Variant report

Variant	rs513576
Chromosome Location	chr19:56444206-56444207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56444163-56444213	BJ	skin:	n/a
2	chr19:56444163-56444213	AG04449	skin:	fetal
3	chr19:56444163-56444213	HUVEC	blood vessel:	n/a
4	chr19:56444163-56444213	AG04450	lung:	fetal
5	chr19:56444163-56444213	MCF10A-Er-Src	breast:	n/a
6	chr19:56444163-56444213	AG09319	gingival:	n/a
7	chr19:56444163-56444213	HepG2	liver:	n/a
8	chr19:56444163-56444213	T-47D	breast:	n/a
9	chr19:56444163-56444213	A549	lung:	n/a
10	chr19:56444163-56444213	NT2-D1	testis:	n/a
11	chr19:56444163-56444213	SKMC	muscle:	n/a
12	chr19:56444163-56444213	Jurkat	blood:	n/a
13	chr19:56444163-56444213	AG09309	skin:	n/a
14	chr19:56444163-56444213	HRCEpiC	kidney:	n/a
15	chr19:56444163-56444213	RPTEC	kidney:	n/a
16	chr19:56444163-56444213	GM19239	blood:	n/a
17	chr19:56444163-56444213	SK-N-SH	brain:	n/a
18	chr19:56444163-56444213	HCPEpiC	choroid plexus:	n/a
19	chr19:56444163-56444213	CMK	blood:	n/a
20	chr19:56444163-56444213	HEK293	kidney:	embryo
21	chr19:56444163-56444213	HMEC	breast:	n/a
22	chr19:56444163-56444213	HIPEpiC	eye:	n/a
23	chr19:56444163-56444213	HCF	heart:	n/a
24	chr19:56444163-56444213	PANC-1	pancreas:	n/a
25	chr19:56444163-56444213	H1-hESC	embryonic stem cell:	embryo
26	chr19:56444163-56444213	NHBE	bronchial:	n/a
27	chr19:56444163-56444213	Caco-2	colon:	n/a
28	chr19:56444163-56444213	GM12891	blood:	n/a
29	chr19:56444163-56444213	SK-N-MC	brain:	n/a
30	chr19:56444163-56444213	HNPCEpiC	eye:	n/a
31	chr19:56444163-56444213	BE2_C	brain:	n/a
32	chr19:56444163-56444213	Hepatocyte	liver:	n/a
33	chr19:56444163-56444213	NHDF-neo	bronchial:	n/a
34	chr19:56444163-56444213	PFSK-1	brain:	n/a
35	chr19:56444163-56444213	HL-60	blood:	n/a
36	chr19:56444163-56444213	HEEpiC	esophagus:	n/a
37	chr19:56444163-56444213	ECC-1	luminal epithelium:	n/a
38	chr19:56444163-56444213	K562	blood:	n/a
39	chr19:56444163-56444213	GM06990	blood:	n/a
40	chr19:56444163-56444213	ProgFib	skin:	n/a
41	chr19:56444163-56444213	SK-N-SH_RA	brain:	n/a
42	chr19:56444163-56444213	HRPEpiC	eye:	n/a
43	chr19:56444163-56444213	PrEC	prostate:	n/a
44	chr19:56444163-56444213	NH-A	brain:	n/a
45	chr19:56444163-56444213	AG10803	skin:	n/a
46	chr19:56444163-56444213	Hela-S3	cervix:	n/a
47	chr19:56444163-56444213	GM12878	blood:	n/a
48	chr19:56444163-56444213	NB4	blood:	n/a
49	chr19:56444163-56444213	MCF-7	breast:	n/a
50	chr19:56444163-56444213	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
NLRP13	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057383	chr19:56211031-56456028	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1057857	chr19:56220876-56548518	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv544086	chr19:56220876-56548518	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1060837	chr19:56233565-56513508	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1063356	chr19:56257156-56489029	Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv544087	chr19:56257156-56489029	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1060072	chr19:56289331-56450495	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv580349	chr19:56318794-56539240	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064105	chr19:56319416-56450532	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
11	nsv912507	chr19:56348516-56588096	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv580350	chr19:56353664-56515334	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1057416	chr19:56358215-56572824	ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv544089	chr19:56358215-56572824	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1061322	chr19:56364488-56562450	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1062406	chr19:56382492-56602374	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1058988	chr19:56382492-56609032	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv1064693	chr19:56384193-56538729	ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv544090	chr19:56384193-56538729	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1067116	chr19:56418215-56450532	ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
22	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
23	nsv1064418	chr19:56423952-56568175	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv544091	chr19:56423952-56568175	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv458834	chr19:56439438-56498793	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv580351	chr19:56439438-56498793	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv432088	chr19:56439615-56466705	ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv1062408	chr19:56441269-56489029	Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv544092	chr19:56441269-56489029	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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