Variant report

Variant	rs507801
Chromosome Location	chr15:59053345-59053346
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:59053333-59053401	Fibrobl	skin:	n/a	n/a
2	CTCF	chr15:59053280-59053430	GM12873	blood:	n/a	n/a
3	CTCF	chr15:59053217-59053517	GM12878	blood:	n/a	n/a
4	CTCF	chr15:59053300-59053450	HMF	breast:	n/a	n/a
5	CTCF	chr15:59053310-59053440	GM12892	blood:	n/a	n/a
6	CTCF	chr15:59053260-59053410	HPF	lung:	n/a	n/a
7	RAD21	chr15:59053230-59053417	K562	blood:	n/a	n/a
8	CTCF	chr15:59053310-59053457	NHEK	skin:	n/a	n/a
9	CTCF	chr15:59053240-59053390	HPAF	blood vessel:	n/a	n/a
10	RAD21	chr15:59053217-59053458	HepG2	liver:	n/a	n/a
11	CTCF	chr15:59053334-59053422	GM10266	blood:	n/a	n/a
12	RAD21	chr15:59053126-59053564	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:59053225-59053473	K562	blood:	n/a	n/a
14	CTCF	chr15:59053320-59053470	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr15:59053220-59053370	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr15:59053320-59053470	WERI-Rb-1	eye:	n/a	n/a
17	RAD21	chr15:59053152-59053518	HepG2	liver:	n/a	n/a
18	RAD21	chr15:59053029-59053621	HCT-116	colon:	n/a	n/a
19	CTCF	chr15:59053240-59053390	GM12873	blood:	n/a	n/a
20	CTCF	chr15:59053328-59053437	GM19239	blood:	n/a	n/a
21	CTCF	chr15:59053260-59053410	GM12872	blood:	n/a	n/a
22	CTCF	chr15:59053260-59053410	AG04449	skin:	n/a	n/a
23	CTCF	chr15:59053280-59053430	K562	blood:	n/a	n/a
24	CTCF	chr15:59053138-59053627	HCT-116	colon:	n/a	n/a
25	CTCF	chr15:59053290-59053465	GM19240	blood:	n/a	n/a
26	CTCF	chr15:59053200-59053350	HVMF	connective:	n/a	n/a
27	CTCF	chr15:59053306-59053455	MCF-7	breast:	n/a	n/a
28	CTCF	chr15:59053316-59053437	ProgFib	skin:	n/a	n/a
29	RAD21	chr15:59053214-59053424	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr15:59053240-59053470	GM12872	blood:	n/a	n/a
31	CTCF	chr15:59053303-59053417	K562	blood:	n/a	n/a
32	CTCF	chr15:59053311-59053428	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr15:59053290-59053386	Lung_OC	lung:	n/a	n/a
34	CTCF	chr15:59053280-59053430	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr15:59053307-59053462	GM19238	blood:	n/a	n/a
36	RAD21	chr15:59053222-59053431	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr15:59053306-59053428	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr15:59053280-59053430	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr15:59053260-59053410	GM06990	blood:	n/a	n/a
40	CTCF	chr15:59053297-59053441	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr15:59053213-59053429	GM12878	blood:	n/a	n/a
42	SMC3	chr15:59053264-59053355	GM12878	blood:	n/a	n/a
43	CTCF	chr15:59053292-59053420	Medullo	brain:	n/a	n/a
44	RAD21	chr15:59053276-59053511	H1-hESC	embryonic stem cell:	n/a	n/a
45	SMC3	chr15:59053286-59053411	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:59053240-59053390	AG04449	skin:	n/a	n/a
47	CTCF	chr15:59053326-59053446	MCF-7	breast:	n/a	n/a
48	CTCF	chr15:59053318-59053431	GM12878	blood:	n/a	n/a
49	CTCF	chr15:59053235-59053435	HepG2	liver:	n/a	n/a
50	RAD21	chr15:59053199-59053431	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:59042046..59047020-chr15:59050998..59056418,7	K562	blood:
2	chr15:59051351..59055079-chr15:59061641..59063693,4	K562	blood:
3	chr15:59052627..59055079-chr15:59061662..59063562,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200318	TF binding region
ENSG00000259173	TF binding region
ENSG00000137845	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10152558	1.00[JPT][hapmap]
rs11854073	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1427281	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17269397	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2250583	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555356	1.00[JPT][hapmap]
rs28864995	1.00[JPT][hapmap]
rs347115	0.83[CHB][hapmap]
rs347117	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs383902	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs442495	1.00[JPT][hapmap]
rs474875	0.83[CHB][hapmap]
rs4774310	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs4775087	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4775094	0.83[CHB][hapmap]
rs572107	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs585192	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593742	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs596379	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs602602	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs605928	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610877	0.83[CHB][hapmap]
rs640704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494035	0.83[EUR][1000 genomes]
rs6494036	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6494037	0.83[EUR][1000 genomes]
rs650366	0.81[ASN][1000 genomes]
rs653765	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs714696	1.00[JPT][hapmap]
rs7161889	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7171818	1.00[JPT][hapmap]
rs7183336	1.00[JPT][hapmap]
rs972801	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas

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