Variant report

Variant	rs17868321
Chromosome Location	chr2:234579903-234579904
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:1)
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	CTCF	chr2:234579900-234580050	GM06990	blood:	n/a	n/a
2	BCL3	chr2:234579737-234579994	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234579873-234579923	SK-N-MC	brain:	n/a
2	chr2:234579873-234579923	Hela-S3	cervix:	n/a
3	chr2:234579873-234579923	HAEpiC	amniotic membrane:	n/a
4	chr2:234579873-234579923	H1-hESC	embryonic stem cell:	embryo
5	chr2:234579873-234579923	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:234579873-234579923	HRPEpiC	eye:	n/a
7	chr2:234579873-234579923	HIPEpiC	eye:	n/a
8	chr2:234579873-234579923	NB4	blood:	n/a
9	chr2:234579873-234579923	MCF-7	breast:	n/a
10	chr2:234579873-234579923	K562	blood:	n/a
11	chr2:234579873-234579923	HEK293	kidney:	embryo
12	chr2:234579873-234579923	BE2_C	brain:	n/a
13	chr2:234579873-234579923	AG09319	gingival:	n/a
14	chr2:234579873-234579923	ProgFib	skin:	n/a
15	chr2:234579873-234579923	HNPCEpiC	eye:	n/a
16	chr2:234579873-234579923	PANC-1	pancreas:	n/a
17	chr2:234579873-234579923	GM19239	blood:	n/a
18	chr2:234579873-234579923	AoSMC	blood vessel:	n/a
19	chr2:234579873-234579923	SK-N-SH_RA	brain:	n/a
20	chr2:234579873-234579923	HCF	heart:	n/a
21	chr2:234579873-234579923	SK-N-SH	brain:	n/a
22	chr2:234579873-234579923	BJ	skin:	n/a
23	chr2:234579873-234579923	SAEC	small airway:	n/a
24	chr2:234579873-234579923	HCT-116	colon:	n/a
25	chr2:234579873-234579923	SKMC	muscle:	n/a
26	chr2:234579873-234579923	Caco-2	colon:	n/a
27	chr2:234579873-234579923	LNCaP	prostate:	n/a
28	chr2:234579873-234579923	HEEpiC	esophagus:	n/a
29	chr2:234579873-234579923	NHDF-neo	bronchial:	n/a
30	chr2:234579873-234579923	AG04450	lung:	fetal
31	chr2:234579873-234579923	MCF10A-Er-Src	breast:	n/a
32	chr2:234579873-234579923	Jurkat	blood:	n/a
33	chr2:234579873-234579923	AG10803	skin:	n/a
34	chr2:234579873-234579923	PrEC	prostate:	n/a
35	chr2:234579873-234579923	ovcar-3	ovarian:	n/a
36	chr2:234579873-234579923	AG09309	skin:	n/a
37	chr2:234579873-234579923	ECC-1	luminal epithelium:	n/a
38	chr2:234579873-234579923	HL-60	blood:	n/a
39	chr2:234579873-234579923	NT2-D1	testis:	n/a
40	chr2:234579873-234579923	AG04449	skin:	fetal
41	chr2:234579873-234579923	HMEC	breast:	n/a
42	chr2:234579873-234579923	NH-A	brain:	n/a
43	chr2:234579873-234579923	HUVEC	blood vessel:	n/a
44	chr2:234579873-234579923	HCPEpiC	choroid plexus:	n/a
45	chr2:234579873-234579923	GM12878	blood:	n/a
46	chr2:234579873-234579923	PFSK-1	brain:	n/a
47	chr2:234579873-234579923	GM12891	blood:	n/a
48	chr2:234579873-234579923	RPTEC	kidney:	n/a
49	chr2:234579873-234579923	A549	lung:	n/a
50	chr2:234579873-234579923	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234578802..234581575-chr2:234598668..234600515,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A9	TF binding region
UGT1A9	CpG island
UGT1A8	CpG island
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17862850	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17862858	1.00[CEU][hapmap]
rs17863755	1.00[CEU][hapmap]
rs17863772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17863777	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17863783	1.00[CEU][hapmap]
rs17863786	1.00[CEU][hapmap]
rs17864687	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17868309	1.00[CEU][hapmap]
rs17868315	1.00[CEU][hapmap]
rs17868316	0.89[EUR][1000 genomes]
rs17868319	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17868327	1.00[CEU][hapmap]
rs28948068	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs28948385	1.00[CEU][hapmap]
rs28969701	1.00[CEU][hapmap]
rs7569014	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234579800-234580600	Flanking Active TSS	Liver	Liver
4	chr2:234579800-234580600	Enhancers	A549	lung

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