Variant report

Variant	nsv1026954
Chromosome Location	chr4:158551136-158594600
allele	n/a
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	chr4:158586760-158586987	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:158584155-158584191	A549	lung:	n/a	chr4:158584166-158584177 chr4:158584164-158584177 chr4:158584164-158584175 chr4:158584166-158584175
3	CEBPB	chr4:158584028-158584238	HepG2	liver:	n/a	chr4:158584166-158584177 chr4:158584164-158584177 chr4:158584164-158584175 chr4:158584166-158584175
4	CEBPB	chr4:158584051-158584259	H1-hESC	embryonic stem cell:	n/a	chr4:158584166-158584177 chr4:158584164-158584177 chr4:158584164-158584175 chr4:158584166-158584175
5	CEBPB	chr4:158584156-158584295	K562	blood:	n/a	chr4:158584166-158584177 chr4:158584252-158584265 chr4:158584164-158584177 chr4:158584164-158584175 chr4:158584166-158584175
6	E2F4	chr4:158589173-158589577	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr4:158572840-158572845	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr4:158567192-158567359	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:158584139-158584233	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:158585910-158586229	MCF10A-Er-Src	breast:	n/a	chr4:158586090-158586098 chr4:158586088-158586099 chr4:158586091-158586102 chr4:158586088-158586100
11	FOS	chr4:158585906-158586251	MCF10A-Er-Src	breast:	n/a	chr4:158586090-158586098 chr4:158586088-158586099 chr4:158586091-158586102 chr4:158586088-158586100
12	FOS	chr4:158585883-158586248	MCF10A-Er-Src	breast:	n/a	chr4:158586090-158586098 chr4:158586088-158586099 chr4:158586091-158586102 chr4:158586088-158586100
13	FOS	chr4:158585885-158586261	MCF10A-Er-Src	breast:	n/a	chr4:158586090-158586098 chr4:158586088-158586099 chr4:158586091-158586102 chr4:158586088-158586100
14	FOS	chr4:158585917-158586223	HUVEC	blood vessel:	n/a	chr4:158586090-158586098 chr4:158586088-158586099 chr4:158586091-158586102 chr4:158586088-158586100
15	FOSL1	chr4:158585870-158586211	HCT-116	colon:	n/a	chr4:158586090-158586098 chr4:158586091-158586102 chr4:158586088-158586100
16	FOSL1	chr4:158585800-158586307	HCT-116	colon:	n/a	chr4:158586090-158586098 chr4:158586091-158586102 chr4:158586088-158586100
17	FOSL2	chr4:158585776-158586349	SK-N-SH	brain:	n/a	chr4:158586090-158586098 chr4:158586091-158586102 chr4:158586088-158586100
18	JUND	chr4:158585828-158586358	SK-N-SH	brain:	n/a	chr4:158586090-158586098 chr4:158586091-158586102 chr4:158586088-158586100
19	JUND	chr4:158585998-158586198	H1-hESC	embryonic stem cell:	n/a	chr4:158586090-158586098 chr4:158586091-158586102 chr4:158586088-158586100
20	JUND	chr4:158574242-158574445	HepG2	liver:	n/a	chr4:158574311-158574320
21	MAFK	chr4:158562717-158562803	HepG2	liver:	n/a	n/a
22	MXI1	chr4:158589992-158589994	K562	blood:	n/a	n/a
23	MYC	chr4:158585995-158586111	MCF10A-Er-Src	breast:	n/a	n/a
24	NR2F2	chr4:158556998-158557356	K562	blood:	n/a	n/a
25	POLR2A	chr4:158562250-158562450	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr4:158558065-158558200	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:158560519-158560560	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:158564361-158564729	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr4:158589078-158589217	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:158560675-158560797	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:158574344-158574345	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:158551772-158551942	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr4:158564425-158564748	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr4:158558064-158558207	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:158577512-158577595	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:158573734-158573934	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr4:158584088-158584224	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:158572018-158572097	GM12878	blood:	n/a	n/a
39	REST	chr4:158559866-158560169	HL-60	blood:	n/a	n/a
40	REST	chr4:158564478-158564720	H1-neurons	neurons:	n/a	n/a
41	REST	chr4:158559803-158560175	ECC-1	luminal epithelium:	n/a	n/a
42	RFX5	chr4:158576359-158576751	H1-hESC	embryonic stem cell:	n/a	chr4:158576470-158576484 chr4:158576472-158576481
43	RFX5	chr4:158576172-158576913	SK-N-SH	brain:	n/a	chr4:158576470-158576484 chr4:158576472-158576481
44	RFX5	chr4:158576355-158576792	HepG2	liver:	n/a	chr4:158576470-158576484 chr4:158576472-158576481
45	STAT3	chr4:158582625-158582825	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr4:158591804-158591851	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:158555507-158555557	BE2_C	brain:	n/a
2	chr4:158559183-158559233	HCF	heart:	n/a
3	chr4:158557564-158557614	A549	lung:	n/a
4	chr4:158559183-158559233	HUVEC	blood vessel:	n/a
5	chr4:158555507-158555557	GM19239	blood:	n/a
6	chr4:158555507-158555557	NHDF-neo	bronchial:	n/a
7	chr4:158555507-158555557	Caco-2	colon:	n/a
8	chr4:158555507-158555557	HIPEpiC	eye:	n/a
9	chr4:158557564-158557614	GM12892	blood:	n/a
10	chr4:158555507-158555557	PrEC	prostate:	n/a
11	chr4:158559183-158559233	GM12892	blood:	n/a
12	chr4:158559183-158559233	PrEC	prostate:	n/a
13	chr4:158555507-158555557	HCF	heart:	n/a
14	chr4:158559183-158559233	GM06990	blood:	n/a
15	chr4:158557564-158557614	SKMC	muscle:	n/a
16	chr4:158559183-158559233	NH-A	brain:	n/a
17	chr4:158557564-158557614	BE2_C	brain:	n/a
18	chr4:158557564-158557614	H1-hESC	embryonic stem cell:	embryo
19	chr4:158555507-158555557	PANC-1	pancreas:	n/a
20	chr4:158559183-158559233	SKMC	muscle:	n/a
21	chr4:158557564-158557614	HL-60	blood:	n/a
22	chr4:158555507-158555557	AG04450	lung:	fetal
23	chr4:158557564-158557614	AG10803	skin:	n/a
24	chr4:158555507-158555557	GM12891	blood:	n/a
25	chr4:158559183-158559233	Caco-2	colon:	n/a
26	chr4:158555507-158555557	T-47D	breast:	n/a
27	chr4:158555507-158555557	LNCaP	prostate:	n/a
28	chr4:158555507-158555557	SAEC	small airway:	n/a
29	chr4:158559183-158559233	SK-N-SH	brain:	n/a
30	chr4:158557564-158557614	HCPEpiC	choroid plexus:	n/a
31	chr4:158559183-158559233	HAEpiC	amniotic membrane:	n/a
32	chr4:158555507-158555557	ECC-1	luminal epithelium:	n/a
33	chr4:158555507-158555557	HEEpiC	esophagus:	n/a
34	chr4:158555507-158555557	AG10803	skin:	n/a
35	chr4:158559183-158559233	HPAEpiC	pulmonary alveolar:	n/a
36	chr4:158555507-158555557	Jurkat	blood:	n/a
37	chr4:158559183-158559233	T-47D	breast:	n/a
38	chr4:158559183-158559233	SK-N-MC	brain:	n/a
39	chr4:158557564-158557614	HEEpiC	esophagus:	n/a
40	chr4:158559183-158559233	HepG2	liver:	n/a
41	chr4:158557564-158557614	HIPEpiC	eye:	n/a
42	chr4:158559183-158559233	NHDF-neo	bronchial:	n/a
43	chr4:158559183-158559233	Jurkat	blood:	n/a
44	chr4:158559183-158559233	NHBE	bronchial:	n/a
45	chr4:158557564-158557614	ProgFib	skin:	n/a
46	chr4:158557564-158557614	SK-N-SH	brain:	n/a
47	chr4:158559183-158559233	Hepatocyte	liver:	n/a
48	chr4:158555507-158555557	Hela-S3	cervix:	n/a
49	chr4:158559183-158559233	HNPCEpiC	eye:	n/a
50	chr4:158559183-158559233	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:
2	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:
3	chr4:158564345..158567387-chr4:158569401..158572214,3	MCF-7	breast:
4	chr4:158564345..158567387-chr4:158569401..158572214,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249275	TF binding region
ENSG00000249275	CpG island

Extended variants
information (count: 280 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562406134	chr4:158555521-158555522	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs529940643	chr4:158557109-158557110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543831930	chr4:158557121-158557122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71640664	chr4:158557148-158557149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4690888	chr4:158557149-158557150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4248876	chr4:158557166-158557167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373504126	chr4:158557184-158557185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7376319	chr4:158557205-158557206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548094318	chr4:158557229-158557230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566284631	chr4:158557261-158557262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs35727036	chr4:158557564-158557565	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs80318935	chr4:158557568-158557569	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs71545254	chr4:158557574-158557575	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs76936726	chr4:158557576-158557577	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs184614643	chr4:158558129-158558130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556970211	chr4:158558149-158558150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376738299	chr4:158558168-158558169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112688978	chr4:158558190-158558191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561640652	chr4:158574257-158574258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181544522	chr4:158574269-158574270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6821900	chr4:158574310-158574311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560767474	chr4:158574320-158574321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138974802	chr4:158574357-158574358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2172016	chr4:158574372-158574373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1473501	chr4:158574381-158574382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531644936	chr4:158574430-158574431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186281774	chr4:158574439-158574440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568077609	chr4:158574504-158574505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535773421	chr4:158574587-158574588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547351667	chr4:158574588-158574589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565912244	chr4:158574608-158574609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1844645	chr4:158574620-158574621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1844644	chr4:158574621-158574622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557938693	chr4:158574642-158574643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4093461	chr4:158574670-158574671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576227114	chr4:158574682-158574683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4093460	chr4:158574691-158574692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537109940	chr4:158574714-158574715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191004631	chr4:158574724-158574725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149472141	chr4:158574771-158574772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570206137	chr4:158574794-158574795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78910091	chr4:158574814-158574815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200253819	chr4:158574830-158574831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542559573	chr4:158574847-158574848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4691429	chr4:158574860-158574861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs202151155	chr4:158574863-158574864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35298661	chr4:158574909-158574910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572662239	chr4:158574917-158574918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546081151	chr4:158574930-158574931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564309576	chr4:158574966-158574967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158574200-158577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:158575200-158575400	Enhancers	Brain Hippocampus Middle	brain
3	chr4:158575400-158576400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:158575600-158577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:158576000-158576200	Enhancers	Brain Anterior Caudate	brain
6	chr4:158576000-158577000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:158576200-158576600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:158576200-158576600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:158576200-158576600	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr4:158576200-158576800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:158576200-158577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:158576200-158577000	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:158576200-158577400	Enhancers	Adipose Nuclei	Adipose
14	chr4:158576400-158576800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:158576400-158576800	Enhancers	Aorta	Aorta
16	chr4:158576400-158576800	Enhancers	Brain Angular Gyrus	brain
17	chr4:158576400-158576800	Enhancers	Brain Hippocampus Middle	brain
18	chr4:158576400-158576800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:158576600-158576800	Enhancers	Brain Anterior Caudate	brain
20	chr4:158585400-158586600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:158585600-158586000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:158585600-158586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:158586200-158586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:158592200-158595000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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