Variant report

Variant	rs4481157
Chromosome Location	chr3:133464684-133464685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:133464565-133465451	HepG2	liver:	n/a	chr3:133464712-133464731 chr3:133464721-133464730
2	HDAC2	chr3:133464580-133465490	HepG2	liver:	n/a	n/a
3	CTCF	chr3:133464632-133464787	HepG2	liver:	n/a	chr3:133464656-133464669 chr3:133464720-133464729
4	NFIC	chr3:133464671-133465951	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:133464533-133466088	HepG2	liver:	n/a	n/a
6	RCOR1	chr3:133464618-133465468	HepG2	liver:	n/a	n/a
7	CTCF	chr3:133464660-133464810	HepG2	liver:	n/a	chr3:133464720-133464729
8	HEY1	chr3:133464668-133467472	HepG2	liver:	n/a	chr3:133465389-133465404
9	RAD21	chr3:133464521-133465486	HepG2	liver:	n/a	chr3:133464712-133464731 chr3:133464721-133464730
10	MAFK	chr3:133464074-133464731	HepG2	liver:	n/a	n/a
11	SMC3	chr3:133464615-133465322	HepG2	liver:	n/a	chr3:133464900-133464907
12	MYBL2	chr3:133464363-133465626	HepG2	liver:	n/a	n/a
13	MYBL2	chr3:133464479-133466127	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:133464423-133479250	HepG2	liver:	n/a	n/a
15	MAFK	chr3:133464099-133465339	HepG2	liver:	n/a	n/a
16	MXI1	chr3:133464497-133466063	HepG2	liver:	n/a	n/a
17	CTCF	chr3:133464620-133464770	HepG2	liver:	n/a	chr3:133464656-133464669 chr3:133464720-133464729
18	HEY1	chr3:133464270-133467811	HepG2	liver:	n/a	chr3:133465389-133465404
19	POLR2A	chr3:133464411-133467827	HepG2	liver:	n/a	n/a
20	YY1	chr3:133464576-133465519	HepG2	liver:	n/a	n/a
21	POLR2A	chr3:133464654-133465451	HepG2	liver:	n/a	n/a
22	RAD21	chr3:133464419-133465474	HepG2	liver:	n/a	chr3:133464712-133464731 chr3:133464721-133464730
23	MBD4	chr3:133464603-133466405	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133464651-133464701	GM12892	blood:	n/a
2	chr3:133464651-133464701	K562	blood:	n/a
3	chr3:133464651-133464701	SAEC	small airway:	n/a
4	chr3:133464651-133464701	AG04449	skin:	fetal
5	chr3:133464651-133464701	HRCEpiC	kidney:	n/a
6	chr3:133464651-133464701	AoSMC	blood vessel:	n/a
7	chr3:133464651-133464701	BJ	skin:	n/a
8	chr3:133464651-133464701	HRPEpiC	eye:	n/a
9	chr3:133464651-133464701	IMR90	lung:	fetal
10	chr3:133464651-133464701	NT2-D1	testis:	n/a
11	chr3:133464651-133464701	ProgFib	skin:	n/a
12	chr3:133464651-133464701	A549	lung:	n/a
13	chr3:133464651-133464701	AG10803	skin:	n/a
14	chr3:133464651-133464701	H1-hESC	embryonic stem cell:	embryo
15	chr3:133464651-133464701	NHBE	bronchial:	n/a
16	chr3:133464651-133464701	SK-N-SH_RA	brain:	n/a
17	chr3:133464651-133464701	ECC-1	luminal epithelium:	n/a
18	chr3:133464651-133464701	HNPCEpiC	eye:	n/a
19	chr3:133464651-133464701	HEEpiC	esophagus:	n/a
20	chr3:133464651-133464701	HAEpiC	amniotic membrane:	n/a
21	chr3:133464651-133464701	HEK293	kidney:	embryo
22	chr3:133464651-133464701	HCM	heart:	n/a
23	chr3:133464651-133464701	Hela-S3	cervix:	n/a
24	chr3:133464651-133464701	GM12891	blood:	n/a
25	chr3:133464651-133464701	Jurkat	blood:	n/a
26	chr3:133464651-133464701	MCF-7	breast:	n/a
27	chr3:133464651-133464701	SK-N-MC	brain:	n/a
28	chr3:133464651-133464701	NH-A	brain:	n/a
29	chr3:133464651-133464701	PFSK-1	brain:	n/a
30	chr3:133464651-133464701	HCF	heart:	n/a
31	chr3:133464651-133464701	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:133464651-133464701	AG04450	lung:	fetal
33	chr3:133464651-133464701	SKMC	muscle:	n/a
34	chr3:133464651-133464701	NHDF-neo	bronchial:	n/a
35	chr3:133464651-133464701	BE2_C	brain:	n/a
36	chr3:133464651-133464701	SK-N-SH	brain:	n/a
37	chr3:133464651-133464701	MCF10A-Er-Src	breast:	n/a
38	chr3:133464651-133464701	Caco-2	colon:	n/a
39	chr3:133464651-133464701	HepG2	liver:	n/a
40	chr3:133464651-133464701	AG09309	skin:	n/a
41	chr3:133464651-133464701	T-47D	breast:	n/a
42	chr3:133464651-133464701	CMK	blood:	n/a
43	chr3:133464651-133464701	GM19239	blood:	n/a
44	chr3:133464651-133464701	NB4	blood:	n/a
45	chr3:133464651-133464701	HRE	kidney:	n/a
46	chr3:133464651-133464701	RPTEC	kidney:	n/a
47	chr3:133464651-133464701	HUVEC	blood vessel:	n/a
48	chr3:133464651-133464701	HMEC	breast:	n/a
49	chr3:133464651-133464701	U87	brain:	n/a
50	chr3:133464651-133464701	ovcar-3	ovarian:	n/a

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10433417	0.97[ASN][1000 genomes]
rs10935073	0.80[ASN][1000 genomes]
rs11921527	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12493887	0.97[ASN][1000 genomes]
rs12639304	0.97[ASN][1000 genomes]
rs4241357	0.88[CEU][hapmap]
rs4355280	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4459901	0.87[CEU][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4525863	0.80[ASN][1000 genomes]
rs6439431	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6439435	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6774822	0.94[ASN][1000 genomes]
rs6775042	0.97[ASN][1000 genomes]
rs6777860	0.94[ASN][1000 genomes]
rs6780650	0.97[ASN][1000 genomes]
rs6782523	0.80[ASN][1000 genomes]
rs6787177	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6790668	0.91[ASN][1000 genomes]
rs6798547	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7646118	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8177177	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177178	0.88[CEU][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs8177197	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs8177224	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs9829019	0.98[ASN][1000 genomes]
rs9831392	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9869257	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9869535	0.88[AFR][1000 genomes];1.00[ASN][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4481157	PCCB	cis	cerebellum	SCAN
rs4481157	SRPRB	cis	parietal	SCAN
rs4481157	TOPBP1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133463400-133465200	Flanking Active TSS	Liver	Liver
2	chr3:133463600-133465200	Weak transcription	Spleen	Spleen
3	chr3:133464400-133464800	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr3:133464400-133464800	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr3:133464400-133464800	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr3:133464400-133464800	Flanking Active TSS	Brain Substantia Nigra	brain
7	chr3:133464400-133465800	Enhancers	Pancreas	Pancrea
8	chr3:133464400-133466400	Weak transcription	K562	blood
9	chr3:133464600-133464800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr3:133464600-133464800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr3:133464600-133464800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:133464600-133464800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:133464600-133464800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:133464600-133464800	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr3:133464600-133464800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr3:133464600-133464800	Flanking Active TSS	Fetal Brain Female	brain
17	chr3:133464600-133464800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:133464600-133464800	Bivalent/Poised TSS	Right Ventricle	heart
19	chr3:133464600-133464800	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr3:133464600-133465000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr3:133464600-133465000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:133464600-133465000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:133464600-133465000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:133464600-133465000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:133464600-133465000	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr3:133464600-133465200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr3:133464600-133465200	Bivalent Enhancer	Fetal Lung	lung
28	chr3:133464600-133465400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:133464600-133465600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:133464600-133465600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr3:133464600-133465800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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