Variant report

Variant	nsv291347
Chromosome Location	chr4:1266446-1266638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1265257..1267082-chr4:1285469..1287790,2	K562	blood:
2	chr4:1266374..1269150-chr4:1278693..1281595,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139474659	chr4:1266446-1266447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142158502	chr4:1266447-1266448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28704549	chr4:1266457-1266458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28433590	chr4:1266462-1266463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111846177	chr4:1266466-1266467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60846617	chr4:1266477-1266478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61715446	chr4:1266485-1266486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58780850	chr4:1266492-1266493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60917279	chr4:1266493-1266494	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs59132492	chr4:1266503-1266504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76096826	chr4:1266514-1266515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61614089	chr4:1266523-1266524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60206427	chr4:1266533-1266534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187755847	chr4:1266540-1266541	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs57357791	chr4:1266541-1266542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184735061	chr4:1266546-1266547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58791467	chr4:1266552-1266553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370756263	chr4:1266553-1266554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189553961	chr4:1266557-1266558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375056277	chr4:1266566-1266567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376789305	chr4:1266581-1266582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200529557	chr4:1266582-1266583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60865538	chr4:1266588-1266589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59417694	chr4:1266589-1266590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202070698	chr4:1266590-1266591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75030047	chr4:1266595-1266596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137917416	chr4:1266601-1266602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62293623	chr4:1266616-1266617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543719225	chr4:1266636-1266637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77269350	chr4:1266637-1266638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1245400-1282400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:1245600-1266800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:1245800-1278600	Weak transcription	Gastric	stomach
4	chr4:1245800-1282600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:1245800-1282600	Weak transcription	Right Ventricle	heart
6	chr4:1246000-1282600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:1254800-1282400	Weak transcription	Pancreas	Pancrea
8	chr4:1255000-1273000	Weak transcription	Spleen	Spleen
9	chr4:1257000-1272000	Weak transcription	Aorta	Aorta
10	chr4:1259400-1283000	Weak transcription	Ovary	ovary
11	chr4:1259800-1270600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:1263400-1282600	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:1263800-1282800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:1264200-1271800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:1265200-1280000	Weak transcription	Brain Cingulate Gyrus	brain

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