Variant report

Variant	rs2452831
Chromosome Location	chr5:43063009-43063010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43014239..43016974-chr5:43061678..43063870,2	MCF-7	breast:
2	chr5:43050477..43052141-chr5:43061752..43064052,2	MCF-7	breast:
3	chr5:43062770..43067811-chr5:43482181..43486392,9	K562	blood:
4	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
5	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
6	chr5:43062602..43064371-chr5:43120154..43123764,3	MCF-7	breast:
7	chr5:43035327..43037045-chr5:43062681..43064782,2	MCF-7	breast:
8	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
9	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
10	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
11	chr5:43045206..43050609-chr5:43062079..43064977,5	K562	blood:
12	chr5:43061295..43063286-chr5:43064759..43067146,4	MCF-7	breast:
13	chr5:43061551..43063587-chr5:43074317..43077057,2	K562	blood:
14	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1032434	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454865	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941607	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941608	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11550285	0.92[ASN][1000 genomes]
rs11550286	0.93[ASN][1000 genomes]
rs11550287	0.93[ASN][1000 genomes]
rs11740797	0.98[ASN][1000 genomes]
rs11742691	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743246	0.80[ASN][1000 genomes]
rs11748187	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750239	0.81[ASN][1000 genomes]
rs11949817	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954543	0.80[ASN][1000 genomes]
rs11956243	0.93[ASN][1000 genomes]
rs12188691	0.82[ASN][1000 genomes]
rs13155513	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159703	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13165504	0.82[ASN][1000 genomes]
rs13169563	0.98[ASN][1000 genomes]
rs13173064	0.95[ASN][1000 genomes]
rs17301375	0.96[ASN][1000 genomes]
rs316398	0.82[ASN][1000 genomes]
rs316405	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316409	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316410	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316411	0.91[ASN][1000 genomes]
rs316418	0.95[ASN][1000 genomes]
rs3207358	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087147	0.80[ASN][1000 genomes]
rs34315422	0.95[ASN][1000 genomes]
rs34492794	0.80[ASN][1000 genomes]
rs34670023	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34808919	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859360	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35085573	0.98[ASN][1000 genomes]
rs35541316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36039989	0.93[ASN][1000 genomes]
rs36083302	0.95[ASN][1000 genomes]
rs3733839	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797312	0.80[ASN][1000 genomes]
rs3849698	0.80[ASN][1000 genomes]
rs3849699	0.82[ASN][1000 genomes]
rs493097	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504404	0.88[ASN][1000 genomes]
rs56169202	0.82[ASN][1000 genomes]
rs581914	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367685	0.95[ASN][1000 genomes]
rs62367688	0.96[ASN][1000 genomes]
rs62372869	0.80[ASN][1000 genomes]
rs670206	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864223	0.93[ASN][1000 genomes]
rs7709181	0.96[ASN][1000 genomes]
rs7729529	0.96[ASN][1000 genomes]
rs9790935	0.82[ASN][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	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2452831	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
2	chr5:43043600-43064000	Weak transcription	NHEK	skin
3	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:43044800-43064000	Weak transcription	Right Ventricle	heart
5	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:43045000-43063800	Weak transcription	Adipose Nuclei	Adipose
8	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
10	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
12	chr5:43045600-43063600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:43046600-43063800	Weak transcription	Left Ventricle	heart
14	chr5:43048200-43064200	Weak transcription	Psoas Muscle	Psoas
15	chr5:43049200-43064000	Weak transcription	Fetal Stomach	stomach
16	chr5:43049800-43064400	Weak transcription	Fetal Lung	lung
17	chr5:43050800-43064000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:43051400-43064400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:43051600-43064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:43052600-43063800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:43053400-43064000	Weak transcription	Primary T cells from cord blood	blood
22	chr5:43053600-43064000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:43053600-43064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:43053800-43063600	Weak transcription	Dnd41	blood
25	chr5:43053800-43063800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:43053800-43063800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:43053800-43063800	Weak transcription	Placenta	Placenta
28	chr5:43053800-43063800	Weak transcription	Fetal Thymus	thymus
29	chr5:43053800-43063800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:43053800-43064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:43054000-43063800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:43054400-43063800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:43054400-43063800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:43059000-43063800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:43059000-43063800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:43059000-43063800	Weak transcription	Thymus	Thymus
37	chr5:43059000-43063800	Weak transcription	HSMMtube	muscle
38	chr5:43059200-43063600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:43059200-43063800	Weak transcription	Lung	lung
40	chr5:43059200-43063800	Weak transcription	Pancreas	Pancrea
41	chr5:43059200-43064600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:43061000-43064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:43061200-43064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:43061600-43063800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:43061800-43063800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:43061800-43064000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:43061800-43064000	Weak transcription	HMEC	breast
48	chr5:43061800-43064400	Weak transcription	Fetal Intestine Large	intestine
49	chr5:43062000-43063400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:43062000-43063600	Weak transcription	NHLF	lung

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