Variant report

Variant	rs574948051
Chromosome Location	chr19:40229216-40229217
allele	A/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	chr19:40229215-40229265	SK-N-SH_RA	brain:	n/a
2	chr19:40229215-40229265	HMEC	breast:	n/a
3	chr19:40229215-40229265	AG09309	skin:	n/a
4	chr19:40229215-40229265	HNPCEpiC	eye:	n/a
5	chr19:40229215-40229265	NB4	blood:	n/a
6	chr19:40229215-40229265	BE2_C	brain:	n/a
7	chr19:40229215-40229265	HIPEpiC	eye:	n/a
8	chr19:40229215-40229265	LNCaP	prostate:	n/a
9	chr19:40229215-40229265	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:40229215-40229265	AG10803	skin:	n/a
11	chr19:40229215-40229265	NH-A	brain:	n/a
12	chr19:40229215-40229265	ovcar-3	ovarian:	n/a
13	chr19:40229215-40229265	PFSK-1	brain:	n/a
14	chr19:40229215-40229265	NHDF-neo	bronchial:	n/a
15	chr19:40229215-40229265	SAEC	small airway:	n/a
16	chr19:40229215-40229265	GM19239	blood:	n/a
17	chr19:40229215-40229265	GM12891	blood:	n/a
18	chr19:40229215-40229265	HepG2	liver:	n/a
19	chr19:40229215-40229265	BJ	skin:	n/a
20	chr19:40229215-40229265	ProgFib	skin:	n/a
21	chr19:40229215-40229265	ECC-1	luminal epithelium:	n/a
22	chr19:40229215-40229265	HCF	heart:	n/a
23	chr19:40229215-40229265	GM12878	blood:	n/a
24	chr19:40229215-40229265	AoSMC	blood vessel:	n/a
25	chr19:40229215-40229265	HL-60	blood:	n/a
26	chr19:40229215-40229265	HRPEpiC	eye:	n/a
27	chr19:40229215-40229265	A549	lung:	n/a
28	chr19:40229215-40229265	GM06990	blood:	n/a
29	chr19:40229215-40229265	Hepatocyte	liver:	n/a
30	chr19:40229215-40229265	Jurkat	blood:	n/a
31	chr19:40229215-40229265	HEEpiC	esophagus:	n/a
32	chr19:40229215-40229265	HCM	heart:	n/a
33	chr19:40229215-40229265	MCF10A-Er-Src	breast:	n/a
34	chr19:40229215-40229265	NT2-D1	testis:	n/a
35	chr19:40229215-40229265	AG04449	skin:	fetal
36	chr19:40229215-40229265	HRCEpiC	kidney:	n/a
37	chr19:40229215-40229265	IMR90	lung:	fetal
38	chr19:40229215-40229265	HRE	kidney:	n/a
39	chr19:40229215-40229265	MCF-7	breast:	n/a
40	chr19:40229215-40229265	AG04450	lung:	fetal
41	chr19:40229215-40229265	Caco-2	colon:	n/a
42	chr19:40229215-40229265	K562	blood:	n/a
43	chr19:40229215-40229265	PANC-1	pancreas:	n/a
44	chr19:40229215-40229265	RPTEC	kidney:	n/a
45	chr19:40229215-40229265	GM12892	blood:	n/a
46	chr19:40229215-40229265	HEK293	kidney:	embryo
47	chr19:40229215-40229265	H1-hESC	embryonic stem cell:	embryo
48	chr19:40229215-40229265	AG09319	gingival:	n/a
49	chr19:40229215-40229265	T-47D	breast:	n/a
50	chr19:40229215-40229265	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
CLC	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	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv911695	chr19:40217794-40235008	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv978750	chr19:40228783-40230366	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40225600-40229400	Enhancers	GM12878-XiMat	blood
2	chr19:40227800-40229600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40228600-40230200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:40228800-40229400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr19:40228800-40230000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr19:40228800-40230600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:40228800-40231200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:40229200-40230600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:40229200-40230800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:40229200-40237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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