Variant report

Variant	rs369640942
Chromosome Location	chr8:61590196-61590197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr8:61590142-61591800	SK-N-SH	brain:	n/a	chr8:61591032-61591041

No data

(count:7 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000254869	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000104388	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:21 , 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	chr8:61589200-61590200	Enhancers	NHEK	skin
6	chr8:61589400-61590200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr8:61589400-61590200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr8:61589400-61590400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr8:61589400-61590600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:61589600-61590400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:61589600-61590600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:61590000-61590200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:61590000-61590200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr8:61590000-61590200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:61590000-61590400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:61590000-61590400	Enhancers	Adipose Nuclei	Adipose
17	chr8:61590000-61590400	Enhancers	A549	lung
18	chr8:61590000-61590800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr8:61590000-61593800	Active TSS	HMEC	breast

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