Variant report

Variant	rs511340
Chromosome Location	chr5:43120098-43120099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43120039-43120172	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:43120038-43120380	K562	blood:	n/a	chr5:43120198-43120209 chr5:43120196-43120209
3	HCFC1	chr5:43119222-43122816	Hela-S3	cervix:	n/a	n/a
4	E2F6	chr5:43120001-43120197	K562	blood:	n/a	n/a
5	POLR2A	chr5:43119820-43122380	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43119704..43122543-chr5:43311544..43313949,2	K562	blood:
3	chr5:43118701..43121317-chr5:43476205..43478903,2	MCF-7	breast:
4	chr5:43017490..43020535-chr5:43119535..43122363,3	MCF-7	breast:
5	chr5:43119639..43122584-chr5:43481498..43484654,4	K562	blood:
6	chr5:43119673..43121512-chr6:42896043..42898677,2	MCF-7	breast:
7	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
8	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
9	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
10	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
11	chr5:43119888..43121712-chr5:43555739..43557363,2	K562	blood:
12	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
13	chr5:43119575..43121406-chr5:43482478..43484102,2	MCF-7	breast:
14	chr5:43041491..43043698-chr5:43120008..43122438,3	MCF-7	breast:
15	chr5:42897117..42899621-chr5:43119844..43121464,2	K562	blood:
16	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
17	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
18	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
19	chr5:43006939..43009143-chr5:43119919..43122235,2	K562	blood:

No data

Variant related genes	Relation type
ZNF131	TF binding region
ENSG00000177721	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000137161	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000251163	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000251141	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10044382	0.84[ASN][1000 genomes]
rs10058350	0.86[ASN][1000 genomes]
rs10058374	0.86[ASN][1000 genomes]
rs10070751	0.84[ASN][1000 genomes]
rs10074873	0.82[ASN][1000 genomes]
rs10075647	0.82[ASN][1000 genomes]
rs10214190	0.82[ASN][1000 genomes]
rs10805667	0.81[ASN][1000 genomes]
rs13176429	0.86[ASN][1000 genomes]
rs13665	0.84[ASN][1000 genomes]
rs1532330	0.87[ASN][1000 genomes]
rs1532331	0.87[ASN][1000 genomes]
rs1618891	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1624415	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1628981	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1690994	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1690997	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2453308	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4498259	0.84[ASN][1000 genomes]
rs479996	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4866808	0.84[ASN][1000 genomes]
rs4866971	0.86[ASN][1000 genomes]
rs499436	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512040	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512921	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs521649	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs541143	0.86[ASN][1000 genomes]
rs544402	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs555276	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs557076	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs567884	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs574051	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57689195	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs579337	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs579363	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61004923	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61121229	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6414900	0.86[ASN][1000 genomes]
rs6451674	0.87[ASN][1000 genomes]
rs6451675	0.87[ASN][1000 genomes]
rs6862639	0.84[ASN][1000 genomes]
rs6864955	0.84[ASN][1000 genomes]
rs6870418	0.87[ASN][1000 genomes]
rs6876746	0.84[ASN][1000 genomes]
rs6884303	0.86[ASN][1000 genomes]
rs6892422	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7712046	0.86[ASN][1000 genomes]
rs7723426	0.83[ASN][1000 genomes]
rs7730004	0.82[ASN][1000 genomes]
rs782971	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs782972	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs782976	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs782977	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs782978	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs782984	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs782987	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs782989	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs782994	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs782996	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs903391	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
rs511340	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43106000-43120400	Weak transcription	Fetal Brain Female	brain
2	chr5:43106000-43120600	Weak transcription	Left Ventricle	heart
3	chr5:43106200-43120400	Weak transcription	Fetal Stomach	stomach
4	chr5:43106400-43120400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:43106600-43120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:43111400-43120200	Weak transcription	HepG2	liver
7	chr5:43111400-43120600	Weak transcription	Thymus	Thymus
8	chr5:43111600-43120600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43116800-43120800	Weak transcription	Psoas Muscle	Psoas
10	chr5:43117200-43120600	Weak transcription	HSMMtube	muscle
11	chr5:43117400-43121800	Weak transcription	Fetal Heart	heart
12	chr5:43118200-43120600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:43119800-43121000	Flanking Active TSS	K562	blood
14	chr5:43120000-43120200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:43120000-43120200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:43120000-43120200	Enhancers	GM12878-XiMat	blood
17	chr5:43120000-43120400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:43120000-43120400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:43120000-43120600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:43120000-43120600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:43120000-43120600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:43120000-43120600	Enhancers	Pancreas	Pancrea
23	chr5:43120000-43120600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:43120000-43120800	Flanking Active TSS	Hela-S3	cervix
25	chr5:43120000-43121000	Flanking Active TSS	Dnd41	blood
26	chr5:43120000-43122400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:43120000-43122400	Active TSS	NHEK	skin

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