Variant report

Variant	nsv964067
Chromosome Location	chr4:74803401-74807121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:74804657-74804690	Kidney_OC	kidney:	n/a	n/a
2	ELK4	chr4:74806918-74807024	HEK293	kidney:	n/a	n/a
3	FOS	chr4:74806577-74806703	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr4:74806263-74806344	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr4:74806436-74806437	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:74805152-74805195	Gliobla	brain:	n/a	n/a
7	STAT3	chr4:74803780-74803870	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74806905-74806955	GM19239	blood:	n/a
2	chr4:74806905-74806955	SKMC	muscle:	n/a
3	chr4:74806905-74806955	HIPEpiC	eye:	n/a
4	chr4:74806905-74806955	PrEC	prostate:	n/a
5	chr4:74806905-74806955	LNCaP	prostate:	n/a
6	chr4:74806905-74806955	SK-N-SH_RA	brain:	n/a
7	chr4:74806905-74806955	PANC-1	pancreas:	n/a
8	chr4:74806905-74806955	HNPCEpiC	eye:	n/a
9	chr4:74806905-74806955	ovcar-3	ovarian:	n/a
10	chr4:74806905-74806955	BE2_C	brain:	n/a
11	chr4:74806905-74806955	HepG2	liver:	n/a
12	chr4:74806905-74806955	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:74806905-74806955	HCF	heart:	n/a
14	chr4:74806905-74806955	Hepatocyte	liver:	n/a
15	chr4:74806905-74806955	HRE	kidney:	n/a
16	chr4:74806905-74806955	AoSMC	blood vessel:	n/a
17	chr4:74806905-74806955	RPTEC	kidney:	n/a
18	chr4:74806905-74806955	HUVEC	blood vessel:	n/a
19	chr4:74806905-74806955	HMEC	breast:	n/a
20	chr4:74806905-74806955	HAEpiC	amniotic membrane:	n/a
21	chr4:74806905-74806955	ECC-1	luminal epithelium:	n/a
22	chr4:74806905-74806955	HRPEpiC	eye:	n/a
23	chr4:74806905-74806955	ProgFib	skin:	n/a
24	chr4:74806905-74806955	BJ	skin:	n/a
25	chr4:74806905-74806955	HEK293	kidney:	embryo
26	chr4:74806905-74806955	PFSK-1	brain:	n/a
27	chr4:74806905-74806955	AG09319	gingival:	n/a
28	chr4:74806905-74806955	SK-N-SH	brain:	n/a
29	chr4:74806905-74806955	HCT-116	colon:	n/a
30	chr4:74806905-74806955	Jurkat	blood:	n/a
31	chr4:74806905-74806955	NHBE	bronchial:	n/a
32	chr4:74806905-74806955	HCPEpiC	choroid plexus:	n/a
33	chr4:74806905-74806955	AG10803	skin:	n/a
34	chr4:74806905-74806955	SK-N-MC	brain:	n/a
35	chr4:74806905-74806955	A549	lung:	n/a
36	chr4:74806905-74806955	HEEpiC	esophagus:	n/a
37	chr4:74806905-74806955	NT2-D1	testis:	n/a
38	chr4:74806905-74806955	Hela-S3	cervix:	n/a
39	chr4:74806905-74806955	HRCEpiC	kidney:	n/a
40	chr4:74806905-74806955	HL-60	blood:	n/a
41	chr4:74806905-74806955	H1-hESC	embryonic stem cell:	embryo
42	chr4:74806905-74806955	AG09309	skin:	n/a
43	chr4:74806905-74806955	AG04450	lung:	fetal
44	chr4:74806905-74806955	U87	brain:	n/a
45	chr4:74806905-74806955	GM06990	blood:	n/a
46	chr4:74806905-74806955	AG04449	skin:	fetal
47	chr4:74806905-74806955	MCF10A-Er-Src	breast:	n/a
48	chr4:74806905-74806955	GM12891	blood:	n/a
49	chr4:74806905-74806955	CMK	blood:	n/a
50	chr4:74806905-74806955	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:74801511..74803717-chr4:74807849..74809855,2	K562	blood:
2	chr4:74806189..74808887-chr4:74899171..74901501,2	K562	blood:
3	chr4:74803360..74804892-chr4:74805516..74807150,2	K562	blood:
4	chr4:74803360..74804892-chr4:74805516..74807150,2	K562	blood:
5	chr4:74800982..74803717-chr4:74808355..74810673,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA1P55	TF binding region
HNRNPA1P55	CpG island
ENSG00000250339	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533623377	chr4:74803425-74803426	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181419947	chr4:74803434-74803435	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552264155	chr4:74803556-74803557	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151265610	chr4:74803564-74803565	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527797860	chr4:74803565-74803566	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537849746	chr4:74803568-74803569	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556491773	chr4:74803617-74803618	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370300052	chr4:74803648-74803649	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs352020	chr4:74803650-74803651	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530607208	chr4:74803653-74803654	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548798437	chr4:74803693-74803694	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554040407	chr4:74803697-74803698	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367859452	chr4:74803718-74803719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76991297	chr4:74803735-74803736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538906355	chr4:74803750-74803751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540335592	chr4:74803769-74803770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529333930	chr4:74803776-74803777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186002832	chr4:74803802-74803803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149707021	chr4:74803859-74803860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191095943	chr4:74803891-74803892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367720820	chr4:74803951-74803952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562833200	chr4:74803954-74803955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530354896	chr4:74803990-74803991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548493351	chr4:74803992-74803993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144634713	chr4:74803993-74803994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2367438	chr4:74803994-74803995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2367439	chr4:74803995-74803996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371673031	chr4:74804011-74804012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570571699	chr4:74804044-74804045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150472558	chr4:74804059-74804060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537430572	chr4:74804063-74804064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386676054	chr4:74804066-74804067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549833125	chr4:74804067-74804068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568343740	chr4:74804088-74804089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535721189	chr4:74804097-74804098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183459692	chr4:74804102-74804103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569073856	chr4:74804105-74804106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185926771	chr4:74804196-74804197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539625077	chr4:74804238-74804239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56345737	chr4:74804269-74804270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190882915	chr4:74804312-74804313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182319027	chr4:74804354-74804355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544178691	chr4:74804365-74804366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374092915	chr4:74804366-74804367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574507108	chr4:74804378-74804379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187737145	chr4:74804381-74804382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542076007	chr4:74804405-74804406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560414747	chr4:74804418-74804419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147009722	chr4:74804422-74804423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116254820	chr4:74804444-74804445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74803000-74803600	Enhancers	Duodenum Mucosa	Duodenum
2	chr4:74803400-74803600	Enhancers	Stomach Mucosa	stomach
3	chr4:74803400-74803800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:74803800-74809000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:74806000-74806600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:74806200-74806400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:74806600-74807400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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