Variant report

Variant	rs184421915
Chromosome Location	chr19:51415450-51415451
allele	C/T
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:2)
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	chr19:51415450-51415500	IMR90	lung:	fetal
2	chr19:51415450-51415500	SKMC	muscle:	n/a
3	chr19:51415450-51415500	U87	brain:	n/a
4	chr19:51415450-51415500	MCF10A-Er-Src	breast:	n/a
5	chr19:51415450-51415500	HepG2	liver:	n/a
6	chr19:51415450-51415500	AG10803	skin:	n/a
7	chr19:51415450-51415500	HMEC	breast:	n/a
8	chr19:51415450-51415500	AG04449	skin:	fetal
9	chr19:51415450-51415500	BJ	skin:	n/a
10	chr19:51415450-51415500	SAEC	small airway:	n/a
11	chr19:51415450-51415500	HCF	heart:	n/a
12	chr19:51415450-51415500	Hepatocyte	liver:	n/a
13	chr19:51415450-51415500	ECC-1	luminal epithelium:	n/a
14	chr19:51415450-51415500	T-47D	breast:	n/a
15	chr19:51415450-51415500	RPTEC	kidney:	n/a
16	chr19:51415450-51415500	AoSMC	blood vessel:	n/a
17	chr19:51415450-51415500	H1-hESC	embryonic stem cell:	embryo
18	chr19:51415450-51415500	Hela-S3	cervix:	n/a
19	chr19:51415450-51415500	Jurkat	blood:	n/a
20	chr19:51415450-51415500	PANC-1	pancreas:	n/a
21	chr19:51415450-51415500	HEK293	kidney:	embryo
22	chr19:51415450-51415500	AG09319	gingival:	n/a
23	chr19:51415450-51415500	ProgFib	skin:	n/a
24	chr19:51415450-51415500	HL-60	blood:	n/a
25	chr19:51415450-51415500	GM19239	blood:	n/a
26	chr19:51415450-51415500	K562	blood:	n/a
27	chr19:51415450-51415500	HRCEpiC	kidney:	n/a
28	chr19:51415450-51415500	HCM	heart:	n/a
29	chr19:51415450-51415500	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:51415450-51415500	NT2-D1	testis:	n/a
31	chr19:51415450-51415500	HRPEpiC	eye:	n/a
32	chr19:51415450-51415500	HCPEpiC	choroid plexus:	n/a
33	chr19:51415450-51415500	GM12878	blood:	n/a
34	chr19:51415450-51415500	GM06990	blood:	n/a
35	chr19:51415450-51415500	BE2_C	brain:	n/a
36	chr19:51415450-51415500	LNCaP	prostate:	n/a
37	chr19:51415450-51415500	HIPEpiC	eye:	n/a
38	chr19:51415450-51415500	PrEC	prostate:	n/a
39	chr19:51415450-51415500	SK-N-SH	brain:	n/a
40	chr19:51415450-51415500	HAEpiC	amniotic membrane:	n/a
41	chr19:51415450-51415500	SK-N-SH_RA	brain:	n/a
42	chr19:51415450-51415500	ovcar-3	ovarian:	n/a
43	chr19:51415450-51415500	HUVEC	blood vessel:	n/a
44	chr19:51415450-51415500	SK-N-MC	brain:	n/a
45	chr19:51415450-51415500	HEEpiC	esophagus:	n/a
46	chr19:51415450-51415500	NHDF-neo	bronchial:	n/a
47	chr19:51415450-51415500	AG04450	lung:	fetal
48	chr19:51415450-51415500	HCT-116	colon:	n/a
49	chr19:51415450-51415500	MCF-7	breast:	n/a
50	chr19:51415450-51415500	AG09309	skin:	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
ENSG00000268375	Chromatin interaction
ENSG00000142544	Chromatin interaction
ENSG00000142513	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3512692	chr19:51415440-51418251	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3512693	chr19:51415440-51418251	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
2	chr19:51415200-51415600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr19:51415200-51415800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51415200-51415800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr19:51415200-51416200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:51415400-51415600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:51415400-51416200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:51415400-51416400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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