Variant report

Variant	rs556123332
Chromosome Location	chr19:41388425-41388426
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	chr19:41388384-41388434	NHDF-neo	bronchial:	n/a
2	chr19:41388384-41388434	NT2-D1	testis:	n/a
3	chr19:41388384-41388434	SK-N-MC	brain:	n/a
4	chr19:41388384-41388434	PANC-1	pancreas:	n/a
5	chr19:41388384-41388434	SAEC	small airway:	n/a
6	chr19:41388384-41388434	U87	brain:	n/a
7	chr19:41388384-41388434	HCPEpiC	choroid plexus:	n/a
8	chr19:41388384-41388434	AG10803	skin:	n/a
9	chr19:41388384-41388434	A549	lung:	n/a
10	chr19:41388384-41388434	SK-N-SH	brain:	n/a
11	chr19:41388384-41388434	HRE	kidney:	n/a
12	chr19:41388384-41388434	PrEC	prostate:	n/a
13	chr19:41388384-41388434	GM19239	blood:	n/a
14	chr19:41388384-41388434	HL-60	blood:	n/a
15	chr19:41388384-41388434	LNCaP	prostate:	n/a
16	chr19:41388384-41388434	BE2_C	brain:	n/a
17	chr19:41388384-41388434	PFSK-1	brain:	n/a
18	chr19:41388384-41388434	AG04449	skin:	fetal
19	chr19:41388384-41388434	IMR90	lung:	fetal
20	chr19:41388384-41388434	ECC-1	luminal epithelium:	n/a
21	chr19:41388384-41388434	HCF	heart:	n/a
22	chr19:41388384-41388434	GM12891	blood:	n/a
23	chr19:41388384-41388434	HNPCEpiC	eye:	n/a
24	chr19:41388384-41388434	Hepatocyte	liver:	n/a
25	chr19:41388384-41388434	GM12892	blood:	n/a
26	chr19:41388384-41388434	H1-hESC	embryonic stem cell:	embryo
27	chr19:41388384-41388434	HIPEpiC	eye:	n/a
28	chr19:41388384-41388434	HMEC	breast:	n/a
29	chr19:41388384-41388434	ovcar-3	ovarian:	n/a
30	chr19:41388384-41388434	HEK293	kidney:	embryo
31	chr19:41388384-41388434	AG04450	lung:	fetal
32	chr19:41388384-41388434	AG09309	skin:	n/a
33	chr19:41388384-41388434	NHBE	bronchial:	n/a
34	chr19:41388384-41388434	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:41388384-41388434	Hela-S3	cervix:	n/a
36	chr19:41388384-41388434	Caco-2	colon:	n/a
37	chr19:41388384-41388434	ProgFib	skin:	n/a
38	chr19:41388384-41388434	NB4	blood:	n/a
39	chr19:41388384-41388434	T-47D	breast:	n/a
40	chr19:41388384-41388434	AoSMC	blood vessel:	n/a
41	chr19:41388384-41388434	HAEpiC	amniotic membrane:	n/a
42	chr19:41388384-41388434	Jurkat	blood:	n/a
43	chr19:41388384-41388434	HepG2	liver:	n/a
44	chr19:41388384-41388434	RPTEC	kidney:	n/a
45	chr19:41388384-41388434	GM12878	blood:	n/a
46	chr19:41388384-41388434	HEEpiC	esophagus:	n/a
47	chr19:41388384-41388434	HUVEC	blood vessel:	n/a
48	chr19:41388384-41388434	HRCEpiC	kidney:	n/a
49	chr19:41388384-41388434	BJ	skin:	n/a
50	chr19:41388384-41388434	CMK	blood:	n/a

No data

Variant related genes	Relation type
CYP2A7	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv14395	chr19:41337301-41393256	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv9729	chr19:41337805-41394407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv911734	chr19:41337923-41392885	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1830996	chr19:41338610-41391238	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1832383	chr19:41338610-41393111	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1065886	chr19:41339857-41397661	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv33053	chr19:41340629-41400635	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1827139	chr19:41348820-41395889	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv911752	chr19:41352263-41392885	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1060398	chr19:41352371-41392154	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1056372	chr19:41352371-41392885	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1062790	chr19:41352725-41392154	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv579548	chr19:41354629-41392885	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv911755	chr19:41354629-41392885	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv579549	chr19:41354629-41393760	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv579556	chr19:41355999-41393760	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv1831789	chr19:41359391-41393244	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1063860	chr19:41360131-41392154	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv1066009	chr19:41360131-41392885	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv1056284	chr19:41360131-41399887	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv1064217	chr19:41360160-41392154	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	nsv1056686	chr19:41360358-41392154	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	nsv1055263	chr19:41360358-41397661	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	nsv1060679	chr19:41361082-41392154	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv1061654	chr19:41361082-41392885	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	nsv579592	chr19:41381501-41389306	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
34	nsv579593	chr19:41381501-41392490	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
35	nsv978816	chr19:41388339-41391686	Enhancers Weak transcription	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	chr19:41387000-41389800	Enhancers	Liver	Liver
2	chr19:41387800-41388600	Enhancers	Fetal Intestine Small	intestine
3	chr19:41387800-41388800	Enhancers	Stomach Mucosa	stomach
4	chr19:41388400-41390200	Weak transcription	Fetal Intestine Large	intestine

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