Variant report

Variant	rs10401897
Chromosome Location	chr19:51502695-51502696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51502607-51502708	Kidney_OC	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51502695-51502745	MCF-7	breast:	n/a
2	chr19:51502695-51502745	HNPCEpiC	eye:	n/a
3	chr19:51502695-51502745	HCM	heart:	n/a
4	chr19:51502695-51502745	ProgFib	skin:	n/a
5	chr19:51502695-51502745	HEK293	kidney:	embryo
6	chr19:51502695-51502745	GM06990	blood:	n/a
7	chr19:51502695-51502745	GM12892	blood:	n/a
8	chr19:51502695-51502745	BJ	skin:	n/a
9	chr19:51502695-51502745	HRPEpiC	eye:	n/a
10	chr19:51502695-51502745	HRE	kidney:	n/a
11	chr19:51502695-51502745	NT2-D1	testis:	n/a
12	chr19:51502695-51502745	HL-60	blood:	n/a
13	chr19:51502695-51502745	CMK	blood:	n/a
14	chr19:51502695-51502745	SKMC	muscle:	n/a
15	chr19:51502695-51502745	HEEpiC	esophagus:	n/a
16	chr19:51502695-51502745	LNCaP	prostate:	n/a
17	chr19:51502695-51502745	H1-hESC	embryonic stem cell:	embryo
18	chr19:51502695-51502745	GM12891	blood:	n/a
19	chr19:51502695-51502745	SK-N-MC	brain:	n/a
20	chr19:51502695-51502745	NH-A	brain:	n/a
21	chr19:51502695-51502745	AG04449	skin:	fetal
22	chr19:51502695-51502745	AG09319	gingival:	n/a
23	chr19:51502695-51502745	NB4	blood:	n/a
24	chr19:51502695-51502745	IMR90	lung:	fetal
25	chr19:51502695-51502745	NHDF-neo	bronchial:	n/a
26	chr19:51502695-51502745	PrEC	prostate:	n/a
27	chr19:51502695-51502745	PANC-1	pancreas:	n/a
28	chr19:51502695-51502745	MCF10A-Er-Src	breast:	n/a
29	chr19:51502695-51502745	ovcar-3	ovarian:	n/a
30	chr19:51502695-51502745	HIPEpiC	eye:	n/a
31	chr19:51502695-51502745	Hela-S3	cervix:	n/a
32	chr19:51502695-51502745	RPTEC	kidney:	n/a
33	chr19:51502695-51502745	SAEC	small airway:	n/a
34	chr19:51502695-51502745	HMEC	breast:	n/a
35	chr19:51502695-51502745	PFSK-1	brain:	n/a
36	chr19:51502695-51502745	GM19239	blood:	n/a
37	chr19:51502695-51502745	Caco-2	colon:	n/a
38	chr19:51502695-51502745	AG09309	skin:	n/a
39	chr19:51502695-51502745	NHBE	bronchial:	n/a
40	chr19:51502695-51502745	HUVEC	blood vessel:	n/a
41	chr19:51502695-51502745	AG04450	lung:	fetal
42	chr19:51502695-51502745	HCPEpiC	choroid plexus:	n/a
43	chr19:51502695-51502745	Jurkat	blood:	n/a
44	chr19:51502695-51502745	AG10803	skin:	n/a
45	chr19:51502695-51502745	A549	lung:	n/a
46	chr19:51502695-51502745	AoSMC	blood vessel:	n/a
47	chr19:51502695-51502745	T-47D	breast:	n/a
48	chr19:51502695-51502745	BE2_C	brain:	n/a
49	chr19:51502695-51502745	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:51502695-51502745	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
KLK8	TF binding region
KLK8	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10401906	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408459	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10415816	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10418308	0.86[EUR][1000 genomes]
rs10451448	0.93[EUR][1000 genomes]
rs13344653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28707546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34542531	0.84[AMR][1000 genomes]
rs56707394	0.93[AMR][1000 genomes]
rs7255673	0.86[EUR][1000 genomes]
rs73595598	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058277	chr19:51488544-51509847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51496600-51503000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:51498000-51503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51499800-51503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51502200-51503200	Enhancers	HMEC	breast
5	chr19:51502200-51503400	Genic enhancers	NHEK	skin
6	chr19:51502400-51503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:51502600-51503200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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