Variant report

Variant	nsv1002399
Chromosome Location	chr4:98562308-98690410
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
2	chr4:98562115..98565020-chr4:98567699..98570313,2	MCF-7	breast:
3	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
4	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
5	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:
6	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
7	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
8	chr4:97091475..97092009-chr4:98641981..98642501,2	MCF-7	breast:
9	chr4:98562115..98565020-chr4:98567699..98570313,2	MCF-7	breast:
10	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:
11	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN5-3	chr4:98633850-98633965	NONHSAT097477

No data

Extended variants
information (count: 1390 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543356744	chr4:98564108-98564109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181881695	chr4:98564115-98564116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570015851	chr4:98564119-98564120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148697782	chr4:98564134-98564135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142875813	chr4:98564172-98564173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559225488	chr4:98564203-98564204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533057268	chr4:98564218-98564219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147421987	chr4:98564240-98564241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569332221	chr4:98564251-98564252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185190245	chr4:98564264-98564265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552104200	chr4:98564327-98564328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190482572	chr4:98564407-98564408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182187521	chr4:98564416-98564417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184975406	chr4:98564419-98564420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577997805	chr4:98564445-98564446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539143287	chr4:98564547-98564548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75825288	chr4:98564574-98564575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374763845	chr4:98564588-98564589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200658341	chr4:98564603-98564604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140115807	chr4:98564604-98564605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575740630	chr4:98564629-98564630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189629942	chr4:98564664-98564665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180970772	chr4:98564684-98564685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574421633	chr4:98564734-98564735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185455431	chr4:98564745-98564746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191192286	chr4:98564775-98564776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367678415	chr4:98564805-98564806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554765106	chr4:98564858-98564859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13138388	chr4:98564881-98564882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373945866	chr4:98564953-98564954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183778871	chr4:98565632-98565633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35571241	chr4:98565633-98565634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540945390	chr4:98565658-98565659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558850847	chr4:98565743-98565744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577401907	chr4:98565782-98565783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72890879	chr4:98565805-98565806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73834107	chr4:98565836-98565837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530436218	chr4:98565852-98565853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530530172	chr4:98565863-98565864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72617712	chr4:98565887-98565888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188016531	chr4:98565891-98565892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376322185	chr4:98565902-98565903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546905928	chr4:98565987-98565988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150968655	chr4:98565992-98565993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191379454	chr4:98566011-98566012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551086966	chr4:98566082-98566083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183968577	chr4:98566113-98566114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187000757	chr4:98566143-98566144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192730718	chr4:98566194-98566195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566874208	chr4:98566208-98566209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98564000-98564600	Enhancers	NHEK	skin
2	chr4:98564000-98564800	Enhancers	HUVEC	blood vessel
3	chr4:98564000-98565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:98565600-98565800	Enhancers	Fetal Lung	lung
5	chr4:98565800-98566400	Weak transcription	Fetal Lung	lung
6	chr4:98566000-98567000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:98566000-98567200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:98566400-98567200	Enhancers	Fetal Lung	lung
9	chr4:98566600-98567000	Enhancers	Fetal Heart	heart
10	chr4:98566600-98567200	Enhancers	Fetal Muscle Leg	muscle
11	chr4:98567200-98568200	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:98567200-98568800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:98568200-98568800	Enhancers	Colon Smooth Muscle	Colon
14	chr4:98568400-98569000	Enhancers	Fetal Brain Female	brain
15	chr4:98568400-98569000	Enhancers	Fetal Stomach	stomach
16	chr4:98568400-98569000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:98568600-98569200	Enhancers	Psoas Muscle	Psoas
18	chr4:98568800-98569400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:98572800-98573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:98573200-98574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:98574200-98574400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:98574400-98574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:98574800-98575200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:98574800-98575200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:98575000-98575200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:98575200-98585200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:98575400-98577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:98576200-98577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:98576400-98577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:98576400-98577800	Enhancers	NHEK	skin
31	chr4:98576600-98577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:98576600-98577800	Enhancers	HMEC	breast
33	chr4:98576800-98577600	Enhancers	A549	lung
34	chr4:98576800-98577800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:98576800-98577800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:98577200-98577600	Enhancers	NH-A	brain
37	chr4:98577200-98577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:98577400-98577800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:98579800-98586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:98585200-98585400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:98586000-98587200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:98586200-98587400	ZNF genes & repeats	Dnd41	blood
43	chr4:98586400-98587000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:98586400-98587200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:98586400-98587400	ZNF genes & repeats	Liver	Liver
46	chr4:98586600-98587400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:98586800-98587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:98586800-98587200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:98587400-98589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:98593800-98594000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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