Variant report

Variant	rs514567
Chromosome Location	chr5:43107547-43107548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43105944..43107931-chr5:43120220..43122673,3	K562	blood:
2	chr5:43103618..43114075-chr5:43115760..43123048,23	MCF-7	breast:
3	chr5:42912603..42915308-chr5:43106066..43109137,3	K562	blood:
4	chr5:43105107..43107712-chr5:43109708..43111277,2	K562	blood:
5	chr5:43105944..43108297-chr5:43109238..43111708,2	K562	blood:
6	chr5:43107258..43109995-chr5:43119020..43121426,3	MCF-7	breast:
7	chr5:43065471..43068340-chr5:43104546..43107830,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13158202	0.96[EUR][1000 genomes]
rs13162715	0.96[EUR][1000 genomes]
rs13173064	0.85[LWK][hapmap]
rs1670802	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2444780	0.82[AFR][1000 genomes]
rs2444781	1.00[YRI][hapmap]
rs2444782	0.85[AFR][1000 genomes]
rs316405	0.95[LWK][hapmap]
rs316411	0.95[LWK][hapmap]
rs496570	0.92[AFR][1000 genomes]
rs497982	0.87[AFR][1000 genomes]
rs506244	0.83[AFR][1000 genomes]
rs524985	0.92[AFR][1000 genomes]
rs535266	0.96[EUR][1000 genomes]
rs546194	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7709181	0.89[LWK][hapmap]
rs7719222	0.85[AFR][1000 genomes]
rs782973	0.84[LWK][hapmap]
rs782980	0.87[AFR][1000 genomes]
rs782988	0.93[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	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
10	nsv981009	chr5:43101558-43114874	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs514567	ZNF131	Cis_1M	lymphoblastoid	RTeQTL
rs514567	ZNF131	cis	Artery Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43106000-43110400	Weak transcription	Fetal Thymus	thymus
2	chr5:43106000-43120400	Weak transcription	Fetal Brain Female	brain
3	chr5:43106000-43120600	Weak transcription	Left Ventricle	heart
4	chr5:43106200-43108600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:43106200-43120400	Weak transcription	Fetal Stomach	stomach
6	chr5:43106400-43108800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:43106400-43109000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43106400-43109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43106400-43109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43106400-43109400	Weak transcription	Primary T cells from cord blood	blood
11	chr5:43106400-43109400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:43106400-43110200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43106400-43110800	Weak transcription	Thymus	Thymus
14	chr5:43106400-43116200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:43106600-43108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:43106600-43108800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:43106600-43109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:43106600-43109600	Weak transcription	Dnd41	blood
20	chr5:43106600-43109600	Weak transcription	GM12878-XiMat	blood
21	chr5:43106600-43110400	Weak transcription	Fetal Intestine Large	intestine
22	chr5:43106600-43110800	Weak transcription	HepG2	liver
23	chr5:43106600-43111200	Weak transcription	K562	blood
24	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:43106800-43108000	Weak transcription	NHLF	lung
26	chr5:43106800-43109000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:43106800-43109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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