Variant report

Variant	nsv593218
Chromosome Location	chr4:739331-741379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:741073..743262-chr4:744150..746174,2	K562	blood:
2	chr4:732543..739360-chr4:740100..745945,6	K562	blood:
3	chr4:741180..743978-chr4:986881..988849,2	MCF-7	breast:
4	chr4:735427..738255-chr4:740119..742339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185619	chromatin interactions
ENSG00000145217	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33933120	chr4:739401-739402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35713631	chr4:739423-739424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34197180	chr4:739426-739427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs67720625	chr4:739458-739459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66741654	chr4:739483-739484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376049651	chr4:739629-739630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201430714	chr4:739633-739634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368598094	chr4:739654-739655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200607279	chr4:739738-739739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538243943	chr4:739796-739797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371387822	chr4:739800-739801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375955539	chr4:739825-739826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74726973	chr4:739882-739883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556282834	chr4:739910-739911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199501275	chr4:739938-739939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78344666	chr4:739995-739996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76767402	chr4:740164-740165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111496932	chr4:740191-740192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201723568	chr4:740196-740197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74317978	chr4:740199-740200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200894033	chr4:740255-740256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372113462	chr4:740333-740334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71640345	chr4:740650-740651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76844580	chr4:740789-740790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71166829	chr4:740824-740825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28562889	chr4:740881-740882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553246627	chr4:741020-741021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28668066	chr4:741052-741053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28711789	chr4:741086-741087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10213233	chr4:741134-741135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536502544	chr4:741188-741189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13132109	chr4:741191-741192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10213118	chr4:741215-741216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371447967	chr4:741220-741221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9761696	chr4:741246-741247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs13132139	chr4:741249-741250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7681592	chr4:741281-741282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572942929	chr4:741285-741286	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567079488	chr4:741286-741287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs13132353	chr4:741306-741307	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56095446	chr4:741341-741342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7376232	chr4:741359-741360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533918145	chr4:741368-741369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:721000-743600	Weak transcription	Right Atrium	heart
4	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:728000-741800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:729000-742400	Weak transcription	Small Intestine	intestine
9	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
10	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
12	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:729800-741600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:732000-742400	Weak transcription	NHDF-Ad	bronchial
15	chr4:732000-745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:732200-741800	Weak transcription	K562	blood
17	chr4:732200-743600	Weak transcription	HMEC	breast
18	chr4:733600-741600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:733600-741600	Weak transcription	GM12878-XiMat	blood
20	chr4:733600-742600	Weak transcription	Stomach Mucosa	stomach
21	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:733800-747400	Weak transcription	Primary B cells from cord blood	blood
23	chr4:734000-741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:734000-744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:734000-745400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:734200-741800	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:734200-744800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:734400-741400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:734400-741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:734400-745400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:734600-741800	Weak transcription	A549	lung
32	chr4:734800-741800	Weak transcription	Brain Substantia Nigra	brain
33	chr4:734800-742000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:734800-744200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:734800-745600	Weak transcription	Brain Anterior Caudate	brain
36	chr4:735000-741400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr4:735000-741600	Weak transcription	NHEK	skin
38	chr4:735000-741800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:735000-743600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:735000-743800	Weak transcription	Colonic Mucosa	Colon
41	chr4:735200-741600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:735200-741600	Weak transcription	Adipose Nuclei	Adipose
43	chr4:735200-741600	Weak transcription	HSMM	muscle
44	chr4:735200-741600	Weak transcription	HSMMtube	muscle
45	chr4:735200-742000	Weak transcription	Esophagus	oesophagus
46	chr4:735200-742000	Weak transcription	HUVEC	blood vessel
47	chr4:735200-742400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:735200-745200	Weak transcription	Fetal Brain Male	brain
49	chr4:735200-745400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:735800-741600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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