Variant report

Variant	rs550566624
Chromosome Location	chr19:51415194-51415195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51415152-51415202	HCM	heart:	n/a
2	chr19:51415170-51415220	ProgFib	skin:	n/a
3	chr19:51415170-51415220	NH-A	brain:	n/a
4	chr19:51415152-51415202	ECC-1	luminal epithelium:	n/a
5	chr19:51415152-51415202	GM12892	blood:	n/a
6	chr19:51415152-51415202	AG10803	skin:	n/a
7	chr19:51415170-51415220	BE2_C	brain:	n/a
8	chr19:51415152-51415202	AG09319	gingival:	n/a
9	chr19:51415152-51415202	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:51415152-51415202	U87	brain:	n/a
11	chr19:51415152-51415202	Hela-S3	cervix:	n/a
12	chr19:51415170-51415220	HAEpiC	amniotic membrane:	n/a
13	chr19:51415170-51415220	AG04449	skin:	fetal
14	chr19:51415170-51415220	HPAEpiC	pulmonary alveolar:	n/a
15	chr19:51415170-51415220	RPTEC	kidney:	n/a
16	chr19:51415152-51415202	HEEpiC	esophagus:	n/a
17	chr19:51415170-51415220	HEEpiC	esophagus:	n/a
18	chr19:51415152-51415202	BE2_C	brain:	n/a
19	chr19:51415170-51415220	Jurkat	blood:	n/a
20	chr19:51415152-51415202	AG09309	skin:	n/a
21	chr19:51415152-51415202	BJ	skin:	n/a
22	chr19:51415170-51415220	MCF10A-Er-Src	breast:	n/a
23	chr19:51415170-51415220	HCPEpiC	choroid plexus:	n/a
24	chr19:51415170-51415220	SK-N-SH	brain:	n/a
25	chr19:51415152-51415202	SAEC	small airway:	n/a
26	chr19:51415152-51415202	HRCEpiC	kidney:	n/a
27	chr19:51415152-51415202	HL-60	blood:	n/a
28	chr19:51415152-51415202	GM12878	blood:	n/a
29	chr19:51415170-51415220	T-47D	breast:	n/a
30	chr19:51415152-51415202	NHBE	bronchial:	n/a
31	chr19:51415152-51415202	IMR90	lung:	fetal
32	chr19:51415170-51415220	HRPEpiC	eye:	n/a
33	chr19:51415170-51415220	ovcar-3	ovarian:	n/a
34	chr19:51415152-51415202	HMEC	breast:	n/a
35	chr19:51415152-51415202	HRPEpiC	eye:	n/a
36	chr19:51415170-51415220	PrEC	prostate:	n/a
37	chr19:51415170-51415220	HUVEC	blood vessel:	n/a
38	chr19:51415170-51415220	AoSMC	blood vessel:	n/a
39	chr19:51415170-51415220	A549	lung:	n/a
40	chr19:51415170-51415220	HMEC	breast:	n/a
41	chr19:51415170-51415220	GM19239	blood:	n/a
42	chr19:51415170-51415220	CMK	blood:	n/a
43	chr19:51415170-51415220	U87	brain:	n/a
44	chr19:51415152-51415202	CMK	blood:	n/a
45	chr19:51415152-51415202	PANC-1	pancreas:	n/a
46	chr19:51415170-51415220	HRE	kidney:	n/a
47	chr19:51415170-51415220	Caco-2	colon:	n/a
48	chr19:51415152-51415202	MCF-7	breast:	n/a
49	chr19:51415152-51415202	HUVEC	blood vessel:	n/a
50	chr19:51415170-51415220	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51293560..51298277-chr19:51413419..51418761,7	K562	blood:
2	chr19:51413378..51415551-chr19:51610250..51611876,2	K562	blood:

No data

Variant related genes	Relation type
KLK4	CpG island
ENSG00000142544	Chromatin interaction
ENSG00000142513	Chromatin interaction
ENSG00000268375	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	esv3438577	chr19:51414940-51419738	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart

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