Variant report

Variant	rs4957175
Chromosome Location	chr5:41900448-41900449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41900408-41900458	PFSK-1	brain:	n/a
2	chr5:41900408-41900458	GM12878	blood:	n/a
3	chr5:41900408-41900458	T-47D	breast:	n/a
4	chr5:41900408-41900458	Jurkat	blood:	n/a
5	chr5:41900408-41900458	NB4	blood:	n/a
6	chr5:41900408-41900458	CMK	blood:	n/a
7	chr5:41900408-41900458	IMR90	lung:	fetal
8	chr5:41900408-41900458	HIPEpiC	eye:	n/a
9	chr5:41900408-41900458	HMEC	breast:	n/a
10	chr5:41900408-41900458	BJ	skin:	n/a
11	chr5:41900408-41900458	MCF10A-Er-Src	breast:	n/a
12	chr5:41900408-41900458	SK-N-SH	brain:	n/a
13	chr5:41900408-41900458	A549	lung:	n/a
14	chr5:41900408-41900458	PrEC	prostate:	n/a
15	chr5:41900408-41900458	HRE	kidney:	n/a
16	chr5:41900408-41900458	Caco-2	colon:	n/a
17	chr5:41900408-41900458	SK-N-SH_RA	brain:	n/a
18	chr5:41900408-41900458	GM12892	blood:	n/a
19	chr5:41900408-41900458	ECC-1	luminal epithelium:	n/a
20	chr5:41900408-41900458	HepG2	liver:	n/a
21	chr5:41900408-41900458	PANC-1	pancreas:	n/a
22	chr5:41900408-41900458	HRPEpiC	eye:	n/a
23	chr5:41900408-41900458	NHDF-neo	bronchial:	n/a
24	chr5:41900408-41900458	LNCaP	prostate:	n/a
25	chr5:41900408-41900458	AG10803	skin:	n/a
26	chr5:41900408-41900458	RPTEC	kidney:	n/a
27	chr5:41900408-41900458	HUVEC	blood vessel:	n/a
28	chr5:41900408-41900458	ovcar-3	ovarian:	n/a
29	chr5:41900408-41900458	HCPEpiC	choroid plexus:	n/a
30	chr5:41900408-41900458	MCF-7	breast:	n/a
31	chr5:41900408-41900458	AG09319	gingival:	n/a
32	chr5:41900408-41900458	GM19239	blood:	n/a
33	chr5:41900408-41900458	SK-N-MC	brain:	n/a
34	chr5:41900408-41900458	SAEC	small airway:	n/a
35	chr5:41900408-41900458	GM12891	blood:	n/a
36	chr5:41900408-41900458	U87	brain:	n/a
37	chr5:41900408-41900458	GM06990	blood:	n/a
38	chr5:41900408-41900458	HNPCEpiC	eye:	n/a
39	chr5:41900408-41900458	HCT-116	colon:	n/a
40	chr5:41900408-41900458	HL-60	blood:	n/a
41	chr5:41900408-41900458	Hela-S3	cervix:	n/a
42	chr5:41900408-41900458	HEK293	kidney:	embryo
43	chr5:41900408-41900458	HCM	heart:	n/a
44	chr5:41900408-41900458	NH-A	brain:	n/a
45	chr5:41900408-41900458	SKMC	muscle:	n/a
46	chr5:41900408-41900458	ProgFib	skin:	n/a
47	chr5:41900408-41900458	HRCEpiC	kidney:	n/a
48	chr5:41900408-41900458	Hepatocyte	liver:	n/a
49	chr5:41900408-41900458	NHBE	bronchial:	n/a
50	chr5:41900408-41900458	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:

No data

Variant related genes	Relation type
C5orf51	CpG island
ENSG00000083720	Chromatin interaction
ENSG00000248668	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10051322	1.00[ASN][1000 genomes]
rs10059424	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069638	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1006996	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10070201	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1035486	0.91[AMR][1000 genomes]
rs10472357	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10941557	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11740524	0.93[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11744516	0.81[ASN][1000 genomes]
rs11744623	0.93[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1175227	1.00[ASN][1000 genomes]
rs13357951	1.00[ASN][1000 genomes]
rs13360001	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1355089	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1494392	0.88[AMR][1000 genomes]
rs1508816	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533014	0.93[ASN][1000 genomes]
rs1567323	0.81[ASN][1000 genomes]
rs1582539	0.91[AMR][1000 genomes]
rs16871793	0.91[AMR][1000 genomes]
rs16871799	0.91[AMR][1000 genomes]
rs16871844	0.91[AMR][1000 genomes]
rs16871938	0.91[AMR][1000 genomes]
rs16871940	0.91[AMR][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs17739462	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17847285	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1876654	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2113053	1.00[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231917	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2329815	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs277406	1.00[ASN][1000 genomes]
rs277407	1.00[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs277416	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34226693	1.00[AFR][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs35154057	0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs3863161	1.00[AFR][1000 genomes]
rs3863162	1.00[AFR][1000 genomes]
rs3863163	1.00[AFR][1000 genomes]
rs3863164	1.00[AFR][1000 genomes]
rs4050986	0.93[ASN][1000 genomes]
rs4245982	0.83[AMR][1000 genomes]
rs4289604	1.00[ASN][1000 genomes]
rs4324728	0.86[ASN][1000 genomes]
rs4358568	1.00[AFR][1000 genomes]
rs4957170	0.91[AMR][1000 genomes]
rs4957171	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957172	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4957173	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957176	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957177	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957178	1.00[ASN][1000 genomes]
rs4957180	1.00[ASN][1000 genomes]
rs4957409	0.91[AMR][1000 genomes]
rs4957418	0.91[AMR][1000 genomes]
rs4957419	0.91[AMR][1000 genomes]
rs4957421	0.91[AMR][1000 genomes]
rs4957422	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957423	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957424	0.93[ASN][1000 genomes]
rs4957425	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4957428	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957429	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957430	0.93[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957433	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957434	1.00[JPT][hapmap]
rs4957435	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957438	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957439	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs6451582	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs676067	1.00[ASN][1000 genomes]
rs6869822	0.83[AMR][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746983	1.00[ASN][1000 genomes]
rs72746996	1.00[ASN][1000 genomes]
rs7712911	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7728482	1.00[JPT][hapmap];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	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
2	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
3	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
4	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
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41899600-41903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:41900000-41903800	Weak transcription	Gastric	stomach
3	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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