Variant report

Variant	nsv594919
Chromosome Location	chr4:97627739-97688309
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	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
2	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:

Extended variants
information (count: 921 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533370841	chr4:97634074-97634075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182755720	chr4:97634156-97634157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570174998	chr4:97634182-97634183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76796850	chr4:97634213-97634214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555952330	chr4:97634221-97634222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567781787	chr4:97634266-97634267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186484106	chr4:97634284-97634285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556024759	chr4:97634293-97634294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574167203	chr4:97634306-97634307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553258322	chr4:97634322-97634323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116192446	chr4:97634393-97634394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375046704	chr4:97634432-97634433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557422557	chr4:97634457-97634458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372565823	chr4:97634477-97634478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118053130	chr4:97634506-97634507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543175977	chr4:97634561-97634562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191303084	chr4:97634565-97634566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182938828	chr4:97634566-97634567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529087979	chr4:97634584-97634585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541282478	chr4:97634618-97634619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563042550	chr4:97634626-97634627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559732673	chr4:97634629-97634630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150630766	chr4:97634644-97634645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551836886	chr4:97634649-97634650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564715318	chr4:97634672-97634673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6820149	chr4:97634673-97634674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545038800	chr4:97634684-97634685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13133806	chr4:97634701-97634702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527805711	chr4:97634708-97634709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72671960	chr4:97634735-97634736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187574959	chr4:97634778-97634779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534890374	chr4:97634784-97634785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139571201	chr4:97634808-97634809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192384930	chr4:97634882-97634883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539030017	chr4:97634883-97634884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557303595	chr4:97634887-97634888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575964292	chr4:97634906-97634907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183391487	chr4:97634944-97634945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555174403	chr4:97634952-97634953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113996747	chr4:97634967-97634968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541270060	chr4:97634993-97634994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545170196	chr4:97648016-97648017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563483331	chr4:97648037-97648038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570365574	chr4:97648201-97648202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547016123	chr4:97648204-97648205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575420661	chr4:97648225-97648226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568582547	chr4:97648245-97648246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200115854	chr4:97648259-97648260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561168049	chr4:97648273-97648274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535564844	chr4:97648292-97648293	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	22037309	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97634000-97635000	Enhancers	HUVEC	blood vessel
2	chr4:97634600-97635000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:97648000-97648400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:97650400-97651800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:97650400-97653000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:97650600-97650800	Enhancers	Brain Germinal Matrix	brain
7	chr4:97650600-97651000	Enhancers	Pancreas	Pancrea
8	chr4:97650600-97651200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:97650600-97651400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr4:97650800-97652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:97651400-97651600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:97651400-97651600	Enhancers	Brain Germinal Matrix	brain
13	chr4:97651800-97654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:97654000-97655200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:97654200-97656600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr4:97654200-97656800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr4:97654400-97655000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr4:97654400-97655000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:97654400-97655000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:97654600-97655000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:97654800-97655000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:97655000-97656200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:97655000-97663600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:97655000-97663600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:97655000-97664400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:97656600-97657400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:97656800-97657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:97657200-97657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:97657200-97657800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:97657200-97657800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:97657200-97658400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:97657200-97658800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:97657400-97657600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:97657400-97657800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:97657400-97657800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:97657400-97657800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:97657400-97657800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:97657400-97657800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:97657400-97657800	Enhancers	HMEC	breast
40	chr4:97657400-97657800	Enhancers	NH-A	brain
41	chr4:97657400-97658000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:97657400-97658000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:97657400-97658600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:97657600-97657800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:97657600-97658000	Enhancers	HUVEC	blood vessel
46	chr4:97657800-97659000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:97657800-97659600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:97657800-97659600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:97658600-97658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:97658800-97659400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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