Variant report

Variant	rs72748886
Chromosome Location	chr5:43125828-43125829
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43124778..43127199-chr5:43415095..43418069,2	K562	blood:
2	chr5:43120765..43125898-chr5:43482451..43485837,5	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1001717	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652363	0.87[ASN][1000 genomes]
rs12654798	0.85[ASN][1000 genomes]
rs12657208	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12659721	0.90[ASN][1000 genomes]
rs13153077	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13153860	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13154654	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13158800	0.86[EUR][1000 genomes]
rs13159390	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13161127	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13163892	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13164183	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13166780	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13167690	0.90[EUR][1000 genomes]
rs13171253	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13172378	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13174772	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13178478	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13180978	0.83[AFR][1000 genomes]
rs13181290	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13182652	0.94[ASN][1000 genomes]
rs13186091	0.85[EUR][1000 genomes]
rs13186549	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13189565	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189574	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13190109	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16873177	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17242731	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17242995	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17243023	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17243086	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17243165	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17243515	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17302596	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17302931	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2005510	0.87[EUR][1000 genomes]
rs2291632	0.91[ASN][1000 genomes]
rs28548198	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34071473	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34205479	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34242142	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34258100	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34302880	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34333393	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34375419	0.90[EUR][1000 genomes]
rs34448278	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34552214	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34973629	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34992478	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35018789	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35106307	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35199583	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35230086	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35285338	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35321959	0.82[EUR][1000 genomes]
rs35397154	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35484826	0.87[EUR][1000 genomes]
rs35593061	0.83[ASN][1000 genomes]
rs35645372	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35665483	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35673052	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35754881	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35759340	0.83[EUR][1000 genomes]
rs35839054	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35855029	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35859204	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35949944	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35998500	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36054188	0.91[EUR][1000 genomes]
rs36106080	0.83[EUR][1000 genomes]
rs36122541	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36125638	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752831	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752832	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3797306	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797307	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797308	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797309	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56889091	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56923657	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58028166	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67190423	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67596313	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67756718	0.91[EUR][1000 genomes]
rs71590635	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71627575	0.87[EUR][1000 genomes]
rs71627578	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71627579	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71627580	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71627583	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71627584	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71627585	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71627586	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71627587	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72748883	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72748897	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72750704	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750764	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72750780	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73092493	0.87[ASN][1000 genomes]
rs782988	0.86[ASN][1000 genomes]
rs878234	0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72748886	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43126400	Weak transcription	Lung	lung
2	chr5:43122600-43126400	Weak transcription	Spleen	Spleen
3	chr5:43122600-43129200	Weak transcription	Gastric	stomach
4	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
5	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
6	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:43122800-43126200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:43122800-43127400	Weak transcription	Ovary	ovary
10	chr5:43122800-43128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
12	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
14	chr5:43123000-43126000	Weak transcription	HSMMtube	muscle
15	chr5:43123000-43126600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:43123200-43126000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:43123400-43126200	Enhancers	Fetal Brain Male	brain
19	chr5:43123400-43127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr5:43123800-43126200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:43123800-43126800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:43123800-43127400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:43124000-43127200	Weak transcription	Brain Angular Gyrus	brain
30	chr5:43124000-43128400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:43124000-43128400	Strong transcription	Fetal Lung	lung
32	chr5:43124000-43128600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr5:43124000-43128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:43124000-43129000	Strong transcription	NH-A	brain
35	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr5:43124000-43130600	Strong transcription	HSMM	muscle
40	chr5:43124000-43130800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
44	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
45	chr5:43124200-43126000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:43124200-43126000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:43124200-43126200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:43124200-43126400	Weak transcription	Right Ventricle	heart
49	chr5:43124200-43126800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:43124200-43128400	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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