Variant report

Variant	rs4733566
Chromosome Location	chr8:131033928-131033929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:131033842-131034385	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:131033906-131034414	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131032809..131035482-chr8:131037784..131039457,2	K562	blood:
2	chr8:130983642..130985327-chr8:131033782..131036207,2	MCF-7	breast:
3	chr8:130949866..130952104-chr8:131031388..131034166,2	K562	blood:

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10505546	0.99[ASN][1000 genomes]
rs10755933	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11780495	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs12677193	0.95[JPT][hapmap]
rs12677881	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682052	0.90[ASN][1000 genomes]
rs13257060	0.99[ASN][1000 genomes]
rs13280733	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563164	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904191	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs1902014	0.97[ASN][1000 genomes]
rs1902016	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2005030	0.83[ASN][1000 genomes]
rs2085065	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2085066	0.84[ASN][1000 genomes]
rs2305513	0.95[JPT][hapmap]
rs2395974	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2395975	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2395988	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs34443587	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34596868	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62524598	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6470790	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470791	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991975	0.82[JPT][hapmap]
rs7005307	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73405532	0.95[ASN][1000 genomes]
rs7463674	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7464578	0.95[ASN][1000 genomes]
rs747498	0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs747499	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs747500	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs750677	0.82[CHB][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7820954	0.99[ASN][1000 genomes]
rs7845312	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874617	0.83[ASN][1000 genomes]
rs881421	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs897051	0.84[ASN][1000 genomes]
rs9720602	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131029400-131041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131029600-131036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:131029600-131039000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:131029800-131034000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:131029800-131034000	Weak transcription	A549	lung
8	chr8:131029800-131034600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:131030000-131034000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:131030000-131034000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:131030400-131034000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:131030600-131034000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:131032600-131034000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:131032600-131034000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:131032600-131034000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:131032600-131036200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:131032600-131036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:131032600-131041000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:131032600-131042000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131032800-131036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:131032800-131040400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:131032800-131041200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:131033200-131034200	Enhancers	K562	blood
24	chr8:131033600-131035200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:131033600-131035400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:131033800-131034000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:131033800-131035600	Enhancers	Fetal Heart	heart

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