Variant report

Variant	rs546692151
Chromosome Location	chr1:85749675-85749676
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	CEBPB	chr1:85749110-85749721	HepG2	liver:	n/a	chr1:85749276-85749287
2	POLR2A	chr1:85749269-85749906	HepG2	liver:	n/a	n/a
3	ZNF263	chr1:85749462-85750002	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
2	chr1:85742187..85745018-chr1:85749555..85753087,3	K562	blood:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3450265	chr1:85747914-85749962	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	esv2574928	chr1:85748263-85749909	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	esv1008164	chr1:85748448-85749693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:85748000-85750000	Enhancers	NHEK	skin
10	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:85748800-85750800	Enhancers	Esophagus	oesophagus
12	chr1:85749000-85749800	Enhancers	HMEC	breast
13	chr1:85749000-85750200	Enhancers	Stomach Mucosa	stomach
14	chr1:85749200-85749800	Enhancers	Colonic Mucosa	Colon
15	chr1:85749200-85749800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:85749200-85750000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:85749200-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:85749200-85750000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:85749200-85750200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:85749400-85749800	Enhancers	Gastric	stomach
21	chr1:85749400-85749800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:85749400-85749800	Enhancers	Hela-S3	cervix
23	chr1:85749400-85750000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:85749400-85750000	Enhancers	Lung	lung
25	chr1:85749400-85750000	Enhancers	Pancreas	Pancrea
26	chr1:85749400-85750200	Enhancers	Fetal Muscle Leg	muscle
27	chr1:85749400-85750400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85749600-85749800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:85749600-85749800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:85749600-85750000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:85749600-85750000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:85749600-85750000	Active TSS	HepG2	liver
33	chr1:85749600-85755000	Weak transcription	A549	lung

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