Variant report

Variant	nsv461593
Chromosome Location	chr4:98597993-98765347
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
2	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
3	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:
4	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
5	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
6	chr4:97091475..97092009-chr4:98641981..98642501,2	MCF-7	breast:
7	chr4:98600978..98604672-chr4:98609268..98612042,3	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: 1391 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1391 , 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	rs148404861	chr4:98607401-98607402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs70953081	chr4:98607402-98607403	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs397994644	chr4:98607422-98607423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62316485	chr4:98607426-98607427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567196839	chr4:98607455-98607456	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79599820	chr4:98607489-98607490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536421263	chr4:98607535-98607536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534119586	chr4:98607611-98607612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148826975	chr4:98607639-98607640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534066396	chr4:98607651-98607652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182928870	chr4:98607667-98607668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576777925	chr4:98607676-98607677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537856385	chr4:98607732-98607733	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577013644	chr4:98607774-98607775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556781172	chr4:98607797-98607798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192144378	chr4:98612052-98612053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553473115	chr4:98612061-98612062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542986210	chr4:98612111-98612112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147785076	chr4:98612142-98612143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545057671	chr4:98612194-98612195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577674402	chr4:98612231-98612232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115238039	chr4:98612281-98612282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369065405	chr4:98612417-98612418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543258266	chr4:98612452-98612453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561262554	chr4:98612482-98612483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528634791	chr4:98612519-98612520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546818919	chr4:98612524-98612525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140864099	chr4:98612549-98612550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184512463	chr4:98612568-98612569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78438172	chr4:98612582-98612583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114913032	chr4:98612585-98612586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142545383	chr4:98612612-98612613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189422166	chr4:98612632-98612633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10014158	chr4:98612677-98612678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555599649	chr4:98612742-98612743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181468835	chr4:98612748-98612749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534785156	chr4:98612800-98612801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184269927	chr4:98612801-98612802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78867832	chr4:98612810-98612811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578137062	chr4:98612830-98612831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545530459	chr4:98612882-98612883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557176194	chr4:98612890-98612891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575552656	chr4:98612907-98612908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542677599	chr4:98612952-98612953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561225384	chr4:98612956-98612957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528795069	chr4:98612968-98612969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143336469	chr4:98613004-98613005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34754778	chr4:98613034-98613035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565187017	chr4:98613065-98613066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532601623	chr4:98613115-98613116	Enhancers	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98607400-98607800	Active TSS	A549	lung
2	chr4:98612000-98613200	Enhancers	Dnd41	blood
3	chr4:98640800-98642000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:98641200-98642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:98641400-98642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:98641600-98642200	Enhancers	Fetal Intestine Small	intestine
7	chr4:98641600-98642600	Enhancers	Dnd41	blood
8	chr4:98641600-98643800	Enhancers	HUVEC	blood vessel
9	chr4:98641800-98642000	Enhancers	Brain Hippocampus Middle	brain
10	chr4:98642000-98642400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:98642000-98642600	Enhancers	Brain Angular Gyrus	brain
12	chr4:98642000-98642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:98642200-98642600	Enhancers	Brain Anterior Caudate	brain
14	chr4:98642200-98642600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:98642400-98642600	Active TSS	Brain Hippocampus Middle	brain
16	chr4:98642600-98643200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:98642800-98643600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:98643200-98643400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:98654400-98657400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:98657400-98657600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:98680000-98684600	Enhancers	HUVEC	blood vessel
22	chr4:98681200-98685000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr4:98682600-98683800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:98683400-98683800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:98684600-98688200	Weak transcription	HUVEC	blood vessel
26	chr4:98685000-98686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:98686400-98687000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:98688200-98688600	Enhancers	HUVEC	blood vessel
29	chr4:98688600-98690800	Weak transcription	HUVEC	blood vessel
30	chr4:98690800-98693200	Enhancers	HUVEC	blood vessel
31	chr4:98691400-98691600	Enhancers	Brain Germinal Matrix	brain
32	chr4:98691400-98691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:98691400-98692000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:98691600-98692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:98691600-98692200	Weak transcription	Brain Germinal Matrix	brain
36	chr4:98692200-98693000	Enhancers	Brain Germinal Matrix	brain
37	chr4:98692600-98693000	ZNF genes & repeats	Pancreas	Pancrea
38	chr4:98692800-98693000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:98693000-98699000	Weak transcription	Pancreas	Pancrea
40	chr4:98694600-98695600	Enhancers	Dnd41	blood
41	chr4:98695600-98696000	Flanking Active TSS	Dnd41	blood
42	chr4:98696000-98696800	Enhancers	Dnd41	blood
43	chr4:98699400-98699600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:98699600-98700000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:98707400-98711200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:98711200-98711800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:98725000-98725400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:98730400-98730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:98730400-98730800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:98730800-98732000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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