Variant report

Variant	nsv595379
Chromosome Location	chr4:124337522-124395024
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124338250..124340040-chr4:124341621..124343166,2	K562	blood:
2	chr4:124340419..124342149-chr4:124342290..124345121,2	MCF-7	breast:
3	chr4:124381466..124384700-chr4:124385478..124387140,3	K562	blood:
4	chr4:124343091..124345315-chr4:124349743..124351770,2	K562	blood:
5	chr4:124338250..124340040-chr4:124341621..124343166,2	K562	blood:
6	chr4:124384973..124386979-chr4:124398661..124400442,2	MCF-7	breast:
7	chr4:124319636..124321563-chr4:124343114..124346032,2	K562	blood:
8	chr18:32869888..32870728-chr4:124365086..124365822,2	NB4	blood:
9	chr4:124331362..124333358-chr4:124337314..124340093,2	K562	blood:
10	chr4:124387178..124390314-chr4:124393146..124396111,3	K562	blood:
11	chr4:124386707..124390033-chr4:124393146..124396206,4	K562	blood:
12	chr4:124340163..124342380-chr4:124343948..124346028,2	K562	blood:
13	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:
14	chr4:124343091..124345315-chr4:124349743..124351770,2	K562	blood:
15	chr4:124387178..124390314-chr4:124393146..124396111,3	K562	blood:
16	chr4:124340419..124342149-chr4:124342290..124345121,2	MCF-7	breast:
17	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:
18	chr4:124381466..124384700-chr4:124385478..124387140,3	K562	blood:
19	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:
20	chr4:124394983..124396810-chr4:124408695..124410589,2	K562	blood:
21	chr4:124391182..124393598-chr4:124402395..124406116,3	K562	blood:
22	chr4:124384182..124386776-chr4:124387897..124390106,2	K562	blood:
23	chr4:124312152..124314959-chr4:124365213..124367146,2	K562	blood:
24	chr4:124340163..124342380-chr4:124343948..124346028,2	K562	blood:
25	chr4:124386707..124390033-chr4:124393146..124396206,4	K562	blood:
26	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:
27	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:
28	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:
29	chr4:124384182..124386776-chr4:124387897..124390106,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268573	chromatin interactions
ENSG00000186814	chromatin interactions
ENSG00000257267	chromatin interactions
ENSG00000164056	chromatin interactions

Extended variants
information (count: 1853 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1853 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12505913	chr4:124337522-124337523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532718527	chr4:124337618-124337619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140612406	chr4:124337665-124337666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78872420	chr4:124337709-124337710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568082460	chr4:124337719-124337720	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535085188	chr4:124337722-124337723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528759646	chr4:124337807-124337808	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145637621	chr4:124337811-124337812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117168604	chr4:124337854-124337855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574470625	chr4:124337863-124337864	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557446743	chr4:124337937-124337938	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188561891	chr4:124337980-124337981	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543471305	chr4:124338072-124338073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570969312	chr4:124338113-124338114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539812006	chr4:124338176-124338177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553117368	chr4:124338223-124338224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563153493	chr4:124338246-124338247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9994045	chr4:124338253-124338254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532799347	chr4:124338260-124338261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192893822	chr4:124338263-124338264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182802898	chr4:124338290-124338291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552597063	chr4:124338303-124338304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575340917	chr4:124338534-124338535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544004437	chr4:124338565-124338566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367696656	chr4:124338570-124338571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201414659	chr4:124338678-124338679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397783613	chr4:124338692-124338693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74493622	chr4:124338693-124338694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563797002	chr4:124338754-124338755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532879416	chr4:124338783-124338784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74406300	chr4:124338802-124338803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200050106	chr4:124338805-124338806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371413820	chr4:124338832-124338833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528924245	chr4:124338947-124338948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151047588	chr4:124338991-124338992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187181426	chr4:124339009-124339010	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35563113	chr4:124339105-124339106	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559893794	chr4:124339128-124339129	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191294850	chr4:124339187-124339188	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11434295	chr4:124339213-124339214	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570932695	chr4:124339219-124339220	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397976888	chr4:124339220-124339221	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539917204	chr4:124339258-124339259	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183922509	chr4:124339286-124339287	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189382818	chr4:124339336-124339337	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535888257	chr4:124339375-124339376	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562615997	chr4:124339389-124339390	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140386132	chr4:124339435-124339436	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376632541	chr4:124339473-124339474	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575183100	chr4:124339476-124339477	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
3	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
6	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:124333400-124337800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:124333400-124339400	Weak transcription	Psoas Muscle	Psoas
9	chr4:124333600-124339000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:124333600-124339200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:124333800-124342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:124334000-124339600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:124334200-124338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:124334400-124337600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:124334400-124338800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:124334400-124338800	Weak transcription	HSMMtube	muscle
17	chr4:124334600-124339000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:124334600-124339400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:124334800-124338800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:124334800-124339600	Weak transcription	Small Intestine	intestine
21	chr4:124335000-124339400	Weak transcription	GM12878-XiMat	blood
22	chr4:124335000-124339600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:124335000-124339800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:124335200-124339200	Weak transcription	Fetal Intestine Small	intestine
25	chr4:124335400-124338400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:124335400-124339000	Weak transcription	Fetal Intestine Large	intestine
27	chr4:124335400-124339200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:124335400-124339200	Enhancers	HepG2	liver
29	chr4:124336000-124339800	Weak transcription	Colonic Mucosa	Colon
30	chr4:124336000-124340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:124336200-124339400	Enhancers	HUVEC	blood vessel
32	chr4:124336400-124338000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:124336400-124338000	Enhancers	Fetal Thymus	thymus
34	chr4:124336600-124338000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:124336600-124339400	Enhancers	NHEK	skin
36	chr4:124336600-124340600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:124336800-124337800	Enhancers	NH-A	brain
38	chr4:124336800-124338000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:124336800-124338200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:124336800-124338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:124336800-124339400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:124336800-124339400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:124336800-124339800	Enhancers	HSMM	muscle
44	chr4:124336800-124340200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:124336800-124340200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:124336800-124340600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:124336800-124340800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:124336800-124340800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:124337000-124337600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:124337000-124337600	Enhancers	Primary T cells from cord blood	blood

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