Variant report

Variant	nsv879637
Chromosome Location	chr4:97563218-97685296
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:64742113..64742693-chr4:97580731..97581568,2	MCF-7	breast:
2	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
3	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
4	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
5	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
6	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
7	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
8	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
9	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:

No data

Extended variants
information (count: 2063 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2063 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10033633	chr4:97563218-97563219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72689730	chr4:97563373-97563374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530630164	chr4:97563387-97563388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560975774	chr4:97563410-97563411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548831445	chr4:97563447-97563448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540104621	chr4:97563476-97563477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567244819	chr4:97563492-97563493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140659564	chr4:97563494-97563495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149138891	chr4:97563511-97563512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553078539	chr4:97563523-97563524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571654632	chr4:97563558-97563559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538751947	chr4:97563581-97563582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557430103	chr4:97563583-97563584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112124734	chr4:97563604-97563605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62315765	chr4:97563650-97563651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536850090	chr4:97563677-97563678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373519077	chr4:97563748-97563749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72689731	chr4:97563751-97563752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573554414	chr4:97563756-97563757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116515201	chr4:97563757-97563758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13128646	chr4:97563761-97563762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577571880	chr4:97563793-97563794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544739993	chr4:97563921-97563922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563414893	chr4:97563951-97563952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111674642	chr4:97563962-97563963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188739140	chr4:97563995-97563996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116051803	chr4:97564087-97564088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181537712	chr4:97564089-97564090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560784954	chr4:97564097-97564098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377634101	chr4:97564100-97564101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141679903	chr4:97564102-97564103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546919959	chr4:97564105-97564106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377556990	chr4:97564135-97564136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147055852	chr4:97564161-97564162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571536588	chr4:97564168-97564169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573895512	chr4:97564170-97564171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372001297	chr4:97564171-97564172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572741208	chr4:97564176-97564177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186005855	chr4:97564179-97564180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376606987	chr4:97569600-97569601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs67368316	chr4:97569606-97569607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60184375	chr4:97569607-97569608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201854177	chr4:97569608-97569609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28399263	chr4:97569612-97569613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376893850	chr4:97569615-97569616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28546823	chr4:97569619-97569620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28439210	chr4:97569623-97569624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138568380	chr4:97569628-97569629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139420746	chr4:97569639-97569640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60766533	chr4:97569651-97569652	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Chronic lymphocytic leukemia	20421269	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	22037309	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97563000-97564000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:97563400-97564200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:97563600-97564000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:97563600-97564200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:97563600-97564200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:97563600-97564200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:97563600-97564200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:97563600-97564200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:97563600-97564200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:97569600-97571800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:97570000-97571400	Enhancers	HUVEC	blood vessel
12	chr4:97570000-97571800	Enhancers	Dnd41	blood
13	chr4:97570200-97571600	Enhancers	NH-A	brain
14	chr4:97570600-97571800	Enhancers	Fetal Intestine Small	intestine
15	chr4:97570800-97571400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:97571800-97574200	Weak transcription	Dnd41	blood
17	chr4:97573400-97573600	Enhancers	NH-A	brain
18	chr4:97574200-97575400	ZNF genes & repeats	Dnd41	blood
19	chr4:97574200-97575600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:97574200-97575600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:97575400-97575600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:97575600-97577400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:97576200-97577200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:97576400-97576800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:97576400-97577400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:97591600-97592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:97593400-97593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:97595400-97599200	Enhancers	HUVEC	blood vessel
29	chr4:97596200-97597600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:97596600-97597600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:97596600-97597600	Enhancers	NH-A	brain
32	chr4:97597600-97598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:97597600-97598600	Weak transcription	NH-A	brain
34	chr4:97598400-97599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:97598600-97598800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:97598600-97599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:97598600-97599000	Enhancers	NH-A	brain
39	chr4:97599000-97603400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:97603400-97603800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:97611200-97611400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:97611400-97612200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:97612200-97613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:97613000-97618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:97618800-97619000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:97619000-97619800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:97619800-97620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:97619800-97620600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:97619800-97620600	Enhancers	Brain Germinal Matrix	brain
50	chr4:97619800-97620800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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