Variant report

Variant	nsv593635
Chromosome Location	chr4:8271452-8271983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:184)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr4:8271379-8271648	A549	lung:	n/a	n/a
2	CTBP2	chr4:8271453-8272043	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr4:8271676-8271729	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:8271800-8271950	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr4:8271920-8272070	HVMF	connective:	n/a	n/a
6	E2F6	chr4:8271303-8272073	H1-hESC	embryonic stem cell:	n/a	chr4:8271452-8271459
7	GABPA	chr4:8271346-8272113	H1-hESC	embryonic stem cell:	n/a	chr4:8271466-8271475
8	GABPA	chr4:8271367-8272105	H1-hESC	embryonic stem cell:	n/a	chr4:8271466-8271475
9	HDAC2	chr4:8271336-8271621	HepG2	liver:	n/a	n/a
10	HEY1	chr4:8271384-8271611	HepG2	liver:	n/a	chr4:8271534-8271549
11	JUND	chr4:8271656-8271928	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr4:8271406-8272137	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr4:8271407-8272084	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr4:8271371-8272136	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr4:8271229-8272186	NB4	blood:	n/a	n/a
16	MAZ	chr4:8271084-8272147	IMR90	lung:	n/a	n/a
17	MYC	chr4:8271845-8272041	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr4:8271818-8271920	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr4:8271131-8272169	NB4	blood:	n/a	n/a
20	POLR2A	chr4:8271295-8271710	A549	lung:	n/a	n/a
21	POLR2A	chr4:8271413-8271617	A549	lung:	n/a	n/a
22	POLR2A	chr4:8271106-8272177	NB4	blood:	n/a	n/a
23	POLR2A	chr4:8271413-8271572	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:8271080-8271713	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr4:8271076-8271849	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr4:8271060-8271882	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr4:8271336-8271684	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:8271177-8271707	IMR90	lung:	n/a	n/a
29	POLR2A	chr4:8271269-8271763	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:8271130-8271787	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:8271410-8271633	A549	lung:	n/a	n/a
32	POLR2A	chr4:8271296-8271714	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr4:8271267-8271646	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr4:8271155-8271923	HEK293	kidney:	n/a	n/a
35	POLR2A	chr4:8271294-8271784	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:8271308-8271670	ProgFib	skin:	n/a	n/a
37	POLR2A	chr4:8271216-8271857	Gliobla	brain:	n/a	n/a
38	POLR2A	chr4:8271370-8271660	A549	lung:	n/a	n/a
39	POLR2A	chr4:8271404-8271636	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:8271145-8271835	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:8271352-8271603	A549	lung:	n/a	n/a
42	RFX5	chr4:8271611-8271622	HepG2	liver:	n/a	n/a
43	SIN3A	chr4:8271549-8271950	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr4:8271273-8271624	ECC-1	luminal epithelium:	n/a	n/a
45	TBP	chr4:8271327-8271885	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr4:8271327-8271894	H1-hESC	embryonic stem cell:	n/a	chr4:8271398-8271407 chr4:8271422-8271436
47	YY1	chr4:8271504-8271806	HepG2	liver:	n/a	n/a
48	ZNF143	chr4:8271362-8271547	H1-hESC	embryonic stem cell:	n/a	chr4:8271465-8271475

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8271507-8271557	HEEpiC	esophagus:	n/a
2	chr4:8271507-8271557	HEEpiC	esophagus:	n/a
3	chr4:8271414-8271464	K562	blood:	n/a
4	chr4:8271414-8271464	GM12891	blood:	n/a
5	chr4:8271507-8271557	HL-60	blood:	n/a
6	chr4:8271507-8271557	ECC-1	luminal epithelium:	n/a
7	chr4:8271507-8271557	MCF10A-Er-Src	breast:	n/a
8	chr4:8271414-8271464	AG09309	skin:	n/a
9	chr4:8271507-8271557	HCT-116	colon:	n/a
10	chr4:8271414-8271464	MCF-7	breast:	n/a
11	chr4:8271507-8271557	BE2_C	brain:	n/a
12	chr4:8271792-8271842	Jurkat	blood:	n/a
13	chr4:8271414-8271464	GM12878	blood:	n/a
14	chr4:8271414-8271464	ProgFib	skin:	n/a
15	chr4:8271792-8271842	HRE	kidney:	n/a
16	chr4:8271792-8271842	Hepatocyte	liver:	n/a
17	chr4:8271507-8271557	HIPEpiC	eye:	n/a
18	chr4:8271507-8271557	IMR90	lung:	fetal
19	chr4:8271792-8271842	HL-60	blood:	n/a
20	chr4:8271414-8271464	GM12892	blood:	n/a
21	chr4:8271414-8271464	CMK	blood:	n/a
22	chr4:8271792-8271842	H1-hESC	embryonic stem cell:	embryo
23	chr4:8271414-8271464	HepG2	liver:	n/a
24	chr4:8271792-8271842	AG10803	skin:	n/a
25	chr4:8271507-8271557	K562	blood:	n/a
26	chr4:8271507-8271557	CMK	blood:	n/a
27	chr4:8271414-8271464	T-47D	breast:	n/a
28	chr4:8271792-8271842	NHDF-neo	bronchial:	n/a
29	chr4:8271792-8271842	NH-A	brain:	n/a
30	chr4:8271507-8271557	GM12891	blood:	n/a
31	chr4:8271507-8271557	HUVEC	blood vessel:	n/a
32	chr4:8271414-8271464	HCF	heart:	n/a
33	chr4:8271792-8271842	MCF10A-Er-Src	breast:	n/a
34	chr4:8271414-8271464	NH-A	brain:	n/a
35	chr4:8271792-8271842	CMK	blood:	n/a
36	chr4:8271414-8271464	ovcar-3	ovarian:	n/a
37	chr4:8271792-8271842	GM12891	blood:	n/a
38	chr4:8271792-8271842	SAEC	small airway:	n/a
39	chr4:8271792-8271842	U87	brain:	n/a
40	chr4:8271792-8271842	AG04449	skin:	fetal
41	chr4:8271507-8271557	NT2-D1	testis:	n/a
42	chr4:8271507-8271557	NB4	blood:	n/a
43	chr4:8271507-8271557	HRE	kidney:	n/a
44	chr4:8271414-8271464	BE2_C	brain:	n/a
45	chr4:8271792-8271842	HNPCEpiC	eye:	n/a
46	chr4:8271792-8271842	GM19239	blood:	n/a
47	chr4:8271507-8271557	H1-hESC	embryonic stem cell:	embryo
48	chr4:8271414-8271464	SK-N-SH_RA	brain:	n/a
49	chr4:8271792-8271842	AG09319	gingival:	n/a
50	chr4:8271507-8271557	NH-A	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8271058..8271580-chr5:74632260..74632932,2	NB4	blood:
2	chr10:105156345..105156947-chr4:8271069..8272007,2	NB4	blood:
3	chr4:8271372..8272005-chr5:137514142..137514696,2	NB4	blood:
4	chr3:128902200..128903075-chr4:8271389..8271937,2	NB4	blood:
5	chr16:28834863..28835527-chr4:8271061..8271579,2	NB4	blood:

No data

Variant related genes	Relation type
HTRA3	TF binding region
HTRA3	CpG island
ENSG00000169714	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000148843	chromatin interactions
ENSG00000112984	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71603922	chr4:8271481-8271482	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs184906740	chr4:8271489-8271490	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs563142059	chr4:8271527-8271528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs530674268	chr4:8271619-8271620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140526473	chr4:8271775-8271776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543551297	chr4:8271776-8271777	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs201802141	chr4:8271794-8271795	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs528115462	chr4:8271799-8271800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs201803745	chr4:8271816-8271817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs3935003	chr4:8271821-8271822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200028871	chr4:8271873-8271874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs568135248	chr4:8271947-8271948	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs13134565	chr4:8271983-8271984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8254800-8271600	Weak transcription	Gastric	stomach
2	chr4:8268200-8272200	Enhancers	Fetal Heart	heart
3	chr4:8269600-8271600	Weak transcription	Pancreas	Pancrea
4	chr4:8269600-8271800	Weak transcription	A549	lung
5	chr4:8270600-8271600	Enhancers	Colon Smooth Muscle	Colon
6	chr4:8270600-8272200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr4:8270800-8271600	Enhancers	Lung	lung
8	chr4:8270800-8271600	Bivalent Enhancer	NH-A	brain
9	chr4:8270800-8271800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
10	chr4:8270800-8272000	Bivalent/Poised TSS	HepG2	liver
11	chr4:8270800-8272400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr4:8270800-8272800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr4:8270800-8273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr4:8271000-8272200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:8271000-8272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:8271000-8272200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr4:8271000-8272600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:8271000-8276400	Enhancers	Spleen	Spleen
19	chr4:8271200-8271600	Active TSS	Right Ventricle	heart
20	chr4:8271200-8271800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:8271200-8271800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:8271200-8271800	Active TSS	Osteobl	bone
23	chr4:8271200-8272000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:8271200-8272000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:8271200-8272000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:8271200-8272000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:8271200-8272000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr4:8271200-8272000	Active TSS	HSMM	muscle
29	chr4:8271200-8272200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:8271200-8272200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:8271200-8272200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:8271200-8272200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:8271200-8272400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:8271200-8272400	Enhancers	Fetal Lung	lung
35	chr4:8271200-8272400	Active TSS	Ovary	ovary
36	chr4:8271200-8272400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:8271200-8273400	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:8271400-8271600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:8271400-8271600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr4:8271400-8271600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:8271400-8271600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:8271400-8271800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:8271400-8271800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:8271400-8271800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:8271400-8271800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:8271400-8271800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:8271400-8271800	Active TSS	Adipose Nuclei	Adipose
48	chr4:8271400-8271800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:8271400-8271800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
50	chr4:8271400-8272000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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