Variant report

Variant	rs17345863
Chromosome Location	chr16:71523261-71523262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71523242-71523334	A549	lung:	n/a	n/a
2	CTCF	chr16:71523180-71523330	WERI-Rb-1	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71523259-71523309	RPTEC	kidney:	n/a
2	chr16:71523259-71523309	HUVEC	blood vessel:	n/a
3	chr16:71523259-71523309	IMR90	lung:	fetal
4	chr16:71523259-71523309	HL-60	blood:	n/a
5	chr16:71523259-71523309	GM19239	blood:	n/a
6	chr16:71523259-71523309	SK-N-SH	brain:	n/a
7	chr16:71523259-71523309	NHDF-neo	bronchial:	n/a
8	chr16:71523259-71523309	AG10803	skin:	n/a
9	chr16:71523259-71523309	A549	lung:	n/a
10	chr16:71523259-71523309	AG09309	skin:	n/a
11	chr16:71523259-71523309	HCT-116	colon:	n/a
12	chr16:71523259-71523309	HRPEpiC	eye:	n/a
13	chr16:71523259-71523309	HRE	kidney:	n/a
14	chr16:71523259-71523309	GM06990	blood:	n/a
15	chr16:71523259-71523309	GM12891	blood:	n/a
16	chr16:71523259-71523309	HEEpiC	esophagus:	n/a
17	chr16:71523259-71523309	NB4	blood:	n/a
18	chr16:71523259-71523309	SK-N-MC	brain:	n/a
19	chr16:71523259-71523309	AG09319	gingival:	n/a
20	chr16:71523259-71523309	HCF	heart:	n/a
21	chr16:71523259-71523309	Hepatocyte	liver:	n/a
22	chr16:71523259-71523309	HNPCEpiC	eye:	n/a
23	chr16:71523259-71523309	PANC-1	pancreas:	n/a
24	chr16:71523259-71523309	HepG2	liver:	n/a
25	chr16:71523259-71523309	H1-hESC	embryonic stem cell:	embryo
26	chr16:71523259-71523309	ProgFib	skin:	n/a
27	chr16:71523259-71523309	T-47D	breast:	n/a
28	chr16:71523259-71523309	NHBE	bronchial:	n/a
29	chr16:71523259-71523309	GM12878	blood:	n/a
30	chr16:71523259-71523309	SKMC	muscle:	n/a
31	chr16:71523259-71523309	HCM	heart:	n/a
32	chr16:71523259-71523309	NT2-D1	testis:	n/a
33	chr16:71523259-71523309	HPAEpiC	pulmonary alveolar:	n/a
34	chr16:71523259-71523309	BJ	skin:	n/a
35	chr16:71523259-71523309	Jurkat	blood:	n/a
36	chr16:71523259-71523309	SK-N-SH_RA	brain:	n/a
37	chr16:71523259-71523309	HCPEpiC	choroid plexus:	n/a
38	chr16:71523259-71523309	GM12892	blood:	n/a
39	chr16:71523259-71523309	AG04450	lung:	fetal
40	chr16:71523259-71523309	HAEpiC	amniotic membrane:	n/a
41	chr16:71523259-71523309	PFSK-1	brain:	n/a
42	chr16:71523259-71523309	HMEC	breast:	n/a
43	chr16:71523259-71523309	NH-A	brain:	n/a
44	chr16:71523259-71523309	HRCEpiC	kidney:	n/a
45	chr16:71523259-71523309	U87	brain:	n/a
46	chr16:71523259-71523309	SAEC	small airway:	n/a
47	chr16:71523259-71523309	BE2_C	brain:	n/a
48	chr16:71523259-71523309	ovcar-3	ovarian:	n/a
49	chr16:71523259-71523309	MCF10A-Er-Src	breast:	n/a
50	chr16:71523259-71523309	HEK293	kidney:	embryo

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10500562	0.89[CEU][hapmap]
rs12447033	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12708914	0.88[EUR][1000 genomes]
rs12922775	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12924650	0.80[CEU][hapmap]
rs12927006	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12927456	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12927768	0.82[CEU][hapmap]
rs12931191	0.89[CEU][hapmap]
rs17280181	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17347255	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17354693	0.80[CEU][hapmap]
rs17355804	0.80[CEU][hapmap]
rs34015581	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34181942	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34380814	0.93[EUR][1000 genomes]
rs34766979	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34849731	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35394108	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35837657	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35981926	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36122765	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71403847	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71403849	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7195767	0.88[EUR][1000 genomes]
rs7203606	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8051974	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053720	0.88[CEU][hapmap]
rs8063455	0.89[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:4 , 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	chr16:71519200-71523400	Weak transcription	Right Atrium	heart
4	chr16:71523200-71523400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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