Variant report

Variant	rs188517761
Chromosome Location	chr15:30264309-30264310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr15:30264090-30264547	U2OS	brain:	n/a	n/a
2	ZNF143	chr15:30264213-30264434	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30264290-30264340	NHDF-neo	bronchial:	n/a
2	chr15:30264290-30264340	BJ	skin:	n/a
3	chr15:30264290-30264340	HEEpiC	esophagus:	n/a
4	chr15:30264290-30264340	HL-60	blood:	n/a
5	chr15:30264290-30264340	H1-hESC	embryonic stem cell:	embryo
6	chr15:30264290-30264340	AG09309	skin:	n/a
7	chr15:30264290-30264340	HAEpiC	amniotic membrane:	n/a
8	chr15:30264290-30264340	MCF10A-Er-Src	breast:	n/a
9	chr15:30264290-30264340	SK-N-MC	brain:	n/a
10	chr15:30264290-30264340	BE2_C	brain:	n/a
11	chr15:30264290-30264340	SK-N-SH_RA	brain:	n/a
12	chr15:30264290-30264340	IMR90	lung:	fetal
13	chr15:30264290-30264340	AG04449	skin:	fetal
14	chr15:30264290-30264340	SK-N-SH	brain:	n/a
15	chr15:30264290-30264340	GM12878	blood:	n/a
16	chr15:30264290-30264340	GM12892	blood:	n/a
17	chr15:30264290-30264340	HCF	heart:	n/a
18	chr15:30264290-30264340	HUVEC	blood vessel:	n/a
19	chr15:30264290-30264340	HIPEpiC	eye:	n/a
20	chr15:30264290-30264340	Hela-S3	cervix:	n/a
21	chr15:30264290-30264340	HCPEpiC	choroid plexus:	n/a
22	chr15:30264290-30264340	MCF-7	breast:	n/a
23	chr15:30264290-30264340	GM12891	blood:	n/a
24	chr15:30264290-30264340	HepG2	liver:	n/a
25	chr15:30264290-30264340	HEK293	kidney:	embryo
26	chr15:30264290-30264340	HCT-116	colon:	n/a
27	chr15:30264290-30264340	NHBE	bronchial:	n/a
28	chr15:30264290-30264340	HCM	heart:	n/a
29	chr15:30264290-30264340	NB4	blood:	n/a
30	chr15:30264290-30264340	HRCEpiC	kidney:	n/a
31	chr15:30264290-30264340	RPTEC	kidney:	n/a
32	chr15:30264290-30264340	Caco-2	colon:	n/a
33	chr15:30264290-30264340	SAEC	small airway:	n/a
34	chr15:30264290-30264340	T-47D	breast:	n/a
35	chr15:30264290-30264340	PANC-1	pancreas:	n/a
36	chr15:30264290-30264340	CMK	blood:	n/a
37	chr15:30264290-30264340	HRE	kidney:	n/a
38	chr15:30264290-30264340	PFSK-1	brain:	n/a
39	chr15:30264290-30264340	U87	brain:	n/a
40	chr15:30264290-30264340	HRPEpiC	eye:	n/a
41	chr15:30264290-30264340	HPAEpiC	pulmonary alveolar:	n/a
42	chr15:30264290-30264340	ovcar-3	ovarian:	n/a
43	chr15:30264290-30264340	LNCaP	prostate:	n/a
44	chr15:30264290-30264340	GM06990	blood:	n/a
45	chr15:30264290-30264340	NH-A	brain:	n/a
46	chr15:30264290-30264340	AG04450	lung:	fetal
47	chr15:30264290-30264340	ProgFib	skin:	n/a
48	chr15:30264290-30264340	Jurkat	blood:	n/a
49	chr15:30264290-30264340	AoSMC	blood vessel:	n/a
50	chr15:30264290-30264340	A549	lung:	n/a

No data

Variant related genes	Relation type
TJP1	TF binding region
TJP1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	nsv903756	chr15:30220424-30281105	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1054008	chr15:30220707-30351687	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv542294	chr15:30220707-30351687	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv2751527	chr15:30245808-30605836	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv984196	chr15:30263786-30291037	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30263200-30270200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:30264000-30264400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr15:30264000-30264400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:30264000-30264400	Enhancers	NHEK	skin

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