Variant report

Variant	nsv1028105
Chromosome Location	chr4:149199913-149284620
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:149205446..149206306-chr4:149625053..149625721,2	MCF-7	breast:
2	chr4:149225536..149228131-chr4:149228809..149230483,2	K562	blood:
3	chr4:149225536..149228131-chr4:149228809..149230483,2	K562	blood:
4	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
5	chr4:149205433..149206356-chr4:149335966..149337295,4	MCF-7	breast:
6	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
7	chr4:149213309..149216201-chr4:149362737..149365342,2	MCF-7	breast:
8	chr4:149284454..149286558-chr4:149363664..149365352,2	MCF-7	breast:
9	chr4:149205477..149206318-chr4:149336392..149337741,3	MCF-7	breast:
10	chr4:149205489..149206358-chr4:149952203..149952753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151623	chromatin interactions

Extended variants
information (count: 3330 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3330 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369828421	chr4:149199923-149199924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183804832	chr4:149199968-149199969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62332043	chr4:149200040-149200041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144385152	chr4:149200056-149200057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531811958	chr4:149200080-149200081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188292046	chr4:149200094-149200095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192385635	chr4:149200112-149200113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527958257	chr4:149200142-149200143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146589222	chr4:149200143-149200144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141296325	chr4:149200165-149200166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536204487	chr4:149200176-149200177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144989984	chr4:149200179-149200180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561935347	chr4:149200187-149200188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6833414	chr4:149200207-149200208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369042582	chr4:149200255-149200256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558769019	chr4:149200275-149200276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572332586	chr4:149200276-149200277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13138913	chr4:149200309-149200310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554176188	chr4:149200334-149200335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35681147	chr4:149200365-149200366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573713807	chr4:149200400-149200401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562661820	chr4:149200504-149200505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573945248	chr4:149200505-149200506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569585633	chr4:149200558-149200559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183672597	chr4:149200567-149200568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536812489	chr4:149200576-149200577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186663804	chr4:149200587-149200588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573508586	chr4:149200639-149200640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369596844	chr4:149200640-149200641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541225029	chr4:149200654-149200655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77989049	chr4:149200704-149200705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529734939	chr4:149200784-149200785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370778180	chr4:149200803-149200804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534022689	chr4:149200908-149200909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549769291	chr4:149200938-149200939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191460818	chr4:149200961-149200962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6852213	chr4:149200970-149200971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577126786	chr4:149201002-149201003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72655271	chr4:149201022-149201023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563409749	chr4:149201061-149201062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565725243	chr4:149201082-149201083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72655272	chr4:149201100-149201101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377671951	chr4:149201119-149201120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72655273	chr4:149201129-149201130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536285008	chr4:149201144-149201145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556117907	chr4:149201167-149201168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183588161	chr4:149201222-149201223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143666404	chr4:149201260-149201261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187141449	chr4:149201296-149201297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572556848	chr4:149201308-149201309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149192400-149209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:149194400-149216400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:149195000-149204200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:149195200-149203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:149195200-149207600	Weak transcription	Brain Angular Gyrus	brain
6	chr4:149195600-149203200	Weak transcription	Right Ventricle	heart
7	chr4:149195600-149203600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:149195600-149204000	Weak transcription	Brain Anterior Caudate	brain
9	chr4:149195800-149203600	Weak transcription	Liver	Liver
10	chr4:149195800-149205000	Weak transcription	Gastric	stomach
11	chr4:149196200-149203800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:149196800-149202800	Weak transcription	Fetal Heart	heart
13	chr4:149196800-149209600	Weak transcription	Pancreas	Pancrea
14	chr4:149197400-149203800	Weak transcription	Stomach Mucosa	stomach
15	chr4:149198000-149203200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:149199200-149203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:149199600-149209600	Weak transcription	Left Ventricle	heart
18	chr4:149199800-149203600	Weak transcription	Psoas Muscle	Psoas
19	chr4:149202600-149203200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:149202800-149206600	Enhancers	Fetal Heart	heart
21	chr4:149203200-149203400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:149203200-149204400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:149203200-149206000	Enhancers	Fetal Intestine Large	intestine
24	chr4:149203200-149206400	Enhancers	Right Ventricle	heart
25	chr4:149203400-149203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:149203600-149204200	Enhancers	Psoas Muscle	Psoas
27	chr4:149203600-149204200	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:149203600-149204400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:149203600-149204400	Enhancers	Brain Hippocampus Middle	brain
30	chr4:149203600-149204400	Enhancers	Ovary	ovary
31	chr4:149203600-149204600	Enhancers	Liver	Liver
32	chr4:149203600-149204800	Enhancers	Fetal Intestine Small	intestine
33	chr4:149203600-149205000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:149203600-149205400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:149203600-149205600	Enhancers	Adipose Nuclei	Adipose
36	chr4:149203600-149206400	Enhancers	Fetal Lung	lung
37	chr4:149203600-149206400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:149203600-149207000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:149203800-149204000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:149203800-149204200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:149203800-149204200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr4:149203800-149204200	Enhancers	Right Atrium	heart
43	chr4:149203800-149204400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:149203800-149204600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:149203800-149204800	Enhancers	Small Intestine	intestine
46	chr4:149203800-149205200	Enhancers	Stomach Mucosa	stomach
47	chr4:149203800-149205800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:149203800-149206200	Enhancers	Colon Smooth Muscle	Colon
49	chr4:149204000-149204200	Enhancers	Colonic Mucosa	Colon
50	chr4:149204000-149204400	Enhancers	Brain Anterior Caudate	brain

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