers	Psoas Muscle	Psoas
31	chr10:50231600-50233000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:50231600-50233000	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:50231600-50234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr10:50231600-50234200	Enhancers	Fetal Intestine Small	intestine
35	chr10:50231800-50232800	Enhancers	Right Atrium	heart
36	chr10:50232000-50232600	Enhancers	Brain Angular Gyrus	brain
37	chr10:50232200-50232600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:50232200-50234000	Enhancers	Placenta	Placenta
39	chr10:50232200-50234000	Enhancers	Left Ventricle	heart
40	chr10:50232200-50241800	Weak transcription	Fetal Kidney	kidney

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