Variant report

Variant	nsv1020418
Chromosome Location	chr6:63948220-63991027
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:63948917..63949801-chr6:64200742..64201532,2	MCF-7	breast:
2	chr6:63971090..63973718-chr6:63975676..63978605,2	K562	blood:
3	chr6:63986059..63987926-chr6:63989069..63990870,2	MCF-7	breast:
4	chr6:63831166..63831711-chr6:63982020..63982633,2	MCF-7	breast:
5	chr6:63981136..63982738-chr6:63987932..63990563,2	MCF-7	breast:
6	chr6:63775743..63776456-chr6:63981994..63982859,3	MCF-7	breast:
7	chr6:63601380..63602369-chr6:63983063..63983726,2	MCF-7	breast:
8	chr6:63981136..63982738-chr6:63987932..63990563,2	MCF-7	breast:
9	chr6:63971090..63973718-chr6:63975676..63978605,2	K562	blood:
10	chr6:63986059..63987926-chr6:63989069..63990870,2	MCF-7	breast:

No data

Extended variants
information (count: 1183 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1183 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183235565	chr6:63948251-63948252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544013929	chr6:63948255-63948256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16894193	chr6:63948305-63948306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533105218	chr6:63948325-63948326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544670218	chr6:63948328-63948329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568731910	chr6:63948356-63948357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527374553	chr6:63948361-63948362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79587136	chr6:63948363-63948364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112423480	chr6:63948402-63948403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529467881	chr6:63948409-63948410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551197707	chr6:63948494-63948495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114225216	chr6:63948510-63948511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138810493	chr6:63948544-63948545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551466588	chr6:63948547-63948548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556925695	chr6:63948574-63948575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185500601	chr6:63948611-63948612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555403249	chr6:63948634-63948635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573801646	chr6:63948643-63948644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141362126	chr6:63948652-63948653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555981377	chr6:63948667-63948668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577844105	chr6:63948675-63948676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12661897	chr6:63948705-63948706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560208919	chr6:63948764-63948765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111957523	chr6:63948789-63948790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542266089	chr6:63948876-63948877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374837401	chr6:63949009-63949010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560917817	chr6:63949011-63949012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375839956	chr6:63949030-63949031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551185312	chr6:63949044-63949045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575363765	chr6:63949052-63949053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571975423	chr6:63949107-63949108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563107122	chr6:63949115-63949116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10755381	chr6:63949167-63949168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563118929	chr6:63949189-63949190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567063468	chr6:63949258-63949259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534151962	chr6:63949267-63949268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549015587	chr6:63949299-63949300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567414624	chr6:63949325-63949326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113748751	chr6:63949345-63949346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555919670	chr6:63949363-63949364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137990344	chr6:63949386-63949387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554732733	chr6:63949426-63949427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538470872	chr6:63949446-63949447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553992559	chr6:63949456-63949457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149446603	chr6:63949505-63949506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542639238	chr6:63949514-63949515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371035500	chr6:63949520-63949521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186742173	chr6:63949558-63949559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543568481	chr6:63949646-63949647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564990380	chr6:63949669-63949670	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63947200-63949600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63949600-63951000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63955400-63955600	Enhancers	Fetal Brain Male	brain
4	chr6:63955800-63957200	Weak transcription	Fetal Brain Male	brain
5	chr6:63957200-63957800	Enhancers	Fetal Brain Male	brain
6	chr6:63959600-63960600	Enhancers	Liver	Liver
7	chr6:63960000-63960200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr6:63960000-63960800	Enhancers	Fetal Intestine Large	intestine
9	chr6:63960800-63961200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:63961200-63962000	Enhancers	Fetal Intestine Large	intestine
11	chr6:63967200-63969200	Enhancers	Stomach Mucosa	stomach
12	chr6:63967600-63967800	Enhancers	Aorta	Aorta
13	chr6:63967800-63968600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:63967800-63968600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:63967800-63968600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:63968200-63968400	Enhancers	Fetal Heart	heart
17	chr6:63968200-63968600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:63968600-63972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:63968600-63972800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:63968600-63973200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:63968800-63971800	Weak transcription	Fetal Heart	heart
22	chr6:63969000-63969400	Enhancers	Liver	Liver
23	chr6:63969200-63970200	Weak transcription	Stomach Mucosa	stomach
24	chr6:63970200-63970600	Enhancers	Stomach Mucosa	stomach
25	chr6:63970600-63973000	Weak transcription	Stomach Mucosa	stomach
26	chr6:63971800-63973400	Enhancers	Fetal Heart	heart
27	chr6:63972200-63973800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:63972400-63973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:63972400-63973000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:63972400-63973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:63972400-63973800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:63972600-63973000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:63972600-63974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:63972800-63973800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:63972800-63973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:63972800-63973800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:63972800-63973800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:63972800-63974000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:63973000-63973600	Enhancers	Stomach Mucosa	stomach
40	chr6:63973000-63973800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:63973000-63979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:63973000-63979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:63973200-63973600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:63973200-63973800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr6:63973200-63974000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:63973400-63973800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:63973400-63973800	Enhancers	Hela-S3	cervix
48	chr6:63973400-63978200	Weak transcription	Fetal Heart	heart
49	chr6:63973600-63976800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:63973800-63975800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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