Variant report

Variant	rs35593061
Chromosome Location	chr5:43187022-43187023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1001717	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12652363	0.86[ASN][1000 genomes]
rs12657208	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12659721	0.83[ASN][1000 genomes]
rs13153077	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153860	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13154654	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13158800	0.93[EUR][1000 genomes]
rs13159390	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13161127	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13163892	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13164183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13166780	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13167375	0.81[EUR][1000 genomes]
rs13167690	0.87[EUR][1000 genomes]
rs13171192	0.82[EUR][1000 genomes]
rs13171253	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13172378	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13174772	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13178478	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13181290	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13182652	0.88[ASN][1000 genomes]
rs13186091	0.87[EUR][1000 genomes]
rs13186549	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13189565	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13189574	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13190109	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16873177	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17242731	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17242995	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17243023	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17243086	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17243165	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17243515	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17302596	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17302931	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2005510	0.84[EUR][1000 genomes]
rs2291632	0.82[ASN][1000 genomes]
rs28548198	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34071473	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34205479	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34242142	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34258100	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34302880	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34333393	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34375419	0.87[EUR][1000 genomes]
rs34448278	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34517361	0.81[EUR][1000 genomes]
rs34552214	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34973629	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34992478	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35018789	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35106307	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35199583	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35230086	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35285338	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35321959	0.89[EUR][1000 genomes]
rs35397154	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35484826	0.84[EUR][1000 genomes]
rs35645372	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35665483	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35673052	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35754881	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35759340	0.95[EUR][1000 genomes]
rs35839054	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35855029	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35859204	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35949944	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35998500	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36054188	0.88[EUR][1000 genomes]
rs36106080	0.95[EUR][1000 genomes]
rs36122541	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36125638	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752831	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752832	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3797306	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797307	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797308	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797309	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56889091	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56923657	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58028166	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67190423	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67596313	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67756718	0.88[EUR][1000 genomes]
rs71590635	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71627575	0.84[EUR][1000 genomes]
rs71627578	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71627579	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71627580	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71627583	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71627584	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71627585	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71627586	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71627587	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72748883	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72748886	0.83[ASN][1000 genomes]
rs72748897	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72750704	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72750764	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72750780	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73092493	0.86[ASN][1000 genomes]
rs782988	0.85[ASN][1000 genomes]
rs878234	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35593061	ZNF131	Cis_1M	lymphoblastoid	RTeQTL
rs35593061	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
3	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:43175200-43190200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:43175200-43191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:43175200-43191000	Weak transcription	Brain Angular Gyrus	brain
10	chr5:43175200-43191000	Weak transcription	Brain Anterior Caudate	brain
11	chr5:43175200-43191000	Weak transcription	Ovary	ovary
12	chr5:43175200-43191000	Weak transcription	NHLF	lung
13	chr5:43175200-43191200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:43175200-43191200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:43175200-43191200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:43175400-43190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:43175400-43191000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:43175400-43191400	Weak transcription	Fetal Brain Female	brain
22	chr5:43175400-43191400	Weak transcription	Fetal Kidney	kidney
23	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
25	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea
26	chr5:43175400-43191800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:43175400-43192200	Weak transcription	HSMM	muscle
28	chr5:43175800-43191400	Weak transcription	Brain Germinal Matrix	brain
29	chr5:43175800-43191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:43176000-43191800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
32	chr5:43177800-43189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:43177800-43191600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:43178000-43188400	Weak transcription	Fetal Thymus	thymus
35	chr5:43178000-43191600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:43178000-43191800	Weak transcription	Esophagus	oesophagus
37	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
38	chr5:43178200-43191000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:43178200-43191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:43178200-43191800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:43178200-43191800	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:43178400-43190600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:43178400-43191200	Weak transcription	Liver	Liver
44	chr5:43178400-43191800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:43178800-43191400	Weak transcription	Fetal Stomach	stomach
46	chr5:43180800-43191600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:43181200-43191600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:43181400-43188000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:43181400-43190600	Weak transcription	Thymus	Thymus
50	chr5:43181400-43191000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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