Variant report

Variant	rs540174256
Chromosome Location	chr1:153401531-153401532
allele	C/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	ZNF143	chr1:153401404-153401599	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:153401420-153401570	GM12873	blood:	n/a	chr1:153401483-153401496
3	CTCF	chr1:153401400-153401550	BE2_C	brain:	n/a	chr1:153401483-153401496
4	CTCF	chr1:153401440-153401590	HMEC	breast:	n/a	chr1:153401483-153401496
5	CTCF	chr1:153401400-153401550	WERI-Rb-1	eye:	n/a	chr1:153401483-153401496
6	CTCF	chr1:153401440-153401590	SAEC	small airway:	n/a	chr1:153401483-153401496
7	CTCF	chr1:153401388-153401596	H1-hESC	embryonic stem cell:	n/a	chr1:153401483-153401496
8	CTCF	chr1:153401400-153401550	GM12873	blood:	n/a	chr1:153401483-153401496
9	CTCF	chr1:153401430-153401561	Hela-S3	cervix:	n/a	chr1:153401483-153401496
10	CTCF	chr1:153401408-153401544	Fibrobl	skin:	n/a	chr1:153401483-153401496
11	CTCF	chr1:153401341-153401628	K562	blood:	n/a	chr1:153401483-153401496
12	CTCF	chr1:153401400-153401550	Hela-S3	cervix:	n/a	chr1:153401483-153401496
13	CTCF	chr1:153401460-153401610	HepG2	liver:	n/a	chr1:153401483-153401496
14	CTCF	chr1:153401500-153401650	NHEK	skin:	n/a	n/a
15	RAD21	chr1:153401369-153401650	H1-hESC	embryonic stem cell:	n/a	chr1:153401486-153401496 chr1:153401486-153401498 chr1:153401481-153401500
16	CTCF	chr1:153401440-153401590	SK-N-SH_RA	brain:	n/a	chr1:153401483-153401496
17	CTCF	chr1:153401411-153401551	MCF-7	breast:	n/a	chr1:153401483-153401496
18	CTCF	chr1:153401419-153401548	K562	blood:	n/a	chr1:153401483-153401496
19	CTCF	chr1:153401310-153401684	H1-hESC	embryonic stem cell:	n/a	chr1:153401483-153401496
20	CTCF	chr1:153401426-153401546	MCF-7	breast:	n/a	chr1:153401483-153401496
21	CTCF	chr1:153401420-153401570	BE2_C	brain:	n/a	chr1:153401483-153401496
22	CTCF	chr1:153401480-153401630	NHDF-neo	bronchial:	n/a	chr1:153401483-153401496
23	CTCF	chr1:153401439-153401539	MCF-7	breast:	n/a	chr1:153401483-153401496
24	RAD21	chr1:153401284-153401690	H1-hESC	embryonic stem cell:	n/a	chr1:153401486-153401496 chr1:153401486-153401498 chr1:153401481-153401500
25	CTCF	chr1:153401305-153401611	H1-hESC	embryonic stem cell:	n/a	chr1:153401483-153401496
26	CTCF	chr1:153401460-153401610	HMF	breast:	n/a	chr1:153401483-153401496
27	CTCF	chr1:153401438-153401553	HepG2	liver:	n/a	chr1:153401483-153401496
28	RAD21	chr1:153401289-153401628	H1-hESC	embryonic stem cell:	n/a	chr1:153401486-153401496 chr1:153401486-153401498 chr1:153401481-153401500
29	CTCF	chr1:153401420-153401570	GM12871	blood:	n/a	chr1:153401483-153401496
30	CTCF	chr1:153401380-153401686	K562	blood:	n/a	chr1:153401483-153401496
31	CTCF	chr1:153401420-153401570	WERI-Rb-1	eye:	n/a	chr1:153401483-153401496
32	CTCF	chr1:153401420-153401570	K562	blood:	n/a	chr1:153401483-153401496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153365407..153367710-chr1:153401211..153403404,2	MCF-7	breast:
2	chr1:153401442..153403093-chr1:153408398..153410070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203781	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3355423	chr1:153401528-153405726	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153401400-153403400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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