Variant report

Variant	rs10055011
Chromosome Location	chr5:74798156-74798157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74790647..74794380-chr5:74795733..74800125,4	K562	blood:
2	chr5:74796618..74799716-chr5:74800501..74803148,3	K562	blood:
3	chr5:74796488..74799637-chr5:74801966..74804118,4	MCF-7	breast:
4	chr5:74796142..74801517-chr5:74803647..74808501,9	K562	blood:
5	chr5:74796642..74799069-chr5:75014421..75017256,2	K562	blood:

Variant related genes	Relation type
ENSG00000122008	Chromatin interaction
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10036682	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10038945	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10041470	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10059022	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10061689	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067900	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10074747	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10076819	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10078671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10474437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173076	0.88[EUR][1000 genomes]
rs13360099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361353	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1469051	0.90[EUR][1000 genomes]
rs1553234	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820049	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1909719	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287710	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28408106	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28612248	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668361	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28874007	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804231	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4703671	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4703675	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704213	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56859362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744544	0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744545	0.95[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744636	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5744667	0.85[YRI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744704	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5744709	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744712	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57907925	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58519566	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58841453	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6891560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633963	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72633964	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633965	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633966	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72633967	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633968	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633969	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633970	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633971	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633972	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633973	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633974	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633975	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633976	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633977	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356633	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7726478	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904743	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9293652	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9293654	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293655	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs979182	0.85[CHD][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10055011	ARSB	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74762200-74805800	Weak transcription	Pancreas	Pancrea
2	chr5:74764800-74798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74765200-74804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:74770400-74805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:74775200-74804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:74778600-74806400	Weak transcription	Gastric	stomach
7	chr5:74778800-74805400	Weak transcription	HMEC	breast
8	chr5:74779000-74804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:74782600-74805400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:74783000-74803000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:74784000-74803200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:74785200-74803800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:74785400-74799000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:74785800-74805200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:74785800-74806400	Weak transcription	Spleen	Spleen
16	chr5:74786000-74801200	Weak transcription	A549	lung
17	chr5:74786000-74804600	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:74786200-74800000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:74786200-74800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:74786200-74804000	Weak transcription	Brain Anterior Caudate	brain
21	chr5:74786200-74804400	Weak transcription	Brain Angular Gyrus	brain
22	chr5:74786200-74805600	Weak transcription	Aorta	Aorta
23	chr5:74786400-74805200	Weak transcription	HUVEC	blood vessel
24	chr5:74786400-74805400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:74786400-74805400	Weak transcription	NH-A	brain
26	chr5:74786800-74804600	Weak transcription	NHLF	lung
27	chr5:74787200-74804600	Weak transcription	K562	blood
28	chr5:74787600-74803800	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:74787600-74805200	Weak transcription	HSMMtube	muscle
30	chr5:74787800-74800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:74788000-74800000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:74788000-74803800	Weak transcription	Fetal Kidney	kidney
33	chr5:74788000-74804000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:74788000-74804200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:74788000-74804200	Weak transcription	Liver	Liver
36	chr5:74788200-74800000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:74788200-74803200	Weak transcription	HepG2	liver
38	chr5:74788200-74804000	Weak transcription	Brain Germinal Matrix	brain
39	chr5:74788200-74804600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:74788200-74804600	Weak transcription	Fetal Brain Female	brain
41	chr5:74788200-74804600	Weak transcription	NHEK	skin
42	chr5:74788200-74805800	Weak transcription	Left Ventricle	heart
43	chr5:74788400-74799800	Weak transcription	Osteobl	bone
44	chr5:74788400-74805400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:74788600-74800000	Weak transcription	NHDF-Ad	bronchial
46	chr5:74788600-74805400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:74788800-74805400	Weak transcription	Psoas Muscle	Psoas
48	chr5:74789400-74804600	Weak transcription	Hela-S3	cervix
49	chr5:74792200-74800000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:74792600-74805200	Weak transcription	Rectal Smooth Muscle	rectum

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