Variant report

Variant	rs747500
Chromosome Location	chr8:131029622-131029623
allele	A/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	CTBP2	chr8:131028567-131029709	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:131027388-131029702	GM19099	blood:	n/a	n/a
3	REST	chr8:131027304-131029903	H1-neurons	neurons:	n/a	chr8:131028523-131028533 chr8:131028841-131028848 chr8:131028909-131028922 chr8:131028494-131028507 chr8:131029329-131029342
4	TCF7L2	chr8:131029570-131029918	PANC-1	pancreas:	n/a	chr8:131029866-131029876 chr8:131029864-131029880 chr8:131029864-131029880 chr8:131029867-131029876 chr8:131029868-131029877 chr8:131029865-131029879
5	CTCF	chr8:131026797-131029839	SK-N-SH	brain:	n/a	chr8:131027593-131027611 chr8:131027594-131027610 chr8:131028532-131028545 chr8:131027595-131027608 chr8:131027588-131027609 chr8:131028125-131028133
6	POLR2A	chr8:131028640-131029850	K562	blood:	n/a	n/a
7	MAX	chr8:131026898-131029641	A549	lung:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285

No.	Distal block	Cell Line	Cell type
1	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:
2	chr8:130950488..130952013-chr8:131029373..131031137,2	K562	blood:
3	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
4	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
5	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000264653	Chromatin interaction
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10505546	0.85[ASN][1000 genomes]
rs10755933	0.85[ASN][1000 genomes]
rs11780495	0.84[ASN][1000 genomes]
rs12677881	0.85[ASN][1000 genomes]
rs13257060	0.85[ASN][1000 genomes]
rs13280733	0.83[ASN][1000 genomes]
rs16904191	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902014	0.83[ASN][1000 genomes]
rs1902016	0.85[ASN][1000 genomes]
rs2005030	0.99[ASN][1000 genomes]
rs2085065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085066	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2395975	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2395988	0.81[ASN][1000 genomes]
rs34443587	0.85[ASN][1000 genomes]
rs34596868	0.83[ASN][1000 genomes]
rs4733566	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62524598	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470790	0.85[ASN][1000 genomes]
rs6470791	0.85[ASN][1000 genomes]
rs7005307	0.85[ASN][1000 genomes]
rs73405532	0.81[ASN][1000 genomes]
rs7463674	0.85[ASN][1000 genomes]
rs7464578	0.81[ASN][1000 genomes]
rs747498	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747499	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs750677	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820954	0.85[ASN][1000 genomes]
rs7845312	0.84[ASN][1000 genomes]
rs874617	0.99[ASN][1000 genomes]
rs881421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9720602	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv3358282	chr8:131027595-131030143	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3389294	chr8:131027670-131029918	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131028200-131030000	Active TSS	Primary hematopoietic stem cells	blood
2	chr8:131029000-131029800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:131029000-131030000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr8:131029000-131030000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:131029200-131029800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr8:131029200-131029800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:131029200-131032200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131029400-131029800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131029400-131029800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr8:131029400-131029800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:131029400-131029800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:131029400-131029800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:131029400-131030200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:131029400-131032200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:131029400-131032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131029400-131032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131029400-131041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:131029600-131029800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:131029600-131029800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr8:131029600-131029800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr8:131029600-131029800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr8:131029600-131029800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr8:131029600-131029800	Active TSS	Primary B cells from cord blood	blood
24	chr8:131029600-131029800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:131029600-131029800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:131029600-131029800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:131029600-131029800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:131029600-131029800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:131029600-131029800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:131029600-131029800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:131029600-131029800	Enhancers	A549	lung
32	chr8:131029600-131029800	Enhancers	Hela-S3	cervix
33	chr8:131029600-131029800	Bivalent Enhancer	HepG2	liver
34	chr8:131029600-131029800	Enhancers	K562	blood
35	chr8:131029600-131029800	Enhancers	NHEK	skin
36	chr8:131029600-131030000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:131029600-131030400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:131029600-131030400	Enhancers	Fetal Thymus	thymus
39	chr8:131029600-131030600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:131029600-131030600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:131029600-131032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:131029600-131032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:131029600-131032400	Weak transcription	HMEC	breast
44	chr8:131029600-131033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:131029600-131036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:131029600-131039000	Weak transcription	Brain Anterior Caudate	brain
47	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell

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