Variant report

Variant	rs1690994
Chromosome Location	chr5:43182846-43182847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12518336	0.83[EUR][1000 genomes]
rs1618891	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1624415	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1628981	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1690997	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453308	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs479996	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs499436	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs511340	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs512040	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512921	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs521649	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544402	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555276	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs557076	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs567884	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs574051	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57689195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579337	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs579363	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61004923	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61121229	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6892422	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs782971	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs782972	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782976	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs782977	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs782978	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs782984	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782987	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782989	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782994	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782996	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs903391	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1690994	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
2	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
4	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:43175200-43183600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43175200-43190200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:43175200-43191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:43175200-43191000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:43175200-43191000	Weak transcription	Brain Anterior Caudate	brain
13	chr5:43175200-43191000	Weak transcription	Ovary	ovary
14	chr5:43175200-43191000	Weak transcription	NHLF	lung
15	chr5:43175200-43191200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:43175200-43191200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:43175200-43191200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:43175400-43185000	Weak transcription	Psoas Muscle	Psoas
22	chr5:43175400-43190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:43175400-43191000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43175400-43191400	Weak transcription	Fetal Brain Female	brain
25	chr5:43175400-43191400	Weak transcription	Fetal Kidney	kidney
26	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
28	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea
29	chr5:43175400-43191800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:43175400-43192200	Weak transcription	HSMM	muscle
31	chr5:43175800-43184000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:43175800-43191400	Weak transcription	Brain Germinal Matrix	brain
33	chr5:43175800-43191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:43176000-43191800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:43176800-43183800	Weak transcription	Fetal Intestine Large	intestine
36	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
37	chr5:43177800-43189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:43177800-43191600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:43178000-43188400	Weak transcription	Fetal Thymus	thymus
40	chr5:43178000-43191600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:43178000-43191800	Weak transcription	Esophagus	oesophagus
42	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
43	chr5:43178200-43183800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:43178200-43191000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:43178200-43191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:43178200-43191800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:43178200-43191800	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:43178400-43190600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:43178400-43191200	Weak transcription	Liver	Liver
50	chr5:43178400-43191800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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