Variant report

Variant	nsv604567
Chromosome Location	chr6:120535362-120660498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr17:57913954..57915888-chr6:120581005..120582642,2	MCF-7	breast:
3	chr6:120550876..120551654-chr6:120699476..120700307,2	MCF-7	breast:
4	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
5	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
6	chr6:120532090..120534309-chr6:120536894..120539372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1374 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1374 , 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	rs155177	chr6:120535362-120535363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547556609	chr6:120535370-120535371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78790173	chr6:120535374-120535375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529094044	chr6:120535383-120535384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549199422	chr6:120535433-120535434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569131140	chr6:120535464-120535465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141600327	chr6:120535536-120535537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551331497	chr6:120535542-120535543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559220622	chr6:120535545-120535546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112078470	chr6:120535549-120535550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533821667	chr6:120535558-120535559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs155178	chr6:120535629-120535630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573449625	chr6:120535644-120535645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536401482	chr6:120535686-120535687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150811906	chr6:120535703-120535704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367801209	chr6:120535754-120535755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545354312	chr6:120535791-120535792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34608200	chr6:120535808-120535809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397887953	chr6:120535823-120535824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565604576	chr6:120535827-120535828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572339749	chr6:120535847-120535848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112204151	chr6:120535873-120535874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372150095	chr6:120535944-120535945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561315720	chr6:120536012-120536013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530224782	chr6:120536022-120536023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139262481	chr6:120536033-120536034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546565687	chr6:120536041-120536042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7750115	chr6:120536054-120536055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs155179	chr6:120536059-120536060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551372250	chr6:120536068-120536069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571559830	chr6:120536071-120536072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7750254	chr6:120536117-120536118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547373273	chr6:120536220-120536221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145422371	chr6:120536230-120536231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112850350	chr6:120536253-120536254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9401219	chr6:120536264-120536265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183572032	chr6:120536303-120536304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576213663	chr6:120536333-120536334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147687847	chr6:120536381-120536382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73521041	chr6:120536397-120536398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368358808	chr6:120543211-120543212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185937483	chr6:120543237-120543238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190396036	chr6:120543331-120543332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562726785	chr6:120543337-120543338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78215012	chr6:120543401-120543402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545272828	chr6:120543530-120543531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564880060	chr6:120543578-120543579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527290648	chr6:120543596-120543597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184071598	chr6:120543597-120543598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560611707	chr6:120543629-120543630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120534400-120536400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:120535000-120535800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:120535200-120536000	Enhancers	HepG2	liver
4	chr6:120543200-120549200	Weak transcription	HepG2	liver
5	chr6:120549200-120550000	Enhancers	HepG2	liver
6	chr6:120549400-120549600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:120549600-120550400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:120550000-120550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:120550600-120551000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:120560600-120561200	Enhancers	Fetal Lung	lung
11	chr6:120575400-120576000	Enhancers	Fetal Lung	lung
12	chr6:120576000-120579400	Weak transcription	Fetal Lung	lung
13	chr6:120579200-120579800	Enhancers	Fetal Brain Male	brain
14	chr6:120579400-120579600	Enhancers	Fetal Lung	lung
15	chr6:120579600-120580000	Weak transcription	Fetal Lung	lung
16	chr6:120580000-120580800	Enhancers	Fetal Lung	lung
17	chr6:120583400-120583600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:120594400-120596000	Enhancers	Fetal Lung	lung
19	chr6:120595200-120596400	Enhancers	Primary B cells from cord blood	blood
20	chr6:120595200-120596400	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:120596000-120599200	Weak transcription	Fetal Lung	lung
22	chr6:120598000-120598400	Enhancers	Fetal Brain Female	brain
23	chr6:120598200-120600400	Enhancers	Fetal Brain Male	brain
24	chr6:120598400-120600000	Weak transcription	Fetal Brain Female	brain
25	chr6:120599000-120599200	Enhancers	Fetal Heart	heart
26	chr6:120599200-120600000	Enhancers	Fetal Lung	lung
27	chr6:120599200-120600200	Weak transcription	Fetal Heart	heart
28	chr6:120599600-120600000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:120599800-120600200	Enhancers	Fetal Muscle Leg	muscle
30	chr6:120599800-120600400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:120600000-120600400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:120600000-120600800	Weak transcription	Fetal Lung	lung
33	chr6:120600000-120601400	Enhancers	Fetal Brain Female	brain
34	chr6:120600200-120600600	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:120600200-120601400	Enhancers	Fetal Heart	heart
36	chr6:120600400-120600800	Weak transcription	Fetal Brain Male	brain
37	chr6:120600600-120601200	Enhancers	Fetal Muscle Leg	muscle
38	chr6:120600800-120601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:120600800-120601200	Enhancers	Fetal Lung	lung
40	chr6:120600800-120601400	Enhancers	Fetal Brain Male	brain
41	chr6:120617600-120619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:120617800-120618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:120618000-120618200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:120618000-120619000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:120618200-120618600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:120618200-120618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:120618400-120619200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:120618400-120619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:120618600-120619000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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