Variant report

Variant	rs11887974
Chromosome Location	chr2:178970575-178970576
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: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	TAL1	chr2:178970416-178970677	K562	blood:	n/a	chr2:178970515-178970533

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178970574-178970624	SK-N-MC	brain:	n/a
2	chr2:178970574-178970624	HepG2	liver:	n/a
3	chr2:178970574-178970624	AG04450	lung:	fetal
4	chr2:178970574-178970624	MCF10A-Er-Src	breast:	n/a
5	chr2:178970574-178970624	MCF-7	breast:	n/a
6	chr2:178970574-178970624	AG10803	skin:	n/a
7	chr2:178970574-178970624	CMK	blood:	n/a
8	chr2:178970574-178970624	AG04449	skin:	fetal
9	chr2:178970574-178970624	BE2_C	brain:	n/a
10	chr2:178970574-178970624	HCM	heart:	n/a
11	chr2:178970574-178970624	HCPEpiC	choroid plexus:	n/a
12	chr2:178970574-178970624	HNPCEpiC	eye:	n/a
13	chr2:178970574-178970624	PANC-1	pancreas:	n/a
14	chr2:178970574-178970624	Hela-S3	cervix:	n/a
15	chr2:178970574-178970624	SAEC	small airway:	n/a
16	chr2:178970574-178970624	ovcar-3	ovarian:	n/a
17	chr2:178970574-178970624	Jurkat	blood:	n/a
18	chr2:178970574-178970624	K562	blood:	n/a
19	chr2:178970574-178970624	HUVEC	blood vessel:	n/a
20	chr2:178970574-178970624	H1-hESC	embryonic stem cell:	embryo
21	chr2:178970574-178970624	GM12891	blood:	n/a
22	chr2:178970574-178970624	SK-N-SH	brain:	n/a
23	chr2:178970574-178970624	A549	lung:	n/a
24	chr2:178970574-178970624	NHBE	bronchial:	n/a
25	chr2:178970574-178970624	HRE	kidney:	n/a
26	chr2:178970574-178970624	U87	brain:	n/a
27	chr2:178970574-178970624	AG09309	skin:	n/a
28	chr2:178970574-178970624	GM06990	blood:	n/a
29	chr2:178970574-178970624	HMEC	breast:	n/a
30	chr2:178970574-178970624	GM19239	blood:	n/a
31	chr2:178970574-178970624	Caco-2	colon:	n/a
32	chr2:178970574-178970624	PrEC	prostate:	n/a
33	chr2:178970574-178970624	SK-N-SH_RA	brain:	n/a
34	chr2:178970574-178970624	HRCEpiC	kidney:	n/a
35	chr2:178970574-178970624	NB4	blood:	n/a
36	chr2:178970574-178970624	PFSK-1	brain:	n/a
37	chr2:178970574-178970624	HCT-116	colon:	n/a
38	chr2:178970574-178970624	BJ	skin:	n/a
39	chr2:178970574-178970624	SKMC	muscle:	n/a
40	chr2:178970574-178970624	HEK293	kidney:	embryo
41	chr2:178970574-178970624	AG09319	gingival:	n/a
42	chr2:178970574-178970624	ECC-1	luminal epithelium:	n/a
43	chr2:178970574-178970624	GM12878	blood:	n/a
44	chr2:178970574-178970624	HCF	heart:	n/a
45	chr2:178970574-178970624	GM12892	blood:	n/a
46	chr2:178970574-178970624	AoSMC	blood vessel:	n/a
47	chr2:178970574-178970624	ProgFib	skin:	n/a
48	chr2:178970574-178970624	T-47D	breast:	n/a
49	chr2:178970574-178970624	IMR90	lung:	fetal
50	chr2:178970574-178970624	NH-A	brain:	n/a

No data

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

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10176475	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198111	0.88[CHB][hapmap]
rs10432485	0.89[JPT][hapmap]
rs11674668	0.83[CHB][hapmap]
rs11886139	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11899905	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408924	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1347441	0.89[CHB][hapmap]
rs1369515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1369517	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1435571	0.94[JPT][hapmap]
rs2034255	0.93[ASN][1000 genomes]
rs2043547	0.83[CHB][hapmap]
rs2163647	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2217838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4300869	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs56103916	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6433709	0.88[CHB][hapmap]
rs6709256	0.83[CHB][hapmap]
rs6709343	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710329	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6714047	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738461	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6740828	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6754705	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs736842	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7583491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7608073	0.83[CHB][hapmap]
rs9288014	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178970400-178970600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:178970400-178970600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:178970400-178971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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