Variant report

Variant	rs10110149
Chromosome Location	chr8:119344964-119344965
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	chr8:119344779..119346281-chr8:119346898..119348552,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10087006	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102091	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10102185	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10102483	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10481135	0.90[ASN][1000 genomes]
rs10955871	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782250	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12155712	0.89[ASN][1000 genomes]
rs12156385	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1385806	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1385807	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1545925	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1843535	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1905938	0.81[AMR][1000 genomes]
rs2062425	0.92[EUR][1000 genomes]
rs2062426	0.92[EUR][1000 genomes]
rs28493856	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28508414	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28558308	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34008405	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34458847	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34727859	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35027398	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35246465	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35595491	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35812722	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3802185	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4496996	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4571758	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4592080	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4593580	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4628280	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4876409	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6469731	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6469732	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6469733	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6469734	0.94[ASN][1000 genomes]
rs6980537	0.90[ASN][1000 genomes]
rs6980779	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6983634	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6987634	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988788	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988804	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991597	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6993640	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993964	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994852	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996584	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996602	0.93[ASN][1000 genomes]
rs7008800	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009206	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7010323	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7013508	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018387	0.84[ASN][1000 genomes]
rs71515964	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7817627	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7818835	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7819713	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7820290	0.82[EUR][1000 genomes]
rs7820498	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7823536	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7823689	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7827637	0.89[ASN][1000 genomes]
rs7828165	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7828224	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7828542	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7831174	0.93[ASN][1000 genomes]
rs7831226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836216	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7837752	0.85[EUR][1000 genomes]
rs7838723	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7841049	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7841856	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9642839	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9694445	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10110149	DSCC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
2	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
4	chr8:119330800-119361000	Weak transcription	Pancreas	Pancrea
5	chr8:119336000-119345200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:119338000-119348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:119343600-119346400	Enhancers	NHDF-Ad	bronchial
8	chr8:119343800-119346200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:119343800-119346200	Enhancers	NHLF	lung
10	chr8:119344000-119366000	Weak transcription	Gastric	stomach
11	chr8:119344200-119346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119344200-119346200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:119344400-119345800	Enhancers	A549	lung
14	chr8:119344400-119346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119344600-119345000	Enhancers	HSMM	muscle
16	chr8:119344600-119345400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:119344600-119345400	Flanking Active TSS	HUVEC	blood vessel
18	chr8:119344600-119345600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:119344600-119345600	Flanking Active TSS	NH-A	brain
20	chr8:119344600-119345600	Flanking Active TSS	Osteobl	bone
21	chr8:119344600-119345800	Enhancers	HSMMtube	muscle
22	chr8:119344600-119345800	Flanking Active TSS	NHEK	skin
23	chr8:119344600-119346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:119344600-119346200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:119344600-119346200	Enhancers	Spleen	Spleen
26	chr8:119344600-119346200	Enhancers	HMEC	breast
27	chr8:119344800-119345000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:119344800-119345000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:119344800-119345000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:119344800-119345200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:119344800-119345600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:119344800-119345600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:119344800-119345600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:119344800-119345600	Enhancers	Adipose Nuclei	Adipose
35	chr8:119344800-119345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:119344800-119345800	Enhancers	Placenta	Placenta
37	chr8:119344800-119346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:119344800-119346200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:119344800-119346200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:119344800-119346200	Enhancers	Right Atrium	heart

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