Variant report

Variant	rs13356314
Chromosome Location	chr5:147237190-147237191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:147237170-147237425	A549	lung:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
2	RAD21	chr5:147237054-147237562	HepG2	liver:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
3	SMC3	chr5:147237110-147237508	GM12878	blood:	n/a	chr5:147237292-147237306
4	RAD21	chr5:147237183-147237419	HepG2	liver:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
5	CTCF	chr5:147237180-147237330	HFF-Myc	foreskin:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
6	RAD21	chr5:147237036-147237550	H1-hESC	embryonic stem cell:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
7	CTCF	chr5:147237114-147237364	A549	lung:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
8	CTCF	chr5:147237180-147237330	GM12871	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
9	CEBPB	chr5:147237141-147237375	A549	lung:	n/a	n/a
10	CTCF	chr5:147237136-147237369	H1-hESC	embryonic stem cell:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
11	NRF1	chr5:147236518-147237358	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:147237102-147238749	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr5:147237055-147237502	HepG2	liver:	n/a	chr5:147237343-147237352
14	CTCF	chr5:147237157-147237423	MCF-7	breast:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
15	RAD21	chr5:147237106-147237532	H1-hESC	embryonic stem cell:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
16	CTCF	chr5:147237148-147237441	H1-hESC	embryonic stem cell:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
17	CTCF	chr5:147237097-147237508	GM12878	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
18	CTCF	chr5:147237176-147237420	GM20000	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
19	SP4	chr5:147237096-147237672	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:147237157-147237440	Hela-S3	cervix:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
21	CTCF	chr5:147237172-147237410	HepG2	liver:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
22	CTCF	chr5:147237180-147237330	HFF	foreskin:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
23	CTCF	chr5:147237114-147237465	K562	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
24	CTCF	chr5:147237175-147237411	LNCaP	prostate:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
25	CTCF	chr5:147237175-147237405	MCF-7	breast:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
26	RAD21	chr5:147237177-147237437	GM12878	blood:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
27	CTCF	chr5:147237152-147237438	GM12878	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
28	CTCF	chr5:147237180-147237330	Hela-S3	cervix:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
29	CTCF	chr5:147237180-147237330	K562	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
30	CTCF	chr5:147237112-147237538	A549	lung:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
31	CTCF	chr5:147237087-147237469	ECC-1	luminal epithelium:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
32	FOXA1	chr5:147237141-147237473	T-47D	breast:	n/a	n/a
33	CTCF	chr5:147237160-147237310	HAc	cerebellar:	n/a	chr5:147237290-147237308 chr5:147237291-147237307
34	RAD21	chr5:147237136-147237516	SK-N-SH_RA	brain:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
35	BRCA1	chr5:147237189-147237534	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:147237170-147237414	K562	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
37	ELF1	chr5:147237180-147237425	HepG2	liver:	n/a	chr5:147237280-147237291 chr5:147237280-147237291
38	BRCA1	chr5:147236963-147237464	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:147237164-147237422	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr5:147237137-147237449	K562	blood:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
41	POLR2A	chr5:147230386-147238906	H1-hESC	embryonic stem cell:	n/a	n/a
42	GATA3	chr5:147237153-147237441	T-47D	breast:	n/a	n/a
43	CTCF	chr5:147237140-147237290	HFF-Myc	foreskin:	n/a	n/a
44	RAD21	chr5:147237036-147237571	A549	lung:	n/a	chr5:147237291-147237310 chr5:147237295-147237304
45	TEAD4	chr5:147237148-147237548	H1-hESC	embryonic stem cell:	n/a	chr5:147237343-147237352
46	CTCF	chr5:147237186-147237401	Fibrobl	skin:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
47	CTCF	chr5:147237161-147237412	Lung_OC	lung:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
48	CTCF	chr5:147237169-147237489	K562	blood:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307
49	CEBPB	chr5:147237138-147237434	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:147237163-147237391	LNCaP	prostate:	n/a	chr5:147237290-147237308 chr5:147237292-147237313 chr5:147237291-147237307

No.	Distal block	Cell Line	Cell type
1	chr5:147236987..147237740-chr5:147312978..147314003,3	MCF-7	breast:
2	chr5:147236815..147237790-chr5:147266317..147266844,2	K562	blood:
3	chr5:147236854..147237741-chr5:147314334..147315282,8	MCF-7	breast:
4	chr5:147237167..147237749-chr5:148414576..148415153,2	K562	blood:
5	chr5:147007364..147008316-chr5:147236786..147237763,3	MCF-7	breast:
6	chr5:147236958..147237672-chr5:147259068..147259579,2	MCF-7	breast:
7	chr5:147236518..147237633-chr5:147314355..147315282,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249518	TF binding region
ENSG00000251320	Chromatin interaction
ENSG00000248362	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10075900	1.00[AMR][1000 genomes]
rs10476889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11505126	1.00[AMR][1000 genomes]
rs28570984	0.82[AFR][1000 genomes]
rs73261368	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261392	0.81[AFR][1000 genomes];1.00[AMR][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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147234200-147239600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
3	chr5:147234400-147239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:147234600-147237800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:147235000-147237400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:147235000-147239000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147236800-147237200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:147236800-147239800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:147237000-147238400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:147237000-147243000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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