Variant report

Variant	rs632730
Chromosome Location	chr5:43046912-43046913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:43046571-43046945	GM12878	blood:	n/a	chr5:43046723-43046738
2	MYC	chr5:43046644-43046989	NB4	blood:	n/a	chr5:43046812-43046828 chr5:43046819-43046829
3	MAX	chr5:43046635-43047005	NB4	blood:	n/a	chr5:43046812-43046828 chr5:43046819-43046829
4	POLR2A	chr5:43046709-43046921	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:43046721-43047018	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr5:43046632-43046969	K562	blood:	n/a	chr5:43046812-43046828 chr5:43046819-43046829

No.	Distal block	Cell Line	Cell type
1	chr5:43045206..43050609-chr5:43062079..43064977,5	K562	blood:
2	chr5:43045693..43047655-chr5:43065213..43067765,2	K562	blood:
3	chr5:43006809..43009457-chr5:43045449..43048396,2	K562	blood:
4	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
5	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
6	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:

Variant related genes	Relation type
ANXA2R	TF binding region
ENSG00000271788	Chromatin interaction
ENSG00000272144	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1001717	1.00[CEU][hapmap]
rs10045847	1.00[CHB][hapmap]
rs10045863	1.00[CHB][hapmap]
rs10067153	1.00[CHB][hapmap]
rs10072083	1.00[CHB][hapmap]
rs1084520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550288	1.00[ASN][1000 genomes]
rs13156403	1.00[ASN][1000 genomes]
rs13156729	1.00[ASN][1000 genomes]
rs13158147	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160133	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13163892	1.00[CEU][hapmap]
rs13164183	1.00[CEU][hapmap]
rs13167375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167991	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169195	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13170322	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170959	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171192	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171253	0.92[CEU][hapmap]
rs13174226	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs13175754	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13186549	1.00[CEU][hapmap]
rs16873177	0.92[CEU][hapmap]
rs17242731	1.00[CEU][hapmap]
rs17242995	1.00[CEU][hapmap]
rs17243023	0.92[CEU][hapmap]
rs17243086	0.92[CEU][hapmap]
rs17243165	0.82[CEU][hapmap]
rs17243515	1.00[CEU][hapmap]
rs17302596	0.92[CEU][hapmap]
rs17302931	1.00[CEU][hapmap]
rs17303482	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2085100	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34157680	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34215864	1.00[ASN][1000 genomes]
rs34345245	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517361	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735159	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810824	1.00[ASN][1000 genomes]
rs34967469	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030460	1.00[ASN][1000 genomes]
rs35197809	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322710	1.00[ASN][1000 genomes]
rs35334781	1.00[ASN][1000 genomes]
rs35397154	1.00[CEU][hapmap]
rs35484387	1.00[ASN][1000 genomes]
rs35594379	1.00[ASN][1000 genomes]
rs35756781	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35764948	1.00[ASN][1000 genomes]
rs36048737	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs3752831	1.00[CEU][hapmap]
rs3752832	1.00[CEU][hapmap]
rs3797306	0.92[CEU][hapmap]
rs3797307	0.92[CEU][hapmap]
rs3797308	0.92[CEU][hapmap]
rs3797309	0.92[CEU][hapmap]
rs503965	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs505573	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863953	1.00[CHB][hapmap]
rs71627567	1.00[ASN][1000 genomes]
rs71627568	0.89[EUR][1000 genomes]
rs878234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]

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	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs632730	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43043600-43050600	Weak transcription	GM12878-XiMat	blood
2	chr5:43043600-43052600	Weak transcription	A549	lung
3	chr5:43043600-43058200	Weak transcription	Gastric	stomach
4	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
5	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
7	chr5:43043600-43064000	Weak transcription	NHEK	skin
8	chr5:43043800-43050600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:43043800-43054400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:43043800-43057400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:43043800-43058000	Weak transcription	HepG2	liver
12	chr5:43043800-43061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:43044600-43052800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:43044800-43047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:43044800-43047600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:43044800-43049000	Weak transcription	HSMM	muscle
18	chr5:43044800-43050600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:43044800-43051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:43044800-43052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:43044800-43052600	Weak transcription	Placenta	Placenta
22	chr5:43044800-43058200	Weak transcription	Lung	lung
23	chr5:43044800-43059400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:43044800-43064000	Weak transcription	Right Ventricle	heart
25	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
27	chr5:43045000-43048200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:43045000-43052400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:43045000-43061400	Weak transcription	NHLF	lung
30	chr5:43045000-43063800	Weak transcription	Adipose Nuclei	Adipose
31	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
33	chr5:43045200-43048200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:43045200-43049800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43045200-43053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:43045200-43053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:43045400-43047200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:43045400-43047600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:43045400-43047600	Weak transcription	Osteobl	bone
40	chr5:43045400-43048800	Weak transcription	HUVEC	blood vessel
41	chr5:43045400-43051200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:43045400-43053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:43045400-43058600	Weak transcription	Pancreas	Pancrea
44	chr5:43045400-43061400	Weak transcription	Hela-S3	cervix
45	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
47	chr5:43045600-43048000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:43045600-43049000	Weak transcription	NH-A	brain
49	chr5:43045600-43051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:43045600-43058800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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