Variant report

Variant	rs34315422
Chromosome Location	chr5:43096271-43096272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43076850..43080824-chr5:43095095..43097959,3	K562	blood:
2	chr5:42718003..42720870-chr5:43094182..43097027,2	K562	blood:
3	chr5:43095711..43097819-chr5:43103481..43105400,3	K562	blood:
4	chr5:43074261..43076510-chr5:43094818..43096635,2	K562	blood:
5	chr5:43094835..43097495-chr5:43104345..43107086,3	K562	blood:
6	chr5:43064520..43066629-chr5:43094259..43097477,3	K562	blood:
7	chr5:43092626..43095630-chr5:43095967..43099221,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1032434	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10454865	0.93[ASN][1000 genomes]
rs10941607	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10941608	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11550285	0.87[ASN][1000 genomes]
rs11550286	0.88[ASN][1000 genomes]
rs11550287	0.88[ASN][1000 genomes]
rs11740797	0.93[ASN][1000 genomes]
rs11742691	0.93[ASN][1000 genomes]
rs11748187	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11949817	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11956243	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13155513	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13159703	0.93[ASN][1000 genomes]
rs13169563	0.93[ASN][1000 genomes]
rs13173064	0.90[ASN][1000 genomes]
rs17301375	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2452831	0.95[ASN][1000 genomes]
rs316405	0.95[ASN][1000 genomes]
rs316409	0.95[ASN][1000 genomes]
rs316410	0.95[ASN][1000 genomes]
rs316411	0.95[ASN][1000 genomes]
rs316418	0.90[ASN][1000 genomes]
rs3207358	0.95[ASN][1000 genomes]
rs34670023	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34808919	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34859360	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35085573	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35541316	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs36039989	0.88[ASN][1000 genomes]
rs36083302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733839	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs493097	0.95[ASN][1000 genomes]
rs504404	0.93[ASN][1000 genomes]
rs581914	0.93[ASN][1000 genomes]
rs62367685	0.90[ASN][1000 genomes]
rs62367688	0.92[ASN][1000 genomes]
rs6451672	0.81[ASN][1000 genomes]
rs670206	0.93[ASN][1000 genomes]
rs6864223	0.88[ASN][1000 genomes]
rs7709181	0.92[ASN][1000 genomes]
rs7729529	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3449037	chr5:43093895-43097893	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	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
rs34315422	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
2	chr5:43071800-43098400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:43071800-43101600	Weak transcription	Esophagus	oesophagus
4	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:43075600-43096600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:43075600-43101600	Weak transcription	Left Ventricle	heart
8	chr5:43075600-43105000	Weak transcription	NHLF	lung
9	chr5:43075600-43105400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:43075600-43105400	Weak transcription	Psoas Muscle	Psoas
11	chr5:43075800-43103000	Weak transcription	Spleen	Spleen
12	chr5:43075800-43105400	Weak transcription	Right Ventricle	heart
13	chr5:43075800-43105600	Weak transcription	Pancreas	Pancrea
14	chr5:43076000-43104200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:43076200-43096400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:43076200-43105400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:43076400-43099800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:43076600-43096600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:43077800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:43078600-43104200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:43079400-43105400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:43080200-43105600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:43080800-43104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:43081000-43105600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:43081200-43105400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:43081200-43105400	Weak transcription	NHDF-Ad	bronchial
27	chr5:43081400-43105400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:43081400-43105400	Weak transcription	Brain Anterior Caudate	brain
29	chr5:43081400-43105400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:43081800-43105400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:43081800-43105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:43082000-43105400	Weak transcription	Liver	Liver
33	chr5:43082200-43104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:43082400-43096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:43082400-43105400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:43084800-43105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:43084800-43105400	Weak transcription	Fetal Kidney	kidney
38	chr5:43085000-43105400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:43085000-43105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:43085400-43104600	Weak transcription	Osteobl	bone
41	chr5:43085800-43101600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:43085800-43104200	Weak transcription	Thymus	Thymus
43	chr5:43086000-43096800	Weak transcription	Fetal Lung	lung
44	chr5:43086000-43105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:43086000-43105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:43086000-43106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:43086400-43105400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:43088400-43101800	Weak transcription	Right Atrium	heart
49	chr5:43090200-43096600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:43090600-43104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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