Variant report

Variant	rs375633401
Chromosome Location	chr4:187477085-187477086
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	MAX	chr4:187476136-187477089	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
2	GATA3	chr4:187476927-187477123	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr4:187476443-187477110	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
4	GATA2	chr4:187476702-187477089	SH-SY5Y	brain:	n/a	n/a
5	MAX	chr4:187476206-187477091	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
6	MYC	chr4:187476324-187477124	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
7	MAX	chr4:187476113-187477137	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
8	MAX	chr4:187476133-187477114	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
9	GATA3	chr4:187476779-187477138	MCF-7	breast:	n/a	n/a
10	RAD21	chr4:187476534-187477110	HCT-116	colon:	n/a	chr4:187476688-187476697 chr4:187476679-187476698

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187477065-187477115	HCF	heart:	n/a
2	chr4:187477065-187477115	NHDF-neo	bronchial:	n/a
3	chr4:187477065-187477115	NH-A	brain:	n/a
4	chr4:187477065-187477115	T-47D	breast:	n/a
5	chr4:187477065-187477115	SK-N-MC	brain:	n/a
6	chr4:187477065-187477115	HRPEpiC	eye:	n/a
7	chr4:187477065-187477115	AG04449	skin:	fetal
8	chr4:187477065-187477115	Hepatocyte	liver:	n/a
9	chr4:187477065-187477115	PFSK-1	brain:	n/a
10	chr4:187477065-187477115	AG09319	gingival:	n/a
11	chr4:187477065-187477115	ovcar-3	ovarian:	n/a
12	chr4:187477065-187477115	SKMC	muscle:	n/a
13	chr4:187477065-187477115	IMR90	lung:	fetal
14	chr4:187477065-187477115	HCPEpiC	choroid plexus:	n/a
15	chr4:187477065-187477115	AG09309	skin:	n/a
16	chr4:187477065-187477115	K562	blood:	n/a
17	chr4:187477065-187477115	RPTEC	kidney:	n/a
18	chr4:187477065-187477115	HRE	kidney:	n/a
19	chr4:187477065-187477115	U87	brain:	n/a
20	chr4:187477065-187477115	Caco-2	colon:	n/a
21	chr4:187477065-187477115	ProgFib	skin:	n/a
22	chr4:187477065-187477115	SAEC	small airway:	n/a
23	chr4:187477065-187477115	PANC-1	pancreas:	n/a
24	chr4:187477065-187477115	HRCEpiC	kidney:	n/a
25	chr4:187477065-187477115	GM12878	blood:	n/a
26	chr4:187477065-187477115	HCT-116	colon:	n/a
27	chr4:187477065-187477115	HNPCEpiC	eye:	n/a
28	chr4:187477065-187477115	HCM	heart:	n/a
29	chr4:187477065-187477115	HIPEpiC	eye:	n/a
30	chr4:187477065-187477115	A549	lung:	n/a
31	chr4:187477065-187477115	AG04450	lung:	fetal
32	chr4:187477065-187477115	HEEpiC	esophagus:	n/a
33	chr4:187477065-187477115	MCF10A-Er-Src	breast:	n/a
34	chr4:187477065-187477115	HepG2	liver:	n/a
35	chr4:187477065-187477115	CMK	blood:	n/a
36	chr4:187477065-187477115	LNCaP	prostate:	n/a
37	chr4:187477065-187477115	Jurkat	blood:	n/a
38	chr4:187477065-187477115	SK-N-SH_RA	brain:	n/a
39	chr4:187477065-187477115	MCF-7	breast:	n/a
40	chr4:187477065-187477115	HUVEC	blood vessel:	n/a
41	chr4:187477065-187477115	GM19239	blood:	n/a
42	chr4:187477065-187477115	GM12891	blood:	n/a
43	chr4:187477065-187477115	HAEpiC	amniotic membrane:	n/a
44	chr4:187477065-187477115	ECC-1	luminal epithelium:	n/a
45	chr4:187477065-187477115	PrEC	prostate:	n/a
46	chr4:187477065-187477115	HL-60	blood:	n/a
47	chr4:187477065-187477115	GM06990	blood:	n/a
48	chr4:187477065-187477115	SK-N-SH	brain:	n/a
49	chr4:187477065-187477115	AoSMC	blood vessel:	n/a
50	chr4:187477065-187477115	Hela-S3	cervix:	n/a

Variant related genes	Relation type
ENSG00000272297	TF binding region
MTNR1A	TF binding region
MTNR1A	CpG island
ENSG00000272297	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
2	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv3373676	chr4:187475483-187478331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187475200-187477200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:187475800-187477200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:187476200-187477200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:187476800-187477200	Bivalent Enhancer	HepG2	liver
5	chr4:187477000-187477200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr4:187477000-187477200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr4:187477000-187477200	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr4:187477000-187477200	Enhancers	A549	lung
9	chr4:187477000-187477200	Bivalent Enhancer	NHEK	skin
10	chr4:187477000-187478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:187477000-187478200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:187477000-187482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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