Variant report

Variant	nsv980476
Chromosome Location	chr4:129880676-129885850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
2	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:
3	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:
4	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374551681	chr4:129880709-129880710	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369907153	chr4:129880728-129880729	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372119418	chr4:129880746-129880747	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566969961	chr4:129880767-129880768	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34546934	chr4:129880770-129880771	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199684444	chr4:129880809-129880810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375186452	chr4:129880812-129880813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201820893	chr4:129880837-129880838	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369384123	chr4:129880853-129880854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576491536	chr4:129880862-129880863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150154545	chr4:129880866-129880867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533835730	chr4:129880893-129880894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138757017	chr4:129880902-129880903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141894698	chr4:129880915-129880916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73847314	chr4:129881097-129881098	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377208336	chr4:129881165-129881166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541774688	chr4:129881166-129881167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560364962	chr4:129881197-129881198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573629860	chr4:129881280-129881281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572148145	chr4:129881291-129881292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1947269	chr4:129881331-129881332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs564262081	chr4:129881375-129881376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556161334	chr4:129881421-129881422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185855098	chr4:129881437-129881438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376914396	chr4:129881457-129881458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73847316	chr4:129881490-129881491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576244549	chr4:129881496-129881497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4975290	chr4:129881527-129881528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72683678	chr4:129881532-129881533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112361373	chr4:129881597-129881598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143635571	chr4:129881682-129881683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567106978	chr4:129881696-129881697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146812092	chr4:129881747-129881748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552396460	chr4:129881750-129881751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189164827	chr4:129881798-129881799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180687850	chr4:129881801-129881802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185994373	chr4:129881834-129881835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34995137	chr4:129881836-129881837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540290197	chr4:129881902-129881903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574116682	chr4:129881903-129881904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535380538	chr4:129881906-129881907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376616502	chr4:129881967-129881968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572343097	chr4:129881983-129881984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560216969	chr4:129882000-129882001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13127734	chr4:129882023-129882024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28541842	chr4:129882060-129882061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71589015	chr4:129882081-129882082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564302988	chr4:129882092-129882093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34599122	chr4:129882101-129882102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34820851	chr4:129882103-129882104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
3	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:129845800-129907200	Weak transcription	Ovary	ovary
12	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:129855200-129907800	Weak transcription	K562	blood
14	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
15	chr4:129856400-129907200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:129858600-129891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:129861000-129907200	Weak transcription	Thymus	Thymus
18	chr4:129862400-129881600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
20	chr4:129863400-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:129863600-129892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:129863800-129888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129864000-129882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:129864000-129882800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:129864000-129895400	Weak transcription	NHLF	lung
26	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:129864200-129895400	Weak transcription	Fetal Lung	lung
28	chr4:129864400-129882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:129864400-129885400	Weak transcription	HMEC	breast
30	chr4:129864400-129901000	Weak transcription	A549	lung
31	chr4:129864600-129888200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:129865600-129907200	Weak transcription	Pancreas	Pancrea
33	chr4:129866400-129888600	Weak transcription	NH-A	brain
34	chr4:129866400-129888800	Weak transcription	Brain Germinal Matrix	brain
35	chr4:129866400-129907600	Weak transcription	Small Intestine	intestine
36	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
37	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
38	chr4:129867000-129907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:129868200-129882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:129868200-129935600	Weak transcription	HSMM	muscle
41	chr4:129868400-129888000	Weak transcription	Left Ventricle	heart
42	chr4:129868400-129888600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:129868400-129890000	Weak transcription	Fetal Stomach	stomach
44	chr4:129868600-129888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:129868600-129889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:129868600-129895000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:129868600-129907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:129868600-129907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:129868600-129907200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:129868600-129907400	Weak transcription	Primary T cells fromperipheralblood	blood

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