Variant report

Variant	nsv593545
Chromosome Location	chr4:6897936-6900498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
2	chr4:6891429..6893781-chr4:6896508..6898133,2	K562	blood:
3	chr4:6895522..6898076-chr4:6987277..6989270,2	K562	blood:
4	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
5	chr4:6720097..6722236-chr4:6897699..6899323,2	K562	blood:
6	chr4:6896553..6898148-chr4:7068818..7071167,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	chromatin interactions
ENSG00000109519	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531894304	chr4:6897953-6897954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550393595	chr4:6898012-6898013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571910024	chr4:6898104-6898105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192478659	chr4:6898107-6898108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369480242	chr4:6898117-6898118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538947125	chr4:6898173-6898174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548096122	chr4:6898184-6898185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534516377	chr4:6898284-6898285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533796245	chr4:6898426-6898427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555000715	chr4:6898513-6898514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183630753	chr4:6898600-6898601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543827762	chr4:6898618-6898619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537592551	chr4:6898666-6898667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186489628	chr4:6898678-6898679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577797944	chr4:6898728-6898729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192941797	chr4:6898729-6898730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554051630	chr4:6898740-6898741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572309820	chr4:6898766-6898767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539391931	chr4:6898851-6898852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543047627	chr4:6898854-6898855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561313349	chr4:6898863-6898864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531832746	chr4:6898867-6898868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200231976	chr4:6898869-6898870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562852275	chr4:6898872-6898873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543967158	chr4:6898956-6898957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370462697	chr4:6898967-6898968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532761756	chr4:6898981-6898982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547737345	chr4:6898993-6898994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184893132	chr4:6898994-6898995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375746785	chr4:6899033-6899034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527237244	chr4:6899080-6899081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34152301	chr4:6899132-6899133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566960113	chr4:6899140-6899141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76417955	chr4:6899154-6899155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142464859	chr4:6899177-6899178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74987733	chr4:6899186-6899187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571321847	chr4:6899196-6899197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533399343	chr4:6899315-6899316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59266658	chr4:6899320-6899321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77406767	chr4:6899330-6899331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114027792	chr4:6899365-6899366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572302067	chr4:6899380-6899381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10025944	chr4:6899425-6899426	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554987188	chr4:6899434-6899435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140083297	chr4:6899593-6899594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189789676	chr4:6899623-6899624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559318671	chr4:6899639-6899640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543906694	chr4:6899640-6899641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9991283	chr4:6899673-6899674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532554526	chr4:6899869-6899870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6894400-6900600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:6894600-6903000	Weak transcription	HSMM	muscle
3	chr4:6894600-6903600	Weak transcription	Right Atrium	heart
4	chr4:6894800-6900600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:6894800-6900600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:6895400-6900600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:6895400-6900600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:6895400-6900600	Weak transcription	Fetal Thymus	thymus
9	chr4:6895400-6900600	Weak transcription	GM12878-XiMat	blood
10	chr4:6895400-6900800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:6895600-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:6895800-6899400	Enhancers	HepG2	liver
13	chr4:6895800-6900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:6895800-6901800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:6896400-6900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:6896400-6900600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:6896400-6900800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:6896800-6900600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:6896800-6906200	Weak transcription	Liver	Liver
20	chr4:6896800-6909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:6897000-6900600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:6897000-6900600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:6897200-6900600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:6897200-6900600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:6897400-6899600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:6897400-6900400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:6897600-6898000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:6897600-6898400	Enhancers	K562	blood
29	chr4:6897600-6898600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:6898000-6909600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:6898400-6902200	Weak transcription	K562	blood
32	chr4:6899400-6900600	Weak transcription	HepG2	liver
33	chr4:6899600-6903200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:6900400-6903200	Enhancers	Primary T cells fromperipheralblood	blood

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