Variant report

Variant	rs17280181
Chromosome Location	chr16:71523514-71523515
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:6)
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	chr16:71523475-71523525	HL-60	blood:	n/a
2	chr16:71523475-71523525	NT2-D1	testis:	n/a
3	chr16:71523475-71523525	SAEC	small airway:	n/a
4	chr16:71523475-71523525	IMR90	lung:	fetal
5	chr16:71523475-71523525	T-47D	breast:	n/a
6	chr16:71523475-71523525	HPAEpiC	pulmonary alveolar:	n/a
7	chr16:71523475-71523525	GM06990	blood:	n/a
8	chr16:71523475-71523525	HCF	heart:	n/a
9	chr16:71523475-71523525	BE2_C	brain:	n/a
10	chr16:71523475-71523525	LNCaP	prostate:	n/a
11	chr16:71523475-71523525	SK-N-SH_RA	brain:	n/a
12	chr16:71523475-71523525	PANC-1	pancreas:	n/a
13	chr16:71523475-71523525	HRE	kidney:	n/a
14	chr16:71523475-71523525	SKMC	muscle:	n/a
15	chr16:71523475-71523525	GM12892	blood:	n/a
16	chr16:71523475-71523525	NHBE	bronchial:	n/a
17	chr16:71523475-71523525	ECC-1	luminal epithelium:	n/a
18	chr16:71523475-71523525	ProgFib	skin:	n/a
19	chr16:71523475-71523525	CMK	blood:	n/a
20	chr16:71523475-71523525	NH-A	brain:	n/a
21	chr16:71523475-71523525	AG09309	skin:	n/a
22	chr16:71523475-71523525	NB4	blood:	n/a
23	chr16:71523475-71523525	U87	brain:	n/a
24	chr16:71523475-71523525	HMEC	breast:	n/a
25	chr16:71523475-71523525	HepG2	liver:	n/a
26	chr16:71523475-71523525	RPTEC	kidney:	n/a
27	chr16:71523475-71523525	AG09319	gingival:	n/a
28	chr16:71523475-71523525	PrEC	prostate:	n/a
29	chr16:71523475-71523525	GM12891	blood:	n/a
30	chr16:71523475-71523525	HEEpiC	esophagus:	n/a
31	chr16:71523475-71523525	HRPEpiC	eye:	n/a
32	chr16:71523475-71523525	HIPEpiC	eye:	n/a
33	chr16:71523475-71523525	Jurkat	blood:	n/a
34	chr16:71523475-71523525	K562	blood:	n/a
35	chr16:71523475-71523525	HRCEpiC	kidney:	n/a
36	chr16:71523475-71523525	Caco-2	colon:	n/a
37	chr16:71523475-71523525	AoSMC	blood vessel:	n/a
38	chr16:71523475-71523525	HCM	heart:	n/a
39	chr16:71523475-71523525	AG10803	skin:	n/a
40	chr16:71523475-71523525	GM12878	blood:	n/a
41	chr16:71523475-71523525	HEK293	kidney:	embryo
42	chr16:71523475-71523525	A549	lung:	n/a
43	chr16:71523475-71523525	HCPEpiC	choroid plexus:	n/a
44	chr16:71523475-71523525	GM19239	blood:	n/a
45	chr16:71523475-71523525	SK-N-SH	brain:	n/a
46	chr16:71523475-71523525	MCF10A-Er-Src	breast:	n/a
47	chr16:71523475-71523525	HUVEC	blood vessel:	n/a
48	chr16:71523475-71523525	SK-N-MC	brain:	n/a
49	chr16:71523475-71523525	ovcar-3	ovarian:	n/a
50	chr16:71523475-71523525	BJ	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71496289..71499159-chr16:71523372..71525496,2	K562	blood:
2	chr16:71517111..71518667-chr16:71521366..71523864,2	K562	blood:
3	chr16:71517404..71519756-chr16:71521184..71524689,3	MCF-7	breast:
4	chr16:71515755..71518920-chr16:71520634..71524924,4	K562	blood:
5	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
6	chr16:71516946..71520167-chr16:71520825..71527785,6	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF19	CpG island
ENSG00000261611	CpG island
ENSG00000247324	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12447033	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12708914	0.86[EUR][1000 genomes]
rs12919417	1.00[YRI][hapmap]
rs12922775	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12927006	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12927456	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17345863	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17347255	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34015581	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34181942	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34380814	0.91[EUR][1000 genomes]
rs34766979	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34849731	0.92[AMR][1000 genomes]
rs35394108	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35837657	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35981926	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36122765	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71403847	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71403849	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7195767	0.86[EUR][1000 genomes]
rs7203606	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8051974	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8053720	1.00[CEU][hapmap]
rs8064179	0.81[AFR][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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71518600-71523800	Weak transcription	Lung	lung
2	chr16:71519000-71523600	Weak transcription	K562	blood
3	chr16:71523400-71523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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