Variant report

Variant	rs2164658
Chromosome Location	chr19:56367360-56367361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr19:56367235-56367402	GM12878	blood:	n/a	n/a
2	TCF3	chr19:56367254-56367398	GM12878	blood:	n/a	n/a
3	PAX5	chr19:56367191-56367493	GM12878	blood:	n/a	n/a
4	PAX5	chr19:56367062-56367582	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56367316-56367366	NHBE	bronchial:	n/a
2	chr19:56367316-56367366	PANC-1	pancreas:	n/a
3	chr19:56367316-56367366	HMEC	breast:	n/a
4	chr19:56367316-56367366	MCF10A-Er-Src	breast:	n/a
5	chr19:56367316-56367366	HEEpiC	esophagus:	n/a
6	chr19:56367316-56367366	AG04449	skin:	fetal
7	chr19:56367316-56367366	GM06990	blood:	n/a
8	chr19:56367316-56367366	HCF	heart:	n/a
9	chr19:56367316-56367366	LNCaP	prostate:	n/a
10	chr19:56367316-56367366	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:56367316-56367366	T-47D	breast:	n/a
12	chr19:56367316-56367366	Caco-2	colon:	n/a
13	chr19:56367316-56367366	SKMC	muscle:	n/a
14	chr19:56367316-56367366	HCM	heart:	n/a
15	chr19:56367316-56367366	RPTEC	kidney:	n/a
16	chr19:56367316-56367366	H1-hESC	embryonic stem cell:	embryo
17	chr19:56367316-56367366	NT2-D1	testis:	n/a
18	chr19:56367316-56367366	SAEC	small airway:	n/a
19	chr19:56367316-56367366	HAEpiC	amniotic membrane:	n/a
20	chr19:56367316-56367366	HEK293	kidney:	embryo
21	chr19:56367316-56367366	GM12878	blood:	n/a
22	chr19:56367316-56367366	PrEC	prostate:	n/a
23	chr19:56367316-56367366	HNPCEpiC	eye:	n/a
24	chr19:56367316-56367366	IMR90	lung:	fetal
25	chr19:56367316-56367366	SK-N-SH	brain:	n/a
26	chr19:56367316-56367366	ProgFib	skin:	n/a
27	chr19:56367316-56367366	BE2_C	brain:	n/a
28	chr19:56367316-56367366	GM12892	blood:	n/a
29	chr19:56367316-56367366	U87	brain:	n/a
30	chr19:56367316-56367366	GM19239	blood:	n/a
31	chr19:56367316-56367366	HL-60	blood:	n/a
32	chr19:56367316-56367366	GM12891	blood:	n/a
33	chr19:56367316-56367366	SK-N-SH_RA	brain:	n/a
34	chr19:56367316-56367366	Hela-S3	cervix:	n/a
35	chr19:56367316-56367366	ovcar-3	ovarian:	n/a
36	chr19:56367316-56367366	AG09309	skin:	n/a
37	chr19:56367316-56367366	SK-N-MC	brain:	n/a
38	chr19:56367316-56367366	HRPEpiC	eye:	n/a
39	chr19:56367316-56367366	AG10803	skin:	n/a
40	chr19:56367316-56367366	Jurkat	blood:	n/a
41	chr19:56367316-56367366	AoSMC	blood vessel:	n/a
42	chr19:56367316-56367366	ECC-1	luminal epithelium:	n/a
43	chr19:56367316-56367366	PFSK-1	brain:	n/a
44	chr19:56367316-56367366	HIPEpiC	eye:	n/a
45	chr19:56367316-56367366	HCPEpiC	choroid plexus:	n/a
46	chr19:56367316-56367366	CMK	blood:	n/a
47	chr19:56367316-56367366	NB4	blood:	n/a
48	chr19:56367316-56367366	BJ	skin:	n/a
49	chr19:56367316-56367366	HRE	kidney:	n/a
50	chr19:56367316-56367366	A549	lung:	n/a

No data

Variant related genes	Relation type
NLRP4	TF binding region
NLRP4	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7258704	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv912505	chr19:56221584-56397196	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	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
7	nsv580346	chr19:56246520-56369314	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	nsv1059498	chr19:56331762-56369132	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
14	nsv544088	chr19:56331762-56369132	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv1058235	chr19:56358215-56393182	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	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
20	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
21	nsv912508	chr19:56364290-56436840	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56364600-56372200	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:56367200-56367400	Flanking Active TSS	GM12878-XiMat	blood

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