Variant report

Variant	rs372917329
Chromosome Location	chr1:153285273-153285274
allele	G/T
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	chr1:153285180-153285330	WERI-Rb-1	eye:	n/a	chr1:153285232-153285245
2	RAD21	chr1:153285180-153285333	K562	blood:	n/a	chr1:153285233-153285246
3	CTCF	chr1:153285180-153285330	Hela-S3	cervix:	n/a	chr1:153285232-153285245
4	RAD21	chr1:153285117-153285396	H1-hESC	embryonic stem cell:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
5	CTCF	chr1:153285105-153285522	K562	blood:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
6	CTCF	chr1:153285057-153285514	MCF-7	breast:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
7	CTCF	chr1:153285200-153285350	MCF-7	breast:	n/a	chr1:153285232-153285245
8	RAD21	chr1:153285083-153285560	HCT-116	colon:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
9	CTCF	chr1:153285191-153285297	GM10248	blood:	n/a	chr1:153285232-153285245
10	CTCF	chr1:153285188-153285332	A549	lung:	n/a	chr1:153285232-153285245
11	CTCF	chr1:153285176-153285378	GM12892	blood:	n/a	chr1:153285232-153285245
12	CTCF	chr1:153285220-153285370	HCT-116	colon:	n/a	chr1:153285232-153285245
13	CTCF	chr1:153285191-153285326	GM10266	blood:	n/a	chr1:153285232-153285245
14	CTCF	chr1:153285200-153285350	GM12873	blood:	n/a	chr1:153285232-153285245
15	CTCF	chr1:153285162-153285365	GM12891	blood:	n/a	chr1:153285232-153285245
16	CTCF	chr1:153285240-153285390	SAEC	small airway:	n/a	n/a
17	CTCF	chr1:153285200-153285350	GM12871	blood:	n/a	chr1:153285232-153285245
18	RAD21	chr1:153284995-153285512	MCF-7	breast:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
19	CTCF	chr1:153285185-153285308	GM19239	blood:	n/a	chr1:153285232-153285245
20	CTCF	chr1:153285114-153285453	GM12878	blood:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
21	CTCF	chr1:153285220-153285370	GM12878	blood:	n/a	chr1:153285232-153285245
22	CTCF	chr1:153285220-153285370	GM12872	blood:	n/a	chr1:153285232-153285245
23	RAD21	chr1:153285026-153285585	HCT-116	colon:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
24	CTCF	chr1:153285220-153285370	K562	blood:	n/a	chr1:153285232-153285245
25	CTCF	chr1:153285209-153285340	GM13976	blood:	n/a	chr1:153285232-153285245
26	CTCF	chr1:153285210-153285321	Hela-S3	cervix:	n/a	chr1:153285232-153285245
27	RAD21	chr1:153285111-153285394	H1-hESC	embryonic stem cell:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
28	CTCF	chr1:153285160-153285310	HEK293	kidney:	n/a	chr1:153285232-153285245
29	CTCF	chr1:153285240-153285390	HEEpiC	esophagus:	n/a	n/a
30	RAD21	chr1:153285162-153285372	Hela-S3	cervix:	n/a	chr1:153285233-153285246
31	CTCF	chr1:153285200-153285350	HMEC	breast:	n/a	chr1:153285232-153285245
32	CTCF	chr1:153285130-153285376	H1-hESC	embryonic stem cell:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
33	CTCF	chr1:153285113-153285438	K562	blood:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
34	CTCF	chr1:153285200-153285350	WERI-Rb-1	eye:	n/a	chr1:153285232-153285245
35	CTCF	chr1:153285240-153285390	GM12871	blood:	n/a	n/a
36	CTCF	chr1:153285129-153285378	MCF-7	breast:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
37	RAD21	chr1:153285159-153285375	K562	blood:	n/a	chr1:153285233-153285246
38	CTCF	chr1:153285112-153285317	K562	blood:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
39	CTCF	chr1:153285200-153285350	GM12866	blood:	n/a	chr1:153285232-153285245
40	RAD21	chr1:153285138-153285394	H1-hESC	embryonic stem cell:	n/a	chr1:153285374-153285386 chr1:153285233-153285246
41	CTCF	chr1:153285151-153285530	MCF-7	breast:	n/a	chr1:153285232-153285245
42	CTCF	chr1:153285161-153285372	NHEK	skin:	n/a	chr1:153285232-153285245
43	CTCF	chr1:153285140-153285290	K562	blood:	n/a	chr1:153285143-153285151 chr1:153285232-153285245
44	CTCF	chr1:153285220-153285298	Gliobla	brain:	n/a	chr1:153285232-153285245
45	CTCF	chr1:153285149-153285352	MCF-7	breast:	n/a	chr1:153285232-153285245
46	CTCF	chr1:153285177-153285346	GM12878	blood:	n/a	chr1:153285232-153285245
47	CTCF	chr1:153285220-153285370	HepG2	liver:	n/a	chr1:153285232-153285245
48	CTCF	chr1:153285153-153285359	MCF-7	breast:	n/a	chr1:153285232-153285245
49	CTCF	chr1:153285154-153285387	GM19238	blood:	n/a	chr1:153285232-153285245
50	CTCF	chr1:153285151-153285376	K562	blood:	n/a	chr1:153285232-153285245

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153284760..153285743-chr1:153325777..153326381,2	MCF-7	breast:
2	chr1:153274688..153277090-chr1:153283483..153285851,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGLYRP4-1	chr1:153284290-153303044	predAs_engstrom06_CR598625_1

Variant related genes	Relation type
PGLYRP3	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	nsv999024	chr1:153255005-153325685	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3421067	chr1:153285224-153321348	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153285000-153285400	Enhancers	Esophagus	oesophagus
2	chr1:153285000-153285400	Enhancers	HMEC	breast
3	chr1:153285000-153285800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:153285000-153286000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:153285200-153285400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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