Variant report

Variant	nsv916948
Chromosome Location	chr4:93657711-93786768
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	BACH1	chr4:93728575-93728662	K562	blood:	n/a	n/a
2	BATF	chr4:93668507-93668738	GM12878	blood:	n/a	n/a
3	CEBPB	chr4:93730582-93730952	MCF-7	breast:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
4	CEBPB	chr4:93730580-93730850	K562	blood:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
5	CEBPB	chr4:93681975-93682265	A549	lung:	n/a	chr4:93682086-93682097
6	CEBPB	chr4:93730571-93730943	ECC-1	luminal epithelium:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
7	CEBPB	chr4:93730562-93730917	H1-hESC	embryonic stem cell:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
8	CEBPB	chr4:93689167-93689298	H1-hESC	embryonic stem cell:	n/a	chr4:93689218-93689229
9	CEBPB	chr4:93684631-93684724	HepG2	liver:	n/a	chr4:93684658-93684669
10	CEBPB	chr4:93730570-93730923	HepG2	liver:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
11	CEBPB	chr4:93753510-93753717	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:93730552-93730878	ECC-1	luminal epithelium:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
13	CEBPB	chr4:93744766-93744818	K562	blood:	n/a	chr4:93744785-93744794 chr4:93744785-93744794 chr4:93744785-93744794 chr4:93744785-93744796 chr4:93744785-93744794 chr4:93744783-93744796
14	CEBPB	chr4:93684639-93684709	A549	lung:	n/a	chr4:93684658-93684669
15	CEBPB	chr4:93681954-93682242	HepG2	liver:	n/a	chr4:93682086-93682097
16	CEBPB	chr4:93730558-93730864	MCF-7	breast:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
17	CEBPB	chr4:93730571-93730930	Hela-S3	cervix:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
18	CEBPB	chr4:93689119-93689335	K562	blood:	n/a	chr4:93689218-93689229
19	CEBPB	chr4:93730575-93730933	A549	lung:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
20	CEBPB	chr4:93730554-93730928	IMR90	lung:	n/a	chr4:93730724-93730735 chr4:93730738-93730749
21	CTCF	chr4:93664207-93664263	GM10248	blood:	n/a	n/a
22	CTCF	chr4:93677280-93677430	GM06990	blood:	n/a	n/a
23	CTCF	chr4:93758511-93758537	GM13976	blood:	n/a	n/a
24	CTCF	chr4:93780940-93781090	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr4:93735920-93736070	GM06990	blood:	n/a	n/a
26	CTCF	chr4:93781016-93781216	GM12878	blood:	n/a	n/a
27	CTCF	chr4:93682740-93682890	GM12872	blood:	n/a	n/a
28	CTCF	chr4:93781000-93781150	GM12873	blood:	n/a	n/a
29	CTCF	chr4:93735980-93736130	Caco-2	colon:	n/a	n/a
30	CTCF	chr4:93781063-93781091	Medullo	brain:	n/a	n/a
31	CTCF	chr4:93746868-93746973	GM20000	blood:	n/a	n/a
32	CTCF	chr4:93735940-93736090	HMEC	breast:	n/a	n/a
33	E2F4	chr4:93727578-93727768	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr4:93760978-93760979	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr4:93719778-93719901	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr4:93732290-93732367	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr4:93707534-93707594	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr4:93705879-93706231	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr4:93678773-93678973	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr4:93683418-93683616	GM12878	blood:	n/a	n/a
41	FAM48A	chr4:93710960-93711039	GM12878	blood:	n/a	n/a
42	FAM48A	chr4:93762160-93762230	GM12878	blood:	n/a	n/a
43	FOS	chr4:93697261-93697615	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr4:93719532-93719612	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr4:93697252-93697609	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr4:93746503-93746754	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:93719487-93719617	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:93746524-93746674	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:93697280-93697821	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr4:93697266-93697629	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
2	chr4:93667707..93669873-chr4:93672761..93675696,2	K562	blood:
3	chr4:93667707..93669873-chr4:93672761..93675696,2	K562	blood:
4	chr4:93679723..93682037-chr4:93683419..93685148,2	K562	blood:
5	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
6	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
7	chr4:93679723..93682037-chr4:93683419..93685148,2	K562	blood:
8	chr4:93679131..93681725-chr4:93686462..93688437,2	K562	blood:
9	chr4:93679131..93681725-chr4:93686462..93688437,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-2	chr4:93754836-93755124	ENSG00000248627.1
2	lnc-RP11-9B6.1.1-2	chr4:93759934-93759993	ENSG00000248627.1
3	lnc-RP11-9B6.1.1-6	chr4:93743137-93744069	NONHSAT097434

Variant related genes	Relation type
ENSG00000249239	TF binding region
ENSG00000248627	TF binding region
GRID2	TF binding region

Extended variants
information (count: 4974 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4974 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182302587	chr4:93657717-93657718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111326462	chr4:93657749-93657750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17019841	chr4:93657766-93657767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187723155	chr4:93657770-93657771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562223490	chr4:93657800-93657801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531344535	chr4:93657883-93657884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550959453	chr4:93657902-93657903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567386681	chr4:93657909-93657910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571108435	chr4:93657951-93657952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115541306	chr4:93657963-93657964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192681900	chr4:93657969-93657970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35825565	chr4:93657998-93657999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75306870	chr4:93658023-93658024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536816828	chr4:93658059-93658060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556832646	chr4:93658175-93658176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147290363	chr4:93658204-93658205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113917421	chr4:93658208-93658209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370583322	chr4:93658272-93658273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559013748	chr4:93658280-93658281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572309868	chr4:93658281-93658282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541431764	chr4:93658289-93658290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188448745	chr4:93658290-93658291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192862085	chr4:93658394-93658395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542403830	chr4:93658479-93658480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140427235	chr4:93658505-93658506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572186844	chr4:93658518-93658519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372136342	chr4:93658521-93658522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556427637	chr4:93658524-93658525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201058028	chr4:93658539-93658540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184661291	chr4:93658545-93658546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368270259	chr4:93658549-93658550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188812438	chr4:93658553-93658554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538603863	chr4:93658624-93658625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10049858	chr4:93658638-93658639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567845246	chr4:93658640-93658641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536989258	chr4:93658682-93658683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375725430	chr4:93658688-93658689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529847437	chr4:93658761-93658762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1434785	chr4:93658805-93658806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539247805	chr4:93658806-93658807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs207464876	chr4:93658814-93658815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180849373	chr4:93658831-93658832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566188723	chr4:93658853-93658854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566142951	chr4:93658889-93658890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534688689	chr4:93658922-93658923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532241277	chr4:93658960-93658961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554982861	chr4:93658974-93658975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183964459	chr4:93659051-93659052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572376572	chr4:93659136-93659137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542467153	chr4:93659244-93659245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioma	20126413	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93636000-93687200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93654000-93658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:93655200-93659000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:93659000-93659200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:93662200-93680800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:93663400-93664400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:93663600-93664400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:93666400-93667800	Enhancers	Brain Anterior Caudate	brain
9	chr4:93666800-93667400	Active TSS	Brain Substantia Nigra	brain
10	chr4:93667000-93667200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:93667000-93667400	Active TSS	Brain Cingulate Gyrus	brain
12	chr4:93667200-93667400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr4:93667400-93667800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:93667400-93667800	Enhancers	Brain Substantia Nigra	brain
15	chr4:93673000-93673400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:93673000-93673400	Enhancers	Fetal Heart	heart
17	chr4:93673000-93673400	Enhancers	Fetal Lung	lung
18	chr4:93679000-93682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:93680000-93690400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:93680200-93688200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:93680400-93690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:93680800-93681800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr4:93681400-93681800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:93681400-93681800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:93681400-93682000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:93681400-93682800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:93681800-93682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:93681800-93686600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:93682000-93682400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:93682400-93682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:93682600-93682800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:93682600-93682800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:93682800-93685200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:93685000-93689600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:93685200-93685400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:93685200-93685400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:93685200-93685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr4:93685400-93688000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:93686600-93687400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr4:93687200-93689200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:93687400-93689600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:93687800-93688200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:93688000-93688800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:93688200-93688400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:93688200-93688600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr4:93688400-93720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:93688800-93690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:93689200-93690400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr4:93689600-93690000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr4:93689600-93690000	Strong transcription	H1 Cell Line	embryonic stem cell

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