Variant report

Variant	rs574266594
Chromosome Location	chr8:96145285-96145286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:96145228-96146493	MCF-7	breast:	n/a	chr8:96145307-96145314
2	SIN3AK20	chr8:96145240-96146481	MCF-7	breast:	n/a	n/a
3	MAX	chr8:96145208-96146329	MCF-7	breast:	n/a	chr8:96145980-96145990
4	RAD21	chr8:96145276-96146150	MCF-7	breast:	n/a	chr8:96146122-96146135
5	E2F6	chr8:96144862-96146609	H1-hESC	embryonic stem cell:	n/a	chr8:96145986-96145995 chr8:96146115-96146125 chr8:96145854-96145861
6	MXI1	chr8:96145047-96146164	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr8:96144956-96145293	H1-hESC	embryonic stem cell:	n/a	chr8:96145070-96145077
8	NR2F2	chr8:96145168-96146344	K562	blood:	n/a	n/a
9	POLR2A	chr8:96145129-96146414	Raji	blood:	n/a	n/a
10	GATA3	chr8:96145172-96146315	T-47D	breast:	n/a	chr8:96145307-96145314
11	MAX	chr8:96144902-96146379	H1-hESC	embryonic stem cell:	n/a	chr8:96145980-96145990 chr8:96145070-96145077
12	HCFC1	chr8:96145258-96147473	Hela-S3	cervix:	n/a	n/a
13	MAX	chr8:96145209-96146519	HCT-116	colon:	n/a	chr8:96145980-96145990
14	MXI1	chr8:96144930-96147518	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr8:96145262-96146037	MCF-7	breast:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
16	CBX3	chr8:96144999-96146354	K562	blood:	n/a	n/a
17	MYC	chr8:96145114-96146300	K562	blood:	n/a	chr8:96145980-96145990
18	HA-E2F1	chr8:96145143-96146398	MCF-7	breast:	n/a	chr8:96145986-96145995 chr8:96146115-96146125 chr8:96145854-96145861
19	KAP1	chr8:96145136-96145599	K562	blood:	n/a	n/a
20	MAX	chr8:96145246-96146465	A549	lung:	n/a	chr8:96145980-96145990
21	MAX	chr8:96144874-96146589	MCF-7	breast:	n/a	chr8:96145980-96145990 chr8:96145070-96145077
22	ZNF263	chr8:96144899-96146348	HEK293-T-REx	kidney:	n/a	n/a
23	MAX	chr8:96144904-96146180	H1-hESC	embryonic stem cell:	n/a	chr8:96145980-96145990 chr8:96145070-96145077
24	CEBPB	chr8:96145196-96146203	MCF-7	breast:	n/a	chr8:96145708-96145721 chr8:96145709-96145720
25	BHLHE40	chr8:96145221-96146365	K562	blood:	n/a	chr8:96146287-96146303
26	WRNIP1	chr8:96145265-96146243	GM12878	blood:	n/a	n/a
27	SIN3A	chr8:96145027-96147295	H1-hESC	embryonic stem cell:	n/a	chr8:96146118-96146129
28	POLR2A	chr8:96145064-96146615	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96145240-96145290	AG04449	skin:	fetal
2	chr8:96145240-96145290	HMEC	breast:	n/a
3	chr8:96145240-96145290	SAEC	small airway:	n/a
4	chr8:96145240-96145290	HCPEpiC	choroid plexus:	n/a
5	chr8:96145240-96145290	Caco-2	colon:	n/a
6	chr8:96145240-96145290	HIPEpiC	eye:	n/a
7	chr8:96145240-96145290	HCF	heart:	n/a
8	chr8:96145240-96145290	A549	lung:	n/a
9	chr8:96145240-96145290	HepG2	liver:	n/a
10	chr8:96145240-96145290	AG09309	skin:	n/a
11	chr8:96145240-96145290	SKMC	muscle:	n/a
12	chr8:96145240-96145290	CMK	blood:	n/a
13	chr8:96145240-96145290	BJ	skin:	n/a
14	chr8:96145240-96145290	HAEpiC	amniotic membrane:	n/a
15	chr8:96145240-96145290	GM12892	blood:	n/a
16	chr8:96145240-96145290	HRPEpiC	eye:	n/a
17	chr8:96145240-96145290	IMR90	lung:	fetal
18	chr8:96145240-96145290	T-47D	breast:	n/a
19	chr8:96145240-96145290	LNCaP	prostate:	n/a
20	chr8:96145240-96145290	PrEC	prostate:	n/a
21	chr8:96145240-96145290	AG04450	lung:	fetal
22	chr8:96145240-96145290	HUVEC	blood vessel:	n/a
23	chr8:96145240-96145290	BE2_C	brain:	n/a
24	chr8:96145240-96145290	HL-60	blood:	n/a
25	chr8:96145240-96145290	PANC-1	pancreas:	n/a
26	chr8:96145240-96145290	Hela-S3	cervix:	n/a
27	chr8:96145240-96145290	NHBE	bronchial:	n/a
28	chr8:96145240-96145290	HEK293	kidney:	embryo
29	chr8:96145240-96145290	Jurkat	blood:	n/a
30	chr8:96145240-96145290	HCT-116	colon:	n/a
31	chr8:96145240-96145290	ProgFib	skin:	n/a
32	chr8:96145240-96145290	HEEpiC	esophagus:	n/a
33	chr8:96145240-96145290	SK-N-SH_RA	brain:	n/a
34	chr8:96145240-96145290	ECC-1	luminal epithelium:	n/a
35	chr8:96145240-96145290	AoSMC	blood vessel:	n/a
36	chr8:96145240-96145290	HCM	heart:	n/a
37	chr8:96145240-96145290	MCF10A-Er-Src	breast:	n/a
38	chr8:96145240-96145290	MCF-7	breast:	n/a
39	chr8:96145240-96145290	K562	blood:	n/a
40	chr8:96145240-96145290	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:96145240-96145290	GM06990	blood:	n/a
42	chr8:96145240-96145290	H1-hESC	embryonic stem cell:	embryo
43	chr8:96145240-96145290	AG10803	skin:	n/a
44	chr8:96145240-96145290	NB4	blood:	n/a
45	chr8:96145240-96145290	HRE	kidney:	n/a
46	chr8:96145240-96145290	NT2-D1	testis:	n/a
47	chr8:96145240-96145290	GM12878	blood:	n/a
48	chr8:96145240-96145290	SK-N-MC	brain:	n/a
49	chr8:96145240-96145290	ovcar-3	ovarian:	n/a
50	chr8:96145240-96145290	SK-N-SH	brain:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
2	chr8:96064790..96067980-chr8:96145061..96147723,3	MCF-7	breast:
3	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
4	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
5	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
6	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
7	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
8	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
9	chr8:96131679..96134773-chr8:96142918..96145954,3	MCF-7	breast:
10	chr8:96107778..96115564-chr8:96144421..96149353,22	MCF-7	breast:
11	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
12	chr8:96060626..96064106-chr8:96144836..96147979,3	MCF-7	breast:
13	chr8:96085590..96087361-chr8:96143254..96146025,2	K562	blood:
14	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
15	chr8:96108471..96116302-chr8:96144708..96150629,15	MCF-7	breast:
16	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
17	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
18	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
19	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
20	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:
21	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
22	chr17:59477291..59479669-chr8:96145065..96147248,2	MCF-7	breast:
23	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
24	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHF2	TF binding region
PLEKHF2	CpG island
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000200525	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000245080	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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3371147	chr8:96145201-96147749	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96139600-96145400	Enhancers	Primary B cells from cord blood	blood
2	chr8:96140800-96145400	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:96142000-96145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:96142400-96145400	Weak transcription	NHLF	lung
5	chr8:96142800-96145400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:96143200-96145600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:96144000-96145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:96144800-96145400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr8:96145000-96145400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr8:96145000-96145400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:96145000-96145400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr8:96145000-96145400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:96145000-96145400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:96145000-96145400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:96145000-96145600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:96145000-96145600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:96145000-96145800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:96145000-96145800	Flanking Active TSS	NHEK	skin
19	chr8:96145000-96147400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:96145000-96147400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr8:96145000-96147600	Active TSS	Brain Anterior Caudate	brain
22	chr8:96145000-96147800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:96145200-96145400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:96145200-96145400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:96145200-96145400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:96145200-96145400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:96145200-96145400	Enhancers	Primary T cells from cord blood	blood
28	chr8:96145200-96145400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:96145200-96145400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:96145200-96145400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:96145200-96145400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:96145200-96145400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:96145200-96145400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:96145200-96145400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:96145200-96145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:96145200-96145400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:96145200-96145400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:96145200-96145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:96145200-96145400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:96145200-96145400	Enhancers	Esophagus	oesophagus
41	chr8:96145200-96145400	Enhancers	Fetal Brain Male	brain
42	chr8:96145200-96145400	Active TSS	Fetal Brain Female	brain
43	chr8:96145200-96145400	Enhancers	Fetal Heart	heart
44	chr8:96145200-96145400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr8:96145200-96145400	Flanking Active TSS	Placenta	Placenta
46	chr8:96145200-96145400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr8:96145200-96145400	Enhancers	Fetal Thymus	thymus
48	chr8:96145200-96145400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr8:96145200-96145400	Enhancers	Stomach Mucosa	stomach
50	chr8:96145200-96145400	Flanking Active TSS	A549	lung

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