Variant report

Variant	rs3811046
Chromosome Location	chr2:113671378-113671379
allele	G/T
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:0)
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	POLR2A	chr2:113671251-113671559	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113671356-113671406	MCF-7	breast:	n/a
2	chr2:113671356-113671406	HCPEpiC	choroid plexus:	n/a
3	chr2:113671356-113671406	HAEpiC	amniotic membrane:	n/a
4	chr2:113671356-113671406	CMK	blood:	n/a
5	chr2:113671356-113671406	NT2-D1	testis:	n/a
6	chr2:113671356-113671406	GM12891	blood:	n/a
7	chr2:113671356-113671406	GM06990	blood:	n/a
8	chr2:113671356-113671406	K562	blood:	n/a
9	chr2:113671356-113671406	Caco-2	colon:	n/a
10	chr2:113671356-113671406	SKMC	muscle:	n/a
11	chr2:113671356-113671406	HCF	heart:	n/a
12	chr2:113671356-113671406	NB4	blood:	n/a
13	chr2:113671356-113671406	HL-60	blood:	n/a
14	chr2:113671356-113671406	HMEC	breast:	n/a
15	chr2:113671356-113671406	BJ	skin:	n/a
16	chr2:113671356-113671406	PANC-1	pancreas:	n/a
17	chr2:113671356-113671406	BE2_C	brain:	n/a
18	chr2:113671356-113671406	HEEpiC	esophagus:	n/a
19	chr2:113671356-113671406	Hepatocyte	liver:	n/a
20	chr2:113671356-113671406	ECC-1	luminal epithelium:	n/a
21	chr2:113671356-113671406	HepG2	liver:	n/a
22	chr2:113671356-113671406	GM12892	blood:	n/a
23	chr2:113671356-113671406	A549	lung:	n/a
24	chr2:113671356-113671406	SK-N-SH_RA	brain:	n/a
25	chr2:113671356-113671406	GM12878	blood:	n/a
26	chr2:113671356-113671406	HRCEpiC	kidney:	n/a
27	chr2:113671356-113671406	U87	brain:	n/a
28	chr2:113671356-113671406	AG09319	gingival:	n/a
29	chr2:113671356-113671406	AoSMC	blood vessel:	n/a
30	chr2:113671356-113671406	IMR90	lung:	fetal
31	chr2:113671356-113671406	ProgFib	skin:	n/a
32	chr2:113671356-113671406	NH-A	brain:	n/a
33	chr2:113671356-113671406	GM19239	blood:	n/a
34	chr2:113671356-113671406	AG10803	skin:	n/a
35	chr2:113671356-113671406	T-47D	breast:	n/a
36	chr2:113671356-113671406	RPTEC	kidney:	n/a
37	chr2:113671356-113671406	HIPEpiC	eye:	n/a
38	chr2:113671356-113671406	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:113671356-113671406	Hela-S3	cervix:	n/a
40	chr2:113671356-113671406	HUVEC	blood vessel:	n/a
41	chr2:113671356-113671406	SAEC	small airway:	n/a
42	chr2:113671356-113671406	AG04450	lung:	fetal
43	chr2:113671356-113671406	AG09309	skin:	n/a
44	chr2:113671356-113671406	PrEC	prostate:	n/a
45	chr2:113671356-113671406	HRE	kidney:	n/a
46	chr2:113671356-113671406	NHBE	bronchial:	n/a
47	chr2:113671356-113671406	HCM	heart:	n/a
48	chr2:113671356-113671406	SK-N-SH	brain:	n/a
49	chr2:113671356-113671406	AG04449	skin:	fetal
50	chr2:113671356-113671406	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
IL37	TF binding region
IL37	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11676778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708925	0.87[CHD][hapmap]
rs2708933	0.85[EUR][1000 genomes]
rs2723154	0.85[ASN][1000 genomes]
rs2723176	0.87[CHD][hapmap]
rs2723186	0.87[CHD][hapmap]
rs2723196	0.87[CHD][hapmap]
rs3811045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811047	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074747	0.86[CHB][hapmap]
rs4241122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6717710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564181	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961338	chr2:113657963-113691422	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003372	chr2:113670890-113682621	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3811046	EDAR	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113664800-113678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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