Variant report

Variant	nsv879543
Chromosome Location	chr4:91428124-91524285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:47998718..47999258-chr4:91489119..91489668,2	MCF-7	breast:
2	chr4:91463389..91465563-chr4:91469632..91471187,2	MCF-7	breast:
3	chr4:91440965..91443804-chr4:91452730..91455002,2	K562	blood:
4	chr4:91048483..91050234-chr4:91455685..91457899,2	MCF-7	breast:
5	chr4:91463389..91465563-chr4:91469632..91471187,2	MCF-7	breast:
6	chr17:65908730..65909591-chr4:91470884..91471745,2	MCF-7	breast:
7	chr20:52209202..52210848-chr4:91496591..91499331,2	MCF-7	breast:
8	chr4:91475885..91478394-chr4:91480421..91482104,2	MCF-7	breast:
9	chr4:91479281..91481039-chr4:91482088..91484800,2	MCF-7	breast:
10	chr4:91436644..91439934-chr4:91440131..91443030,3	K562	blood:
11	chr4:91475885..91478394-chr4:91480421..91482104,2	MCF-7	breast:
12	chr4:91440965..91443804-chr4:91452730..91455002,2	K562	blood:
13	chr4:91436644..91439934-chr4:91440131..91443030,3	K562	blood:
14	chr4:91046903..91050023-chr4:91466450..91469412,4	MCF-7	breast:
15	chr4:91479281..91481039-chr4:91482088..91484800,2	MCF-7	breast:
16	chr4:91520650..91523226-chr4:91526480..91528808,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184305	chromatin interactions
ENSG00000171940	chromatin interactions

Extended variants
information (count: 1442 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186544371	chr4:91437215-91437216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538632426	chr4:91437247-91437248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552973787	chr4:91437263-91437264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149011346	chr4:91437281-91437282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535466987	chr4:91437313-91437314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565398237	chr4:91437314-91437315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370953512	chr4:91437341-91437342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375635170	chr4:91437355-91437356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555870473	chr4:91437363-91437364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575645782	chr4:91437387-91437388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142961448	chr4:91437413-91437414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564634710	chr4:91437416-91437417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191601652	chr4:91437489-91437490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540953485	chr4:91437531-91437532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532965888	chr4:91437556-91437557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs608219	chr4:91437623-91437624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560749850	chr4:91437770-91437771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10024428	chr4:91437848-91437849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368189815	chr4:91437849-91437850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116300759	chr4:91437853-91437854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs392353	chr4:91437862-91437863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530484561	chr4:91437865-91437866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6815641	chr4:91437866-91437867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs446661	chr4:91437897-91437898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570285637	chr4:91437909-91437910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142498496	chr4:91437916-91437917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560078153	chr4:91437923-91437924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566645339	chr4:91437925-91437926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535890284	chr4:91437954-91437955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527425605	chr4:91437963-91437964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182750683	chr4:91437982-91437983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569348983	chr4:91438047-91438048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146749722	chr4:91438086-91438087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558260299	chr4:91438101-91438102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578233037	chr4:91438111-91438112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6815904	chr4:91438160-91438161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548667447	chr4:91438213-91438214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567130620	chr4:91438250-91438251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571751014	chr4:91438263-91438264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557361650	chr4:91438278-91438279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9994165	chr4:91438357-91438358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35600441	chr4:91438425-91438426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533440273	chr4:91438474-91438475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138769344	chr4:91438481-91438482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371052142	chr4:91438498-91438499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187830305	chr4:91438499-91438500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530653252	chr4:91438630-91438631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543932053	chr4:91438632-91438633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141209437	chr4:91438675-91438676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190783610	chr4:91438692-91438693	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Multiple myeloma	17550852	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91437200-91438200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:91438200-91438600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:91438600-91439000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:91443600-91443800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:91443800-91444800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:91444800-91445000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:91445000-91445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:91445400-91445600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:91445600-91446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:91457600-91457800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:91457600-91457800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:91457600-91459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:91457600-91459800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:91457600-91461000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:91457800-91458200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:91457800-91458400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:91457800-91458800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:91457800-91461200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:91458200-91459400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:91458400-91460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:91458800-91459200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:91458800-91459200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:91459000-91459400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:91459200-91463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:91459400-91459800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:91459400-91460400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:91459800-91460200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:91460200-91460800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:91460400-91460800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:91460600-91460800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:91462400-91464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:91462400-91464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:91463400-91463600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:91463400-91463800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:91463400-91465000	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:91464800-91465000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:91464800-91465200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:91464800-91465800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:91465000-91467600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:91465000-91468000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:91465200-91466000	Enhancers	Fetal Muscle Leg	muscle
42	chr4:91465200-91467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:91465600-91465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:91465600-91468200	Enhancers	Hela-S3	cervix
45	chr4:91465800-91466600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:91465800-91468200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:91465800-91468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:91466000-91468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:91466600-91467600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:91467000-91467400	Enhancers	HMEC	breast

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