Variant report

Variant	rs1105983
Chromosome Location	chr5:42871462-42871463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10036147	0.91[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10038990	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041108	1.00[CHB][hapmap]
rs10045847	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056315	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061198	0.88[EUR][1000 genomes]
rs10067153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070118	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070249	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072083	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072749	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951328	1.00[ASN][1000 genomes]
rs13168440	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13170322	1.00[CHB][hapmap]
rs13171505	1.00[ASN][1000 genomes]
rs13172646	1.00[ASN][1000 genomes]
rs13174226	1.00[CHB][hapmap]
rs13176080	1.00[CHB][hapmap]
rs13187223	1.00[ASN][1000 genomes]
rs13189374	1.00[ASN][1000 genomes]
rs13356418	0.91[ASW][hapmap]
rs2081164	1.00[ASN][1000 genomes]
rs2085100	1.00[CHB][hapmap]
rs28705009	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28919899	1.00[ASN][1000 genomes]
rs28919913	1.00[ASN][1000 genomes]
rs34086275	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34829612	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34831882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981544	0.88[EUR][1000 genomes]
rs35904649	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3877899	1.00[ASN][1000 genomes]
rs4283796	1.00[ASN][1000 genomes]
rs4482913	0.88[EUR][1000 genomes]
rs5025611	1.00[CHB][hapmap]
rs632730	1.00[CHB][hapmap]
rs6413428	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6414898	1.00[CHB][hapmap]
rs6451634	1.00[CHB][hapmap]
rs6451641	1.00[CHB][hapmap]
rs6451643	1.00[CHB][hapmap]
rs6451649	0.88[EUR][1000 genomes]
rs6451650	0.88[EUR][1000 genomes]
rs6451651	0.91[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6451653	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs6451654	0.91[CEU][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs6863953	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867854	0.82[EUR][1000 genomes]
rs6873340	1.00[CHB][hapmap]
rs6881608	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs6895458	0.88[EUR][1000 genomes]
rs6895751	0.88[EUR][1000 genomes]
rs6896899	1.00[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627561	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7444761	1.00[CHB][hapmap]
rs7710105	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722920	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
4	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
6	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
10	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
11	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1105983	OSMR	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42870200-42874000	Enhancers	HepG2	liver
2	chr5:42870400-42871600	Enhancers	Fetal Intestine Large	intestine
3	chr5:42870400-42872000	Enhancers	Brain Substantia Nigra	brain
4	chr5:42870600-42872200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:42870600-42872200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:42870800-42871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:42870800-42871600	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:42870800-42871600	Enhancers	Fetal Intestine Small	intestine
9	chr5:42870800-42871600	Enhancers	HMEC	breast
10	chr5:42870800-42871800	Enhancers	HSMM	muscle
11	chr5:42870800-42872200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr5:42870800-42872200	Enhancers	Placenta	Placenta
13	chr5:42870800-42873400	Enhancers	Brain Angular Gyrus	brain
14	chr5:42871000-42871600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr5:42871000-42872600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:42871000-42872600	Enhancers	K562	blood
17	chr5:42871200-42871600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:42871200-42871600	Enhancers	Liver	Liver
19	chr5:42871200-42871600	Enhancers	Brain Anterior Caudate	brain
20	chr5:42871200-42871600	Enhancers	Brain Hippocampus Middle	brain
21	chr5:42871200-42871600	Enhancers	Hela-S3	cervix
22	chr5:42871200-42872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:42871400-42871600	Enhancers	Colonic Mucosa	Colon
24	chr5:42871400-42872200	Enhancers	HSMMtube	muscle
25	chr5:42871400-42873000	Weak transcription	Rectal Mucosa Donor 31	rectum

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