Variant report

Variant	rs34517361
Chromosome Location	chr5:43098707-43098708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43097961..43099842-chr5:43101388..43103313,2	K562	blood:
2	chr5:43081052..43083620-chr5:43097033..43099187,2	K562	blood:
3	chr5:43092626..43095630-chr5:43095967..43099221,3	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1001717	0.82[EUR][1000 genomes]
rs1084520	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550288	1.00[ASN][1000 genomes]
rs12657208	0.87[EUR][1000 genomes]
rs13153077	0.82[EUR][1000 genomes]
rs13153860	0.82[EUR][1000 genomes]
rs13156403	1.00[ASN][1000 genomes]
rs13156729	1.00[ASN][1000 genomes]
rs13158147	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158800	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13159390	0.82[EUR][1000 genomes]
rs13160133	1.00[ASN][1000 genomes]
rs13161127	0.81[EUR][1000 genomes]
rs13163892	0.82[EUR][1000 genomes]
rs13164183	0.82[EUR][1000 genomes]
rs13166780	0.81[EUR][1000 genomes]
rs13167375	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167690	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13167991	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169195	1.00[ASN][1000 genomes]
rs13170322	1.00[ASN][1000 genomes]
rs13170959	1.00[ASN][1000 genomes]
rs13171192	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171253	0.81[EUR][1000 genomes]
rs13172378	0.81[EUR][1000 genomes]
rs13174226	1.00[ASN][1000 genomes]
rs13174772	0.82[EUR][1000 genomes]
rs13175754	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	1.00[ASN][1000 genomes]
rs13178478	0.82[EUR][1000 genomes]
rs13180496	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181290	0.81[EUR][1000 genomes]
rs13186091	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186549	0.85[EUR][1000 genomes]
rs13189565	0.80[EUR][1000 genomes]
rs13189574	0.81[EUR][1000 genomes]
rs13190109	0.82[EUR][1000 genomes]
rs16873177	0.81[EUR][1000 genomes]
rs17242731	0.82[EUR][1000 genomes]
rs17242995	0.81[EUR][1000 genomes]
rs17243023	0.81[EUR][1000 genomes]
rs17243086	0.81[EUR][1000 genomes]
rs17243515	0.85[EUR][1000 genomes]
rs17302596	0.81[EUR][1000 genomes]
rs17302931	0.84[EUR][1000 genomes]
rs17303482	1.00[ASN][1000 genomes]
rs2005510	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2085100	1.00[ASN][1000 genomes]
rs28548198	0.82[EUR][1000 genomes]
rs34071473	0.81[EUR][1000 genomes]
rs34157680	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205479	0.81[EUR][1000 genomes]
rs34215864	1.00[ASN][1000 genomes]
rs34242142	0.82[EUR][1000 genomes]
rs34258100	0.82[EUR][1000 genomes]
rs34333393	0.81[EUR][1000 genomes]
rs34345245	1.00[ASN][1000 genomes]
rs34375419	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34448278	0.82[EUR][1000 genomes]
rs34552214	0.81[EUR][1000 genomes]
rs34735159	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810824	1.00[ASN][1000 genomes]
rs34924673	0.82[EUR][1000 genomes]
rs34967469	1.00[ASN][1000 genomes]
rs34973629	0.81[EUR][1000 genomes]
rs34992478	0.81[EUR][1000 genomes]
rs35018789	0.81[EUR][1000 genomes]
rs35030460	1.00[ASN][1000 genomes]
rs35106307	0.82[EUR][1000 genomes]
rs35197809	1.00[ASN][1000 genomes]
rs35199583	0.82[EUR][1000 genomes]
rs35230086	0.81[EUR][1000 genomes]
rs35285338	0.82[EUR][1000 genomes]
rs35321959	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35322710	1.00[ASN][1000 genomes]
rs35334781	1.00[ASN][1000 genomes]
rs35397154	0.82[EUR][1000 genomes]
rs35484387	1.00[ASN][1000 genomes]
rs35484826	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35593061	0.81[EUR][1000 genomes]
rs35594379	1.00[ASN][1000 genomes]
rs35645372	0.82[EUR][1000 genomes]
rs35673052	0.82[EUR][1000 genomes]
rs35754881	0.82[EUR][1000 genomes]
rs35756781	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35759340	0.85[EUR][1000 genomes]
rs35764948	1.00[ASN][1000 genomes]
rs35839054	0.85[EUR][1000 genomes]
rs35855029	0.82[EUR][1000 genomes]
rs35859204	0.85[EUR][1000 genomes]
rs35949944	0.81[EUR][1000 genomes]
rs35998500	0.81[EUR][1000 genomes]
rs36048737	1.00[ASN][1000 genomes]
rs36054188	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36106080	0.85[EUR][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs36122541	0.81[EUR][1000 genomes]
rs36125638	0.81[EUR][1000 genomes]
rs3752831	0.82[EUR][1000 genomes]
rs3752832	0.82[EUR][1000 genomes]
rs3797306	0.82[EUR][1000 genomes]
rs3797307	0.82[EUR][1000 genomes]
rs3797308	0.82[EUR][1000 genomes]
rs3797309	0.82[EUR][1000 genomes]
rs503965	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs505573	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56889091	0.82[EUR][1000 genomes]
rs58028166	0.85[EUR][1000 genomes]
rs614386	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632730	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67190423	0.81[EUR][1000 genomes]
rs67596313	0.82[EUR][1000 genomes]
rs67756718	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71590635	0.81[EUR][1000 genomes]
rs71627567	1.00[ASN][1000 genomes]
rs71627575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71627578	0.84[EUR][1000 genomes]
rs71627579	0.81[EUR][1000 genomes]
rs71627580	0.81[EUR][1000 genomes]
rs71627584	0.81[EUR][1000 genomes]
rs71627585	0.82[EUR][1000 genomes]
rs71627586	0.82[EUR][1000 genomes]
rs71627587	0.84[EUR][1000 genomes]
rs72748883	0.82[EUR][1000 genomes]
rs72748897	0.82[EUR][1000 genomes]
rs72750704	0.82[EUR][1000 genomes]
rs72750764	0.82[EUR][1000 genomes]
rs72750780	0.81[EUR][1000 genomes]
rs878234	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	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
rs34517361	ZNF131	Cis_1M	lymphoblastoid	RTeQTL
rs34517361	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
2	chr5:43071800-43101600	Weak transcription	Esophagus	oesophagus
3	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:43075600-43101600	Weak transcription	Left Ventricle	heart
6	chr5:43075600-43105000	Weak transcription	NHLF	lung
7	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas
9	chr5:43075800-43103000	Weak transcription	Spleen	Spleen
10	chr5:43075800-43105400	Weak transcription	Right Ventricle	heart
11	chr5:43075800-43105600	Weak transcription	Pancreas	Pancrea
12	chr5:43076000-43104200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:43076200-43105400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:43076400-43099800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43077800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:43078600-43104200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:43079400-43105400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:43080200-43105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:43080800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:43081000-43105600	Weak transcription	Brain Germinal Matrix	brain
21	chr5:43081200-43105400	Weak transcription	Brain Substantia Nigra	brain
22	chr5:43081200-43105400	Weak transcription	NHDF-Ad	bronchial
23	chr5:43081400-43105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:43081400-43105400	Weak transcription	Brain Anterior Caudate	brain
25	chr5:43081400-43105400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:43081800-43105400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:43081800-43105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:43082000-43105400	Weak transcription	Liver	Liver
29	chr5:43082200-43104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:43082400-43105400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:43084800-43105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:43084800-43105400	Weak transcription	Fetal Kidney	kidney
33	chr5:43085000-43105400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:43085000-43105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:43085400-43104600	Weak transcription	Osteobl	bone
36	chr5:43085800-43101600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:43085800-43104200	Weak transcription	Thymus	Thymus
38	chr5:43086000-43105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:43086000-43105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:43086000-43106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:43086400-43105400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:43088400-43101800	Weak transcription	Right Atrium	heart
43	chr5:43090600-43104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:43091400-43105400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:43091600-43105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:43092000-43104200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:43092200-43105400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:43092400-43104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:43092400-43105400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:43092800-43105200	Weak transcription	Primary B cells from peripheral blood	blood

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