Variant report

Variant	nsv1020329
Chromosome Location	chr6:54103966-54129147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56708364..56710438-chr6:54107125..54109891,2	MCF-7	breast:
2	chr6:53850708..53851695-chr6:54108679..54109745,3	MCF-7	breast:
3	chr6:54108891..54109489-chr6:54132720..54133570,3	MCF-7	breast:
4	chr6:54108947..54109656-chr6:54132424..54133064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1051 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386701273	chr6:54103966-54103967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73741487	chr6:54103975-54103976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375749925	chr6:54103977-54103978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12201557	chr6:54104019-54104020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12111512	chr6:54104028-54104029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12215211	chr6:54104029-54104030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188584816	chr6:54104034-54104035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181157099	chr6:54104078-54104079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551914645	chr6:54104097-54104098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565556032	chr6:54104123-54104124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575812081	chr6:54104165-54104166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9395918	chr6:54104166-54104167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562834906	chr6:54104168-54104169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566597456	chr6:54104190-54104191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373335195	chr6:54104191-54104192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115438878	chr6:54104200-54104201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78465805	chr6:54104211-54104212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114481088	chr6:54104280-54104281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143632249	chr6:54104308-54104309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371797106	chr6:54104310-54104311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576620585	chr6:54104372-54104373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12195488	chr6:54104377-54104378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558602403	chr6:54104392-54104393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184224351	chr6:54104406-54104407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188899630	chr6:54104460-54104461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181881791	chr6:54104469-54104470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574744517	chr6:54104471-54104472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367958677	chr6:54104540-54104541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540916933	chr6:54104558-54104559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77818915	chr6:54104559-54104560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532731384	chr6:54104562-54104563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148090013	chr6:54104576-54104577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141984325	chr6:54104577-54104578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576971634	chr6:54104597-54104598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575220785	chr6:54104598-54104599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117909058	chr6:54104630-54104631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373156410	chr6:54104639-54104640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78304822	chr6:54104656-54104657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78105684	chr6:54104688-54104689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75523603	chr6:54104695-54104696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559164505	chr6:54104711-54104712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547333384	chr6:54104717-54104718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376702307	chr6:54104783-54104784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373010905	chr6:54104807-54104808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187182024	chr6:54104852-54104853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539366775	chr6:54104879-54104880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138950260	chr6:54104894-54104895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572706098	chr6:54104953-54104954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201487708	chr6:54104966-54104967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538290912	chr6:54104996-54104997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54101000-54119800	Weak transcription	Right Ventricle	heart
2	chr6:54101400-54120800	Weak transcription	Psoas Muscle	Psoas
3	chr6:54102000-54104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:54102200-54119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54102600-54108400	Weak transcription	Left Ventricle	heart
6	chr6:54102800-54104000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:54103000-54104000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:54103000-54104000	Enhancers	Adipose Nuclei	Adipose
9	chr6:54103000-54104000	Enhancers	Colon Smooth Muscle	Colon
10	chr6:54103000-54104000	Enhancers	Fetal Heart	heart
11	chr6:54103000-54104000	Enhancers	Fetal Lung	lung
12	chr6:54103000-54104000	Enhancers	NHDF-Ad	bronchial
13	chr6:54103200-54104000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:54103200-54104000	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:54103400-54104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:54103400-54104200	Enhancers	Fetal Muscle Leg	muscle
17	chr6:54103600-54104000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:54104000-54107000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:54104000-54108600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:54104000-54108600	Weak transcription	Fetal Heart	heart
21	chr6:54104000-54108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:54104000-54119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:54104200-54110200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:54104200-54120800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:54107000-54107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:54107200-54107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:54107600-54108800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:54108400-54108800	Enhancers	Left Ventricle	heart
29	chr6:54108600-54109000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:54108600-54109000	Enhancers	Fetal Heart	heart
31	chr6:54108800-54111200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:54108800-54112200	Weak transcription	Left Ventricle	heart
33	chr6:54109000-54109200	Weak transcription	Fetal Heart	heart
34	chr6:54109200-54109800	Enhancers	Fetal Heart	heart
35	chr6:54109800-54110200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:54109800-54110200	Enhancers	Fetal Intestine Large	intestine
37	chr6:54109800-54110400	Enhancers	Fetal Intestine Small	intestine
38	chr6:54109800-54119600	Weak transcription	Fetal Heart	heart
39	chr6:54110200-54110400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:54112200-54112800	Strong transcription	Left Ventricle	heart
41	chr6:54112800-54121000	Weak transcription	Left Ventricle	heart
42	chr6:54119600-54120200	Enhancers	HUVEC	blood vessel
43	chr6:54119600-54121600	Enhancers	Fetal Heart	heart
44	chr6:54119800-54120000	Enhancers	Right Atrium	heart
45	chr6:54119800-54120000	Enhancers	Stomach Smooth Muscle	stomach
46	chr6:54119800-54120200	Enhancers	Right Ventricle	heart
47	chr6:54119800-54120800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:54119800-54121800	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:54119800-54121800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:54120000-54121000	Weak transcription	Right Atrium	heart

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