Variant report

Variant	nsv428484
Chromosome Location	chr6:67084126-67234125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67131208..67132088-chr6:67206455..67207593,4	MCF-7	breast:
2	chr6:67154196..67156663-chr6:67160167..67162638,2	K562	blood:
3	chr6:31794867..31797168-chr6:67137707..67140399,2	MCF-7	breast:
4	chr6:67131208..67132088-chr6:67206455..67207593,4	MCF-7	breast:
5	chr6:67154196..67156663-chr6:67160167..67162638,2	K562	blood:
6	chr6:67131208..67132075-chr6:67244695..67245464,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204388	chromatin interactions

Extended variants
information (count: 997 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540400542	chr6:67085410-67085411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559107741	chr6:67085418-67085419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549532518	chr6:67085424-67085425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541720323	chr6:67085443-67085444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561653788	chr6:67085477-67085478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140261227	chr6:67085490-67085491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4370344	chr6:67085518-67085519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182219664	chr6:67085561-67085562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534434742	chr6:67089053-67089054	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534232566	chr6:67089074-67089075	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs143990751	chr6:67089077-67089078	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs57871666	chr6:67089129-67089130	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374100092	chr6:67089137-67089138	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs557680989	chr6:67089142-67089143	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577515422	chr6:67089149-67089150	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs577158020	chr6:67089157-67089158	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs546251877	chr6:67089163-67089164	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs562252653	chr6:67090004-67090005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142994676	chr6:67090038-67090039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543632242	chr6:67090044-67090045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563360964	chr6:67090064-67090065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532240971	chr6:67090071-67090072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552063791	chr6:67090073-67090074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558874737	chr6:67090224-67090225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200370046	chr6:67090232-67090233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147340610	chr6:67090233-67090234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60541356	chr6:67090269-67090270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560777101	chr6:67090290-67090291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568181723	chr6:67090293-67090294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537223641	chr6:67090328-67090329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527262211	chr6:67090329-67090330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551124221	chr6:67090340-67090341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571068612	chr6:67090385-67090386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540096077	chr6:67090389-67090390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191751943	chr6:67090473-67090474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151115226	chr6:67090475-67090476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528285576	chr6:67090488-67090489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1634182	chr6:67090527-67090528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575666872	chr6:67090543-67090544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554485495	chr6:67090563-67090564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111358312	chr6:67090587-67090588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76519585	chr6:67090588-67090589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6923869	chr6:67090617-67090618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141064685	chr6:67090648-67090649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184036300	chr6:67090683-67090684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541837123	chr6:67090704-67090705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188894198	chr6:67090708-67090709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191223155	chr6:67090715-67090716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550410504	chr6:67090749-67090750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571056595	chr6:67090778-67090779	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Autism	19287141	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67085400-67085600	Enhancers	Aorta	Aorta
2	chr6:67089000-67089200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:67090000-67090200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:67090200-67091400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:67091400-67091600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:67091600-67091800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:67091600-67092200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:67105600-67106600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:67106000-67106800	Enhancers	Gastric	stomach
10	chr6:67106400-67106800	ZNF genes & repeats	Spleen	Spleen
11	chr6:67137600-67138000	ZNF genes & repeats	Fetal Lung	lung
12	chr6:67138200-67140200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:67138400-67139800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:67138400-67140000	Enhancers	Fetal Lung	lung
15	chr6:67139800-67142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:67140000-67142200	Weak transcription	Fetal Lung	lung
17	chr6:67142200-67142400	Enhancers	Fetal Lung	lung
18	chr6:67142200-67142800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:67142400-67142800	Weak transcription	Fetal Lung	lung
20	chr6:67142800-67143400	Enhancers	Fetal Lung	lung
21	chr6:67174800-67178200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:67177400-67178800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:67177600-67178800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:67178000-67178600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:67178000-67178800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:67178000-67178800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:67178000-67178800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:67178200-67178800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:67178200-67178800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:67178400-67178600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:67198800-67199000	Enhancers	HepG2	liver
32	chr6:67199000-67199600	Flanking Active TSS	HepG2	liver
33	chr6:67199600-67200000	Enhancers	HepG2	liver
34	chr6:67216800-67217200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:67217000-67217200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:67217200-67218200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:67217200-67218200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:67218000-67218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:67218000-67219600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:67218200-67218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:67218200-67218600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:67218200-67218600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:67218200-67218600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:67218200-67218600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:67218200-67218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:67218200-67218800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:67218200-67218800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:67218200-67218800	Enhancers	NH-A	brain
49	chr6:67218600-67219400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:67219400-67219600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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