Variant report

Variant	rs4957433
Chromosome Location	chr5:41891546-41891547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr5:41891374-41891796	MCF-7	breast:	n/a	n/a
2	KAP1	chr5:41891361-41891691	K562	blood:	n/a	n/a
3	BATF	chr5:41891384-41891753	GM12878	blood:	n/a	chr5:41891595-41891606
4	BHLHE40	chr5:41891429-41891738	GM12878	blood:	n/a	n/a
5	CREB1	chr5:41891443-41892069	GM12878	blood:	n/a	n/a
6	NFYB	chr5:41891297-41891601	GM12878	blood:	n/a	n/a
7	JUND	chr5:41891182-41891647	K562	blood:	n/a	n/a
8	EP300	chr5:41891471-41891707	GM12878	blood:	n/a	n/a
9	MYC	chr5:41891242-41891603	K562	blood:	n/a	n/a
10	BATF	chr5:41891434-41891732	GM12878	blood:	n/a	chr5:41891595-41891606
11	TBL1XR1	chr5:41891229-41891583	K562	blood:	n/a	n/a
12	RUNX3	chr5:41891157-41892148	GM12878	blood:	n/a	n/a
13	IRF4	chr5:41891311-41891827	GM12878	blood:	n/a	n/a
14	RUNX3	chr5:41891407-41891770	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41889147..41892040-chr5:41892330..41895312,4	K562	blood:
2	chr5:41885203..41888121-chr5:41889501..41892447,3	K562	blood:
3	chr5:41888696..41891636-chr5:41903248..41905861,3	MCF-7	breast:
4	chr5:41882384..41891851-chr5:41900562..41907560,15	K562	blood:
5	chr5:41890674..41893277-chr5:41894276..41896583,2	MCF-7	breast:
6	chr5:41890673..41892220-chr5:41904028..41905764,2	MCF-7	breast:
7	chr5:41869639..41871657-chr5:41890158..41893094,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240281	TF binding region
ENSG00000240281	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000248668	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10045473	1.00[ASN][1000 genomes]
rs10051322	1.00[ASN][1000 genomes]
rs10059424	1.00[ASN][1000 genomes]
rs10060170	1.00[ASN][1000 genomes]
rs10062703	1.00[ASN][1000 genomes]
rs10064298	1.00[ASN][1000 genomes]
rs10064380	1.00[ASN][1000 genomes]
rs10069638	1.00[ASN][1000 genomes]
rs1006996	1.00[ASN][1000 genomes]
rs10070201	1.00[ASN][1000 genomes]
rs10075064	0.93[ASN][1000 genomes]
rs10077481	1.00[ASN][1000 genomes]
rs1035486	0.94[AMR][1000 genomes]
rs10472357	1.00[ASN][1000 genomes]
rs10941557	0.93[ASN][1000 genomes]
rs1118104	1.00[ASN][1000 genomes]
rs11739257	0.93[ASN][1000 genomes]
rs11740524	0.93[ASN][1000 genomes]
rs11744279	0.93[ASN][1000 genomes]
rs11744516	0.81[ASN][1000 genomes]
rs11744623	0.93[ASN][1000 genomes]
rs11745373	0.93[ASN][1000 genomes]
rs11747921	0.93[ASN][1000 genomes]
rs1175227	1.00[ASN][1000 genomes]
rs13357951	1.00[ASN][1000 genomes]
rs13360001	0.93[ASN][1000 genomes]
rs1355089	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1494392	0.91[AMR][1000 genomes]
rs1508816	1.00[ASN][1000 genomes]
rs1533014	0.93[ASN][1000 genomes]
rs1567323	0.81[ASN][1000 genomes]
rs1582539	0.94[AMR][1000 genomes]
rs16871793	0.94[AMR][1000 genomes]
rs16871799	0.94[AMR][1000 genomes]
rs16871844	0.94[AMR][1000 genomes]
rs16871938	0.94[AMR][1000 genomes]
rs16871940	0.94[AMR][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs17739462	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17847285	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1876654	1.00[ASN][1000 genomes]
rs2113053	1.00[ASN][1000 genomes]
rs2231910	1.00[ASN][1000 genomes]
rs2231917	1.00[ASN][1000 genomes]
rs2329815	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs277406	1.00[ASN][1000 genomes]
rs277407	1.00[ASN][1000 genomes]
rs277414	1.00[ASN][1000 genomes]
rs277416	1.00[ASN][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	0.93[ASN][1000 genomes]
rs35154057	0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs3863161	0.81[AMR][1000 genomes]
rs3863162	0.81[AMR][1000 genomes]
rs3863163	0.81[AMR][1000 genomes]
rs4050986	0.93[ASN][1000 genomes]
rs4245982	0.86[AMR][1000 genomes]
rs4289604	1.00[ASN][1000 genomes]
rs4324728	0.86[ASN][1000 genomes]
rs4957170	0.94[AMR][1000 genomes]
rs4957171	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957172	0.94[AMR][1000 genomes]
rs4957173	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957174	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957175	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957176	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957177	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957178	1.00[ASN][1000 genomes]
rs4957180	1.00[ASN][1000 genomes]
rs4957407	0.94[AMR][1000 genomes]
rs4957409	0.94[AMR][1000 genomes]
rs4957418	0.94[AMR][1000 genomes]
rs4957419	0.94[AMR][1000 genomes]
rs4957421	0.94[AMR][1000 genomes]
rs4957422	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957423	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957424	0.93[ASN][1000 genomes]
rs4957425	0.94[AMR][1000 genomes]
rs4957428	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957429	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957430	0.93[ASN][1000 genomes]
rs4957431	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957432	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957435	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957436	1.00[ASN][1000 genomes]
rs4957437	1.00[ASN][1000 genomes]
rs4957438	1.00[ASN][1000 genomes]
rs4957439	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6451582	1.00[ASN][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs676067	1.00[ASN][1000 genomes]
rs6869822	0.86[AMR][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs72746983	1.00[ASN][1000 genomes]
rs72746996	1.00[ASN][1000 genomes]
rs7712911	0.93[ASN][1000 genomes]
rs7728482	1.00[ASN][1000 genomes]
rs7729014	0.93[ASN][1000 genomes]
rs7733096	0.93[ASN][1000 genomes]
rs9292825	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
5	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41889800-41891600	Enhancers	K562	blood
2	chr5:41891000-41891800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:41891200-41892000	Enhancers	Fetal Kidney	kidney
4	chr5:41891200-41892200	Enhancers	Stomach Mucosa	stomach
5	chr5:41891400-41891800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:41891400-41892000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:41891400-41892200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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