Variant report

Variant	rs17681644
Chromosome Location	chr12:21589255-21589256
allele	A/G
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:2)
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	HCFC1	chr12:21588964-21591600	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21589206-21589256	AG09309	skin:	n/a
2	chr12:21589206-21589256	A549	lung:	n/a
3	chr12:21589206-21589256	ProgFib	skin:	n/a
4	chr12:21589206-21589256	AG04450	lung:	fetal
5	chr12:21589206-21589256	GM06990	blood:	n/a
6	chr12:21589206-21589256	ovcar-3	ovarian:	n/a
7	chr12:21589206-21589256	NH-A	brain:	n/a
8	chr12:21589206-21589256	Caco-2	colon:	n/a
9	chr12:21589206-21589256	HEEpiC	esophagus:	n/a
10	chr12:21589206-21589256	H1-hESC	embryonic stem cell:	embryo
11	chr12:21589206-21589256	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:21589206-21589256	HCT-116	colon:	n/a
13	chr12:21589206-21589256	NT2-D1	testis:	n/a
14	chr12:21589206-21589256	HMEC	breast:	n/a
15	chr12:21589206-21589256	GM19239	blood:	n/a
16	chr12:21589206-21589256	SAEC	small airway:	n/a
17	chr12:21589206-21589256	AG09319	gingival:	n/a
18	chr12:21589206-21589256	HAEpiC	amniotic membrane:	n/a
19	chr12:21589206-21589256	GM12892	blood:	n/a
20	chr12:21589206-21589256	PANC-1	pancreas:	n/a
21	chr12:21589206-21589256	K562	blood:	n/a
22	chr12:21589206-21589256	HCPEpiC	choroid plexus:	n/a
23	chr12:21589206-21589256	HIPEpiC	eye:	n/a
24	chr12:21589206-21589256	ECC-1	luminal epithelium:	n/a
25	chr12:21589206-21589256	HepG2	liver:	n/a
26	chr12:21589206-21589256	HUVEC	blood vessel:	n/a
27	chr12:21589206-21589256	BJ	skin:	n/a
28	chr12:21589206-21589256	RPTEC	kidney:	n/a
29	chr12:21589206-21589256	Hepatocyte	liver:	n/a
30	chr12:21589206-21589256	IMR90	lung:	fetal
31	chr12:21589206-21589256	CMK	blood:	n/a
32	chr12:21589206-21589256	T-47D	breast:	n/a
33	chr12:21589206-21589256	HL-60	blood:	n/a
34	chr12:21589206-21589256	Jurkat	blood:	n/a
35	chr12:21589206-21589256	PrEC	prostate:	n/a
36	chr12:21589206-21589256	Hela-S3	cervix:	n/a
37	chr12:21589206-21589256	SK-N-SH	brain:	n/a
38	chr12:21589206-21589256	AoSMC	blood vessel:	n/a
39	chr12:21589206-21589256	HCM	heart:	n/a
40	chr12:21589206-21589256	U87	brain:	n/a
41	chr12:21589206-21589256	SK-N-MC	brain:	n/a
42	chr12:21589206-21589256	NHDF-neo	bronchial:	n/a
43	chr12:21589206-21589256	NHBE	bronchial:	n/a
44	chr12:21589206-21589256	HCF	heart:	n/a
45	chr12:21589206-21589256	HNPCEpiC	eye:	n/a
46	chr12:21589206-21589256	GM12878	blood:	n/a
47	chr12:21589206-21589256	GM12891	blood:	n/a
48	chr12:21589206-21589256	MCF10A-Er-Src	breast:	n/a
49	chr12:21589206-21589256	SKMC	muscle:	n/a
50	chr12:21589206-21589256	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
2	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:

No data

Variant related genes	Relation type
PYROXD1	TF binding region
PYROXD1	CpG island
ENSG00000084453	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17619980	1.00[MEX][hapmap];0.84[YRI][hapmap]
rs17682270	0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs59663289	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67104487	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67351735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133812	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304732	1.00[MEX][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs73246585	0.84[AMR][1000 genomes]
rs73249910	0.84[AMR][1000 genomes]
rs74067201	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526789	chr12:21555691-21590788	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv469163	chr12:21579080-21592357	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	nsv557742	chr12:21579080-21592357	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21581800-21590000	Weak transcription	HUVEC	blood vessel
2	chr12:21587200-21590200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:21588000-21589600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:21589200-21589400	Bivalent Enhancer	NHDF-Ad	bronchial
5	chr12:21589200-21589800	Enhancers	K562	blood

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