Variant report

Variant	rs13170959
Chromosome Location	chr5:43035611-43035612
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43035484..43037039-chr5:43065046..43066591,2	MCF-7	breast:
2	chr5:43034822..43036954-chr5:43065370..43067961,2	K562	blood:
3	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:
4	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
5	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
6	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:
7	chr5:43035327..43037045-chr5:43062681..43064782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251131	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1084520	0.89[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	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160133	1.00[ASN][1000 genomes]
rs13167375	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13167991	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170322	1.00[ASN][1000 genomes]
rs13171192	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13174226	1.00[ASN][1000 genomes]
rs13175754	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	1.00[ASN][1000 genomes]
rs13180496	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186091	1.00[ASN][1000 genomes]
rs2085100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34157680	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34215864	1.00[ASN][1000 genomes]
rs34345245	1.00[ASN][1000 genomes]
rs34517361	1.00[ASN][1000 genomes]
rs34735159	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810824	1.00[ASN][1000 genomes]
rs34967469	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030460	1.00[ASN][1000 genomes]
rs35197809	1.00[ASN][1000 genomes]
rs35322710	1.00[ASN][1000 genomes]
rs35334781	1.00[ASN][1000 genomes]
rs35484387	1.00[ASN][1000 genomes]
rs35594379	1.00[ASN][1000 genomes]
rs35756781	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35764948	1.00[ASN][1000 genomes]
rs36048737	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs503965	0.82[EUR][1000 genomes]
rs505573	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614386	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632730	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627567	1.00[ASN][1000 genomes]
rs71627568	0.84[EUR][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	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	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	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
10	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
rs13170959	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020800-43037400	Weak transcription	HSMM	muscle
2	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
3	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:43034000-43037000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:43034200-43037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:43034400-43035800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:43034400-43037000	Enhancers	Primary T cells from cord blood	blood
10	chr5:43034400-43037400	Enhancers	Dnd41	blood
11	chr5:43034600-43035800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:43034600-43036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:43034600-43036800	Weak transcription	Placenta	Placenta
14	chr5:43034600-43037000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43034600-43037200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:43034600-43037200	Weak transcription	Pancreas	Pancrea
17	chr5:43034600-43037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:43034600-43037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:43034800-43037000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:43034800-43037000	Weak transcription	NHDF-Ad	bronchial
21	chr5:43034800-43037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:43035000-43035800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:43035000-43037000	Weak transcription	Right Atrium	heart
24	chr5:43035000-43037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:43035000-43038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:43035200-43036400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:43035200-43036400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:43035200-43037200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:43035200-43037600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:43035200-43039600	Weak transcription	Hela-S3	cervix
31	chr5:43035400-43035800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:43035400-43035800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:43035400-43036200	Weak transcription	Fetal Thymus	thymus
34	chr5:43035400-43036200	Enhancers	NH-A	brain
35	chr5:43035400-43036400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:43035400-43036400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:43035400-43036400	Weak transcription	GM12878-XiMat	blood
38	chr5:43035400-43036600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:43035400-43036600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:43035400-43036800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:43035400-43036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:43035400-43036800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:43035400-43036800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:43035400-43036800	Enhancers	HUVEC	blood vessel
45	chr5:43035400-43037000	Weak transcription	NHEK	skin
46	chr5:43035400-43037200	Weak transcription	Thymus	Thymus
47	chr5:43035400-43037200	Weak transcription	NHLF	lung
48	chr5:43035400-43037400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:43035400-43038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:43035600-43036000	Weak transcription	Primary B cells from peripheral blood	blood

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