Variant report

Variant	rs574006850
Chromosome Location	chr1:85749490-85749491
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	chr1:85749293-85749596	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:85749378-85749564	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:85749188-85749508	MCF-7	breast:	n/a	chr1:85749276-85749287
5	EGR1	chr1:85749085-85749492	K562	blood:	n/a	n/a
6	POLR2A	chr1:85749311-85749601	HepG2	liver:	n/a	n/a
7	MAX	chr1:85749304-85749504	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:85748919-85749601	HCT-116	colon:	n/a	chr1:85749276-85749287
9	HEY1	chr1:85749313-85749590	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:85749269-85749906	HepG2	liver:	n/a	n/a
11	E2F4	chr1:85749346-85749546	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr1:85749434-85749590	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr1:85749356-85749629	HepG2	liver:	n/a	n/a
14	ZNF263	chr1:85749462-85750002	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr1:85749293-85749529	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000142867	Chromatin interaction
ENSG00000223653	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:38 , 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	chr1:85745800-85749600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85747000-85749600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:85747800-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:85748000-85749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:85748000-85749800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:85748000-85750000	Enhancers	NHEK	skin
13	chr1:85748400-85749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:85748800-85749600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:85748800-85750800	Enhancers	Esophagus	oesophagus
17	chr1:85749000-85749600	Enhancers	A549	lung
18	chr1:85749000-85749800	Enhancers	HMEC	breast
19	chr1:85749000-85750200	Enhancers	Stomach Mucosa	stomach
20	chr1:85749200-85749600	Enhancers	Psoas Muscle	Psoas
21	chr1:85749200-85749600	Flanking Active TSS	HepG2	liver
22	chr1:85749200-85749800	Enhancers	Colonic Mucosa	Colon
23	chr1:85749200-85749800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:85749200-85750000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:85749200-85750000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:85749200-85750000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr1:85749200-85750200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:85749400-85749600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:85749400-85749600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr1:85749400-85749600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:85749400-85749800	Enhancers	Gastric	stomach
32	chr1:85749400-85749800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr1:85749400-85749800	Enhancers	Hela-S3	cervix
34	chr1:85749400-85750000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:85749400-85750000	Enhancers	Lung	lung
36	chr1:85749400-85750000	Enhancers	Pancreas	Pancrea
37	chr1:85749400-85750200	Enhancers	Fetal Muscle Leg	muscle
38	chr1:85749400-85750400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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