Variant report

Variant	nsv1029402
Chromosome Location	chr4:189114332-189151305
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	chr2:190420060..190420825-chr4:189116929..189117774,2	MCF-7	breast:
2	chr4:189039532..189042082-chr4:189115720..189117330,2	MCF-7	breast:

Extended variants
information (count: 1845 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1845 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533937476	chr4:189114346-189114347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553939842	chr4:189114364-189114365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149322730	chr4:189114457-189114458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188193605	chr4:189114458-189114459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71607990	chr4:189114485-189114486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562749523	chr4:189114491-189114492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199501614	chr4:189114562-189114563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67452853	chr4:189114563-189114564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192552167	chr4:189114567-189114568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184881860	chr4:189114609-189114610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386683757	chr4:189114611-189114612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116557990	chr4:189114612-189114613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564013410	chr4:189114613-189114614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533078331	chr4:189114617-189114618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552496535	chr4:189114620-189114621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201505741	chr4:189114621-189114622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386683758	chr4:189114622-189114623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10213527	chr4:189114624-189114625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534762595	chr4:189114625-189114626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188465795	chr4:189114630-189114631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144610503	chr4:189114631-189114632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191337573	chr4:189114632-189114633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80309780	chr4:189114646-189114647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369045530	chr4:189114656-189114657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565783371	chr4:189114657-189114658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554164221	chr4:189114659-189114660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60920142	chr4:189114670-189114671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60795423	chr4:189114671-189114672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376480002	chr4:189114677-189114678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370893919	chr4:189114678-189114679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542064842	chr4:189114701-189114702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184909381	chr4:189114703-189114704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60713544	chr4:189114708-189114709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71642065	chr4:189114710-189114711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189900903	chr4:189114713-189114714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367836111	chr4:189114715-189114716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532877760	chr4:189114719-189114720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34021562	chr4:189114726-189114727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398064396	chr4:189114729-189114730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28585684	chr4:189114743-189114744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563049147	chr4:189114750-189114751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57033580	chr4:189114756-189114757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70940918	chr4:189114776-189114777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77039812	chr4:189114783-189114784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115412005	chr4:189114819-189114820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372418482	chr4:189114824-189114825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548407228	chr4:189114849-189114850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568391545	chr4:189114850-189114851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574641822	chr4:189114853-189114854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528024036	chr4:189114915-189114916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Cognitive impairment	21505072	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	20808228	CNVD
Epilepsy	21635232	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:189105200-189117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:189112200-189116800	Weak transcription	Osteobl	bone
3	chr4:189112600-189116600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:189112600-189117000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:189115600-189117000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:189116600-189117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:189116600-189117200	Enhancers	Brain Substantia Nigra	brain
8	chr4:189116600-189117200	Enhancers	Fetal Muscle Leg	muscle
9	chr4:189116600-189117600	Enhancers	Fetal Lung	lung
10	chr4:189116800-189117000	Enhancers	Aorta	Aorta
11	chr4:189116800-189117200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:189116800-189117200	Enhancers	Brain Hippocampus Middle	brain
13	chr4:189116800-189117200	Enhancers	Fetal Heart	heart
14	chr4:189116800-189117200	Enhancers	Osteobl	bone
15	chr4:189116800-189117400	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:189116800-189117400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:189116800-189118000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:189117000-189117200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:189117000-189117400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:189117000-189117600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:189117000-189117600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:189117000-189117600	Active TSS	Aorta	Aorta
23	chr4:189117000-189117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:189117200-189117600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:189117200-189117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:189117200-189117600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:189117200-189117600	Active TSS	Osteobl	bone
28	chr4:189117200-189117800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:189117200-189117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:189117200-189117800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:189117200-189118000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:189117200-189120200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:189117400-189117600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:189117400-189117600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr4:189117400-189117800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:189117400-189117800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr4:189117400-189117800	Enhancers	HMEC	breast
38	chr4:189117400-189118000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:189117600-189117800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr4:189117600-189117800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:189117600-189120200	Weak transcription	Osteobl	bone
42	chr4:189117600-189120400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:189117600-189120400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:189117600-189120600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:189117800-189120000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:189117800-189120200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:189117800-189120200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:189117800-189120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:189118000-189118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:189118000-189120400	Weak transcription	H1 Cell Line	embryonic stem cell

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