Variant report

Variant	rs28532780
Chromosome Location	chr8:131032297-131032298
allele	C/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	E2F6	chr8:131032152-131032569	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr8:131032262-131032462	K562	blood:	n/a	n/a
3	CEBPB	chr8:131032173-131032360	H1-hESC	embryonic stem cell:	n/a	chr8:131032294-131032305 chr8:131032294-131032307 chr8:131032294-131032305
4	MAFK	chr8:131032246-131032413	HepG2	liver:	n/a	n/a
5	MAFK	chr8:131032275-131032314	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:131032247-131032484	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131031108..131033473-chr8:131036840..131039215,2	MCF-7	breast:
2	chr8:130949866..130952104-chr8:131031388..131034166,2	K562	blood:
3	chr8:131017010..131019589-chr8:131030192..131032616,2	K562	blood:
4	chr8:131028813..131030509-chr8:131031181..131032735,2	MCF-7	breast:
5	chr8:131027601..131029228-chr8:131030030..131032966,2	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10092034	0.85[AFR][1000 genomes]
rs10104510	1.00[EUR][1000 genomes]
rs10104858	1.00[EUR][1000 genomes]
rs10216656	1.00[EUR][1000 genomes]
rs16904186	1.00[EUR][1000 genomes]
rs6990503	0.85[AFR][1000 genomes]
rs7013752	1.00[EUR][1000 genomes]
rs73405561	1.00[EUR][1000 genomes]
rs73405562	1.00[EUR][1000 genomes]
rs9297803	0.85[AFR][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:38 , 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	chr8:131029600-131032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:131029600-131032400	Weak transcription	HMEC	breast
4	chr8:131029600-131033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:131029600-131036400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:131029600-131039000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:131029600-131041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:131029600-131041000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:131029800-131032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:131029800-131033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:131029800-131033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:131029800-131033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:131029800-131034000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:131029800-131034000	Weak transcription	A549	lung
15	chr8:131029800-131034600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:131030000-131034000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:131030000-131034000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:131030200-131032400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:131030400-131034000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:131030600-131034000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:131031800-131032600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr8:131031800-131032800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:131032200-131032400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr8:131032200-131032400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:131032200-131032400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:131032200-131032600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:131032200-131032600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:131032200-131032600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131032200-131032600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:131032200-131032600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr8:131032200-131032600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:131032200-131032600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:131032200-131032600	Bivalent Enhancer	Fetal Lung	lung
34	chr8:131032200-131032600	Flanking Active TSS	NHEK	skin
35	chr8:131032200-131032800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:131032200-131032800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:131032200-131032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:131032200-131032800	Enhancers	K562	blood

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