Variant report

Variant	rs587598971
Chromosome Location	chr1:149814741-149814742
allele	C/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	ZBTB33	chr1:149811579-149815152	GM12878	blood:	n/a	n/a
2	BCL11A	chr1:149814592-149814976	GM12878	blood:	n/a	n/a
3	REST	chr1:149813979-149814977	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:149810641-149815102	U87	brain:	n/a	n/a
5	POLR2A	chr1:149808894-149816026	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:149811229-149814998	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:149800421-149817942	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:149810562-149815035	GM12891	blood:	n/a	n/a
9	REST	chr1:149813701-149815059	PFSK-1	brain:	n/a	n/a
10	TEAD4	chr1:149813753-149814973	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:149807697-149816065	Hela-S3	cervix:	n/a	n/a
12	BATF	chr1:149814622-149814844	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:149811240-149815032	HepG2	liver:	n/a	n/a
14	IRF4	chr1:149812016-149815054	GM12878	blood:	n/a	chr1:149813278-149813292
15	POU2F2	chr1:149810659-149815111	GM12891	blood:	n/a	chr1:149814438-149814448 chr1:149814438-149814448 chr1:149814439-149814450 chr1:149814436-149814451 chr1:149814439-149814449 chr1:149814433-149814455
16	MYC	chr1:149813988-149814985	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:149810882-149815663	U87	brain:	n/a	n/a
18	ZBTB33	chr1:149811969-149815027	HepG2	liver:	n/a	n/a
19	TAF1	chr1:149812098-149814885	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:149808691-149815499	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:149809471-149815854	PANC-1	pancreas:	n/a	n/a
22	TAF1	chr1:149812060-149815012	Hela-S3	cervix:	n/a	n/a
23	PAX5	chr1:149811280-149815051	GM12878	blood:	n/a	chr1:149814982-149814992 chr1:149813455-149813464
24	USF1	chr1:149813801-149814836	HepG2	liver:	n/a	n/a
25	TCF12	chr1:149813841-149815007	HepG2	liver:	n/a	n/a
26	GATA2	chr1:149810492-149815139	K562	blood:	n/a	chr1:149810891-149810899 chr1:149813300-149813307
27	TRIM28	chr1:149813654-149814944	K562	blood:	n/a	n/a
28	POLR2A	chr1:149810739-149815077	SK-N-SH	brain:	n/a	n/a
29	GABPA	chr1:149813838-149815040	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:149810662-149815719	SK-N-MC	brain:	n/a	n/a
31	SIN3AK20	chr1:149812060-149815040	HepG2	liver:	n/a	n/a
32	MYBL2	chr1:149811867-149814872	HepG2	liver:	n/a	n/a
33	EBF1	chr1:149814594-149815115	GM12878	blood:	n/a	n/a
34	HEY1	chr1:149807768-149815109	K562	blood:	n/a	chr1:149812873-149812882 chr1:149812875-149812884
35	POLR2A	chr1:149810702-149815617	GM12891	blood:	n/a	n/a
36	NR2F2	chr1:149813673-149814843	K562	blood:	n/a	n/a
37	ZBTB33	chr1:149811097-149815029	K562	blood:	n/a	n/a
38	PAX5	chr1:149813764-149814763	GM12878	blood:	n/a	n/a
39	BATF	chr1:149812042-149815045	GM12878	blood:	n/a	chr1:149812872-149812885 chr1:149813006-149813015
40	MYC	chr1:149814032-149814821	MCF-7	breast:	n/a	n/a
41	EP300	chr1:149811443-149815069	GM12878	blood:	n/a	chr1:149813275-149813289 chr1:149813281-149813295
42	POLR2A	chr1:149811354-149814913	SK-N-MC	brain:	n/a	n/a
43	TAF1	chr1:149812323-149814969	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:149811224-149815063	A549	lung:	n/a	n/a
45	POLR2A	chr1:149810673-149815443	GM12891	blood:	n/a	n/a
46	SIN3AK20	chr1:149810881-149815194	SK-N-SH	brain:	n/a	n/a
47	ZBTB33	chr1:149813686-149815053	GM12878	blood:	n/a	n/a
48	NFIC	chr1:149811025-149815171	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:149811598-149814810	A549	lung:	n/a	n/a
50	RXRA	chr1:149814468-149814952	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
2	chr1:149814583..149816442-chr1:150038342..150040815,2	MCF-7	breast:
3	chr1:149813872..149815940-chr6:27838697..27841107,2	MCF-7	breast:
4	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
5	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
6	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
7	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
8	chr1:149813762..149815954-chr1:150208161..150209740,2	MCF-7	breast:
9	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
10	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

Variant related genes	Relation type
HIST2H3C	TF binding region
HIST2H2AA3	TF binding region
ENSG00000272993	TF binding region
ENSG00000143401	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000182572	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv869912	chr1:148936712-149815117	Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	413 gene(s)	inside rSNPs	diseases
3	esv1806395	chr1:149015282-149849940	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
4	esv1831586	chr1:149036382-149849940	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
5	nsv872384	chr1:149211496-149815536	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	nsv824564	chr1:149581035-149815116	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv831503	chr1:149640643-149820841	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv469694	chr1:149688852-149836280	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv482790	chr1:149688852-149836280	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
11	nsv946379	chr1:149792977-149815416	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv547843	chr1:149798606-149818466	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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