Variant report

Variant	rs71627578
Chromosome Location	chr5:43128627-43128628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43127832..43129519-chr5:43482925..43484935,2	K562	blood:
2	chr5:43118961..43124216-chr5:43126476..43129492,5	MCF-7	breast:
3	chr5:43126484..43129150-chr5:43135547..43138439,2	K562	blood:
4	chr5:43064780..43067998-chr5:43126441..43129166,3	K562	blood:
5	chr5:43127309..43129273-chr5:43143487..43145266,2	K562	blood:
6	chr5:43128367..43129950-chr5:43132099..43134344,2	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1001717	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652363	0.90[ASN][1000 genomes]
rs12654798	0.89[ASN][1000 genomes]
rs12657208	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659721	0.94[ASN][1000 genomes]
rs13153077	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13153860	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13154654	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13158800	0.94[EUR][1000 genomes]
rs13159390	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13161127	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13163892	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164183	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13166780	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13167375	0.84[EUR][1000 genomes]
rs13167690	0.97[EUR][1000 genomes]
rs13171192	0.85[EUR][1000 genomes]
rs13171253	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172378	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13174772	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178478	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181290	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13182652	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13186091	0.95[EUR][1000 genomes]
rs13186549	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13189565	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13189574	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13190109	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873177	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17242731	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242995	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17243023	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17243086	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17243165	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17243515	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17302596	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17302931	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005510	0.97[EUR][1000 genomes]
rs2291632	0.95[ASN][1000 genomes]
rs28548198	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34071473	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34205479	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34242142	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34258100	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34302880	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34333393	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34375419	0.97[EUR][1000 genomes]
rs34448278	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34517361	0.84[EUR][1000 genomes]
rs34552214	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34973629	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34992478	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35018789	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35106307	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35199583	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35230086	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35285338	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35321959	0.90[EUR][1000 genomes]
rs35397154	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35484826	0.97[EUR][1000 genomes]
rs35593061	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35645372	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35665483	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35673052	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35754881	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35759340	0.91[EUR][1000 genomes]
rs35839054	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35855029	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35859204	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35949944	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35998500	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36054188	0.99[EUR][1000 genomes]
rs36106080	0.91[EUR][1000 genomes]
rs36122541	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36125638	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752831	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752832	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797306	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797307	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797308	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797309	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56889091	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56923657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58028166	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67190423	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67596313	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67756718	0.99[EUR][1000 genomes]
rs71590635	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627575	0.97[EUR][1000 genomes]
rs71627579	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627580	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627583	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627584	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627585	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71627586	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71627587	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748883	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748886	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72748897	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72750704	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72750764	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72750780	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73092493	0.90[ASN][1000 genomes]
rs782988	0.90[ASN][1000 genomes]
rs878234	0.97[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
rs71627578	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	chr5:43122600-43129200	Weak transcription	Gastric	stomach
2	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
3	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
4	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:43122800-43128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
8	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
10	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
16	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:43124000-43128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:43124000-43129000	Strong transcription	NH-A	brain
19	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr5:43124000-43130600	Strong transcription	HSMM	muscle
24	chr5:43124000-43130800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
28	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
29	chr5:43124200-43129800	Strong transcription	Placenta	Placenta
30	chr5:43124200-43130000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:43124200-43133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
35	chr5:43124400-43130000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:43124400-43130000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:43124400-43130200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr5:43124400-43130600	Strong transcription	Liver	Liver
39	chr5:43124400-43131600	Strong transcription	Fetal Stomach	stomach
40	chr5:43124400-43133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:43124400-43133200	Weak transcription	Stomach Mucosa	stomach
42	chr5:43124400-43134600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:43124400-43134600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:43124400-43138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
47	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:43124600-43130600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:43124600-43133600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:43124600-43134000	Strong transcription	Rectal Mucosa Donor 29	rectum

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