Variant report

Variant	rs16867472
Chromosome Location	chr2:182559346-182559347
allele	A/G
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:0)
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	chr2:182559318-182559368	T-47D	breast:	n/a
2	chr2:182559318-182559368	U87	brain:	n/a
3	chr2:182559318-182559368	HL-60	blood:	n/a
4	chr2:182559318-182559368	NB4	blood:	n/a
5	chr2:182559318-182559368	BE2_C	brain:	n/a
6	chr2:182559318-182559368	Hela-S3	cervix:	n/a
7	chr2:182559318-182559368	A549	lung:	n/a
8	chr2:182559318-182559368	HUVEC	blood vessel:	n/a
9	chr2:182559318-182559368	H1-hESC	embryonic stem cell:	embryo
10	chr2:182559318-182559368	CMK	blood:	n/a
11	chr2:182559318-182559368	GM12878	blood:	n/a
12	chr2:182559318-182559368	SKMC	muscle:	n/a
13	chr2:182559318-182559368	SAEC	small airway:	n/a
14	chr2:182559318-182559368	SK-N-MC	brain:	n/a
15	chr2:182559318-182559368	HRPEpiC	eye:	n/a
16	chr2:182559318-182559368	HEEpiC	esophagus:	n/a
17	chr2:182559318-182559368	NHBE	bronchial:	n/a
18	chr2:182559318-182559368	Jurkat	blood:	n/a
19	chr2:182559318-182559368	AG04450	lung:	fetal
20	chr2:182559318-182559368	RPTEC	kidney:	n/a
21	chr2:182559318-182559368	HAEpiC	amniotic membrane:	n/a
22	chr2:182559318-182559368	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:182559318-182559368	HCM	heart:	n/a
24	chr2:182559318-182559368	AG09319	gingival:	n/a
25	chr2:182559318-182559368	Caco-2	colon:	n/a
26	chr2:182559318-182559368	HepG2	liver:	n/a
27	chr2:182559318-182559368	HRCEpiC	kidney:	n/a
28	chr2:182559318-182559368	AG04449	skin:	fetal
29	chr2:182559318-182559368	PrEC	prostate:	n/a
30	chr2:182559318-182559368	HMEC	breast:	n/a
31	chr2:182559318-182559368	HRE	kidney:	n/a
32	chr2:182559318-182559368	MCF-7	breast:	n/a
33	chr2:182559318-182559368	LNCaP	prostate:	n/a
34	chr2:182559318-182559368	GM12891	blood:	n/a
35	chr2:182559318-182559368	AG09309	skin:	n/a
36	chr2:182559318-182559368	PANC-1	pancreas:	n/a
37	chr2:182559318-182559368	IMR90	lung:	fetal
38	chr2:182559318-182559368	SK-N-SH	brain:	n/a
39	chr2:182559318-182559368	HNPCEpiC	eye:	n/a
40	chr2:182559318-182559368	GM12892	blood:	n/a
41	chr2:182559318-182559368	AoSMC	blood vessel:	n/a
42	chr2:182559318-182559368	MCF10A-Er-Src	breast:	n/a
43	chr2:182559318-182559368	ovcar-3	ovarian:	n/a
44	chr2:182559318-182559368	ECC-1	luminal epithelium:	n/a
45	chr2:182559318-182559368	K562	blood:	n/a
46	chr2:182559318-182559368	GM06990	blood:	n/a
47	chr2:182559318-182559368	ProgFib	skin:	n/a
48	chr2:182559318-182559368	HCT-116	colon:	n/a
49	chr2:182559318-182559368	HCF	heart:	n/a
50	chr2:182559318-182559368	BJ	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000225570	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16841649	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs16867467	1.00[YRI][hapmap]
rs16867469	1.00[AFR][1000 genomes]
rs16867474	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182558800-182559400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:182559200-182559400	Bivalent Enhancer	Fetal Brain Male	brain

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