Variant report

Variant	rs11904173
Chromosome Location	chr2:56216798-56216799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:56215469-56217427	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:56216271-56217024	HUVEC	blood vessel:	n/a	n/a
3	RAD21	chr2:56216578-56216848	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:56215181-56217254	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56216794-56216844	HMEC	breast:	n/a
2	chr2:56216794-56216844	HCF	heart:	n/a
3	chr2:56216794-56216844	AG04450	lung:	fetal
4	chr2:56216794-56216844	HEK293	kidney:	embryo
5	chr2:56216794-56216844	H1-hESC	embryonic stem cell:	embryo
6	chr2:56216794-56216844	IMR90	lung:	fetal
7	chr2:56216794-56216844	PrEC	prostate:	n/a
8	chr2:56216794-56216844	Hepatocyte	liver:	n/a
9	chr2:56216794-56216844	NH-A	brain:	n/a
10	chr2:56216794-56216844	NHDF-neo	bronchial:	n/a
11	chr2:56216794-56216844	AG10803	skin:	n/a
12	chr2:56216794-56216844	HUVEC	blood vessel:	n/a
13	chr2:56216794-56216844	AoSMC	blood vessel:	n/a
14	chr2:56216794-56216844	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:56216794-56216844	Caco-2	colon:	n/a
16	chr2:56216794-56216844	GM06990	blood:	n/a
17	chr2:56216794-56216844	HRCEpiC	kidney:	n/a
18	chr2:56216794-56216844	HIPEpiC	eye:	n/a
19	chr2:56216794-56216844	SKMC	muscle:	n/a
20	chr2:56216794-56216844	A549	lung:	n/a
21	chr2:56216794-56216844	HCPEpiC	choroid plexus:	n/a
22	chr2:56216794-56216844	BJ	skin:	n/a
23	chr2:56216794-56216844	T-47D	breast:	n/a
24	chr2:56216794-56216844	CMK	blood:	n/a
25	chr2:56216794-56216844	HRE	kidney:	n/a
26	chr2:56216794-56216844	ProgFib	skin:	n/a
27	chr2:56216794-56216844	K562	blood:	n/a
28	chr2:56216794-56216844	RPTEC	kidney:	n/a
29	chr2:56216794-56216844	AG09319	gingival:	n/a
30	chr2:56216794-56216844	HepG2	liver:	n/a
31	chr2:56216794-56216844	HCT-116	colon:	n/a
32	chr2:56216794-56216844	MCF10A-Er-Src	breast:	n/a
33	chr2:56216794-56216844	SAEC	small airway:	n/a
34	chr2:56216794-56216844	PFSK-1	brain:	n/a
35	chr2:56216794-56216844	NB4	blood:	n/a
36	chr2:56216794-56216844	ovcar-3	ovarian:	n/a
37	chr2:56216794-56216844	GM12878	blood:	n/a
38	chr2:56216794-56216844	HEEpiC	esophagus:	n/a
39	chr2:56216794-56216844	ECC-1	luminal epithelium:	n/a
40	chr2:56216794-56216844	AG09309	skin:	n/a
41	chr2:56216794-56216844	MCF-7	breast:	n/a
42	chr2:56216794-56216844	HAEpiC	amniotic membrane:	n/a
43	chr2:56216794-56216844	HRPEpiC	eye:	n/a
44	chr2:56216794-56216844	HCM	heart:	n/a
45	chr2:56216794-56216844	NHBE	bronchial:	n/a
46	chr2:56216794-56216844	BE2_C	brain:	n/a
47	chr2:56216794-56216844	HL-60	blood:	n/a
48	chr2:56216794-56216844	Hela-S3	cervix:	n/a
49	chr2:56216794-56216844	HNPCEpiC	eye:	n/a
50	chr2:56216794-56216844	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55920582..55922485-chr2:56215430..56218121,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-1	chr2:56216612-56216843	NONHSAT070812

No data

Variant related genes	Relation type
MIR216A	TF binding region
MIR216A	CpG island
ENSG00000138035	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1017371	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194204	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10194401	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10200414	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10206522	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10206619	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11690813	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11891825	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713312	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13029542	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13398053	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13410155	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13431392	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13432828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1432553	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1835897	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2009613	1.00[ASN][1000 genomes]
rs34561537	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4999828	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545535	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545536	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545537	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545538	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724635	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6724872	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6745615	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6756818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7557630	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7601814	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56214000-56217800	Weak transcription	Aorta	Aorta
2	chr2:56214600-56218000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:56214600-56218000	Weak transcription	HSMMtube	muscle
4	chr2:56214600-56218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:56214600-56218400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:56214600-56218800	Weak transcription	Osteobl	bone
7	chr2:56214600-56219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:56216200-56217200	Strong transcription	Pancreas	Pancrea
9	chr2:56216200-56218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56216600-56217000	Flanking Active TSS	HUVEC	blood vessel

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