Variant report

Variant	rs530355956
Chromosome Location	chr8:61590368-61590369
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	FOS	chr8:61590322-61590698	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr8:61590305-61590742	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr8:61590336-61590702	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr8:61590359-61590645	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:61590247-61590591	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:61590352-61591740	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:61590345-61593431	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:61590362-61594102	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOS	chr8:61590289-61590655	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:61590322-61590613	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:61590301-61590662	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr8:61590298-61590579	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr8:61590304-61590678	MCF10A-Er-Src	breast:	n/a	n/a
14	NRF1	chr8:61590142-61591800	SK-N-SH	brain:	n/a	chr8:61591032-61591041

No.	Distal block	Cell Line	Cell type
1	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
2	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
3	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
4	chr8:61571937..61573571-chr8:61588900..61590755,2	MCF-7	breast:
5	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
6	chr8:61558670..61560650-chr8:61587707..61590411,2	K562	blood:
7	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000254869	Chromatin interaction
ENSG00000104388	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv824659	chr8:61586207-61596149	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv3327812	chr8:61590023-61592771	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 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	chr8:61586400-61590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:61586400-61590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:61588400-61590400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr8:61588800-61590400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr8:61589400-61590400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr8:61589400-61590600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:61589600-61590400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:61589600-61590600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:61590000-61590400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:61590000-61590400	Enhancers	Adipose Nuclei	Adipose
11	chr8:61590000-61590400	Enhancers	A549	lung
12	chr8:61590000-61590800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr8:61590000-61593800	Active TSS	HMEC	breast
16	chr8:61590200-61590400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr8:61590200-61590400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr8:61590200-61590400	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:61590200-61590400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:61590200-61590400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:61590200-61590400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr8:61590200-61590400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:61590200-61590400	Enhancers	Brain Angular Gyrus	brain
24	chr8:61590200-61590400	Enhancers	Brain Substantia Nigra	brain
25	chr8:61590200-61590400	Bivalent Enhancer	Fetal Lung	lung
26	chr8:61590200-61590400	Enhancers	HUVEC	blood vessel
27	chr8:61590200-61590400	Bivalent Enhancer	Osteobl	bone
28	chr8:61590200-61590600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:61590200-61590600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr8:61590200-61590600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:61590200-61590800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:61590200-61590800	Flanking Active TSS	NHEK	skin
33	chr8:61590200-61591000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr8:61590200-61593200	Active TSS	Liver	Liver
35	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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