Variant report

Variant	rs577574240
Chromosome Location	chr3:142681560-142681561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:142681424-142681971	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr3:142681488-142681662	K562	blood:	n/a	n/a
3	SETDB1	chr3:142680934-142682173	K562	blood:	n/a	n/a
4	MAX	chr3:142681242-142682221	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF2	chr3:142681442-142681636	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:142681486-142682063	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr3:142681543-142681857	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr3:142681102-142682892	H1-hESC	embryonic stem cell:	n/a	chr3:142682194-142682208 chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
9	MAX	chr3:142681255-142682199	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr3:142681257-142683103	A549	lung:	n/a	chr3:142682825-142682834
11	POLR2A	chr3:142681425-142681981	MCF-7	breast:	n/a	n/a
12	MYC	chr3:142681498-142681596	MCF-7	breast:	n/a	n/a
13	E2F6	chr3:142681208-142682147	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:142681419-142681954	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142681516-142681566	GM06990	blood:	n/a
2	chr3:142681516-142681566	GM12892	blood:	n/a
3	chr3:142681516-142681566	ovcar-3	ovarian:	n/a
4	chr3:142681516-142681566	GM19239	blood:	n/a
5	chr3:142681516-142681566	HIPEpiC	eye:	n/a
6	chr3:142681516-142681566	HL-60	blood:	n/a
7	chr3:142681516-142681566	IMR90	lung:	fetal
8	chr3:142681516-142681566	SK-N-SH_RA	brain:	n/a
9	chr3:142681516-142681566	NHDF-neo	bronchial:	n/a
10	chr3:142681516-142681566	T-47D	breast:	n/a
11	chr3:142681516-142681566	HUVEC	blood vessel:	n/a
12	chr3:142681516-142681566	Hela-S3	cervix:	n/a
13	chr3:142681516-142681566	SKMC	muscle:	n/a
14	chr3:142681516-142681566	U87	brain:	n/a
15	chr3:142681516-142681566	AG09309	skin:	n/a
16	chr3:142681516-142681566	GM12891	blood:	n/a
17	chr3:142681516-142681566	HEEpiC	esophagus:	n/a
18	chr3:142681516-142681566	Hepatocyte	liver:	n/a
19	chr3:142681516-142681566	HNPCEpiC	eye:	n/a
20	chr3:142681516-142681566	HCT-116	colon:	n/a
21	chr3:142681516-142681566	HAEpiC	amniotic membrane:	n/a
22	chr3:142681516-142681566	ProgFib	skin:	n/a
23	chr3:142681516-142681566	AG04450	lung:	fetal
24	chr3:142681516-142681566	HCPEpiC	choroid plexus:	n/a
25	chr3:142681516-142681566	PANC-1	pancreas:	n/a
26	chr3:142681516-142681566	HRPEpiC	eye:	n/a
27	chr3:142681516-142681566	LNCaP	prostate:	n/a
28	chr3:142681516-142681566	AG10803	skin:	n/a
29	chr3:142681516-142681566	MCF-7	breast:	n/a
30	chr3:142681516-142681566	PFSK-1	brain:	n/a
31	chr3:142681516-142681566	GM12878	blood:	n/a
32	chr3:142681516-142681566	PrEC	prostate:	n/a
33	chr3:142681516-142681566	HMEC	breast:	n/a
34	chr3:142681516-142681566	HRE	kidney:	n/a
35	chr3:142681516-142681566	SK-N-SH	brain:	n/a
36	chr3:142681516-142681566	HepG2	liver:	n/a
37	chr3:142681516-142681566	NHBE	bronchial:	n/a
38	chr3:142681516-142681566	BE2_C	brain:	n/a
39	chr3:142681516-142681566	AG09319	gingival:	n/a
40	chr3:142681516-142681566	HPAEpiC	pulmonary alveolar:	n/a
41	chr3:142681516-142681566	Caco-2	colon:	n/a
42	chr3:142681516-142681566	K562	blood:	n/a
43	chr3:142681516-142681566	CMK	blood:	n/a
44	chr3:142681516-142681566	NB4	blood:	n/a
45	chr3:142681516-142681566	SK-N-MC	brain:	n/a
46	chr3:142681516-142681566	A549	lung:	n/a
47	chr3:142681516-142681566	RPTEC	kidney:	n/a
48	chr3:142681516-142681566	MCF10A-Er-Src	breast:	n/a
49	chr3:142681516-142681566	HCF	heart:	n/a
50	chr3:142681516-142681566	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142296891..142299259-chr3:142680803..142682548,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241570	TF binding region
PAQR9	TF binding region
U2SURP	TF binding region
ENSG00000241570	CpG island
U2SURP	CpG island
PAQR9	CpG island
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3443662	chr3:142681287-142684135	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3388028	chr3:142681537-142683935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr3:142676200-142681600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142679400-142682000	Flanking Active TSS	Liver	Liver
3	chr3:142679800-142681800	Weak transcription	K562	blood
4	chr3:142680600-142682000	Flanking Active TSS	HepG2	liver
5	chr3:142681000-142681600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr3:142681000-142682000	ZNF genes & repeats	Pancreas	Pancrea
7	chr3:142681000-142683600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:142681200-142681600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:142681200-142682000	Flanking Active TSS	Right Ventricle	heart
10	chr3:142681200-142682200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:142681400-142681600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr3:142681400-142681600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:142681400-142681600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:142681400-142681600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:142681400-142681600	Enhancers	Gastric	stomach
16	chr3:142681400-142681600	Active TSS	A549	lung
17	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:142681400-142681800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:142681400-142681800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:142681400-142681800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
22	chr3:142681400-142681800	Genic enhancers	Right Atrium	heart
23	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:142681400-142682000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr3:142681400-142682000	Bivalent Enhancer	Spleen	Spleen
28	chr3:142681400-142682200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:142681400-142683600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:142681400-142683600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:142681400-142683600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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