Variant report

Variant	rs2175918
Chromosome Location	chr10:50231840-50231841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50229481..50231907-chr10:50238016..50240371,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1055583	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.86[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1877804	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1877805	0.94[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1913518	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1913521	0.94[CEU][hapmap];0.89[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2137920	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2243994	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	0.89[CHB][hapmap];0.97[CHD][hapmap];0.82[YRI][hapmap]
rs2244967	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2253873	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254384	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2254393	0.94[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254409	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2254410	0.94[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254617	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254628	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254740	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2254754	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2255739	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2264848	0.89[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.82[ASN][1000 genomes]
rs2264849	0.89[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs2466751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2466752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2466754	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2466755	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2725199	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
rs2175918	C10orf72	cis	parietal	SCAN

Chromatin state (count:42 , 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	chr10:50231200-50232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:50231200-50232200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:50231200-50232400	Enhancers	Brain Hippocampus Middle	brain
18	chr10:50231200-50232400	Enhancers	Rectal Smooth Muscle	rectum
19	chr10:50231200-50232800	Enhancers	Brain Substantia Nigra	brain
20	chr10:50231200-50232800	Enhancers	Fetal Stomach	stomach
21	chr10:50231400-50232000	Weak transcription	Brain Angular Gyrus	brain
22	chr10:50231400-50232800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:50231400-50232800	Enhancers	Right Ventricle	heart
24	chr10:50231400-50233000	Enhancers	Adipose Nuclei	Adipose
25	chr10:50231400-50233000	Enhancers	Colon Smooth Muscle	Colon
26	chr10:50231400-50233600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:50231400-50233800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:50231400-50234000	Genic enhancers	Fetal Muscle Leg	muscle
29	chr10:50231400-50234400	Enhancers	Ovary	ovary
30	chr10:50231600-50232000	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:50231600-50232200	Enhancers	Fetal Kidney	kidney
32	chr10:50231600-50232400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:50231600-50232400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr10:50231600-50232600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:50231600-50232600	Enhancers	Psoas Muscle	Psoas
36	chr10:50231600-50233000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:50231600-50233000	Enhancers	Stomach Smooth Muscle	stomach
38	chr10:50231600-50234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:50231600-50234200	Enhancers	Fetal Intestine Small	intestine
40	chr10:50231800-50232200	Weak transcription	Placenta	Placenta
41	chr10:50231800-50232200	Weak transcription	Left Ventricle	heart
42	chr10:50231800-50232800	Enhancers	Right Atrium	heart

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