Variant report

Variant	nsv601145
Chromosome Location	chr6:24052526-24080370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24064018..24065690-chr6:24204899..24205799,9	MCF-7	breast:
2	chr6:24064474..24065410-chr6:24274945..24275686,3	MCF-7	breast:
3	chr6:24052796..24054479-chr6:24058448..24061278,2	MCF-7	breast:
4	chr6:24064097..24064858-chr6:24204874..24205897,5	MCF-7	breast:
5	chr6:24052796..24054479-chr6:24058448..24061278,2	MCF-7	breast:
6	chr6:24064087..24064968-chr6:24274253..24275166,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146038	chromatin interactions

Extended variants
information (count: 1112 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9348626	chr6:24052526-24052527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564810831	chr6:24052567-24052568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532321740	chr6:24052596-24052597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74702221	chr6:24052640-24052641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544158293	chr6:24052660-24052661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191280870	chr6:24052666-24052667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375068347	chr6:24052671-24052672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532565020	chr6:24052677-24052678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559156843	chr6:24052680-24052681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566884774	chr6:24052698-24052699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71747809	chr6:24052756-24052757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532715458	chr6:24052795-24052796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552516969	chr6:24052798-24052799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569536341	chr6:24052808-24052809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75328481	chr6:24052892-24052893	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548288411	chr6:24052927-24052928	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569503121	chr6:24052946-24052947	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141588517	chr6:24052962-24052963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145294841	chr6:24052999-24053000	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183709473	chr6:24053007-24053008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553010481	chr6:24053025-24053026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572874319	chr6:24053072-24053073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34603285	chr6:24053075-24053076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35670854	chr6:24053077-24053078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538794106	chr6:24053084-24053085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35606229	chr6:24053090-24053091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551924133	chr6:24053142-24053143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147641848	chr6:24053143-24053144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571155726	chr6:24053160-24053161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9358744	chr6:24053169-24053170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544097712	chr6:24053192-24053193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142127259	chr6:24053233-24053234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574761266	chr6:24053244-24053245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377340404	chr6:24053249-24053250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540294388	chr6:24053252-24053253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377746614	chr6:24053254-24053255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532512500	chr6:24053297-24053298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552758600	chr6:24053306-24053307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563071901	chr6:24053329-24053330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34728644	chr6:24053350-24053351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145986932	chr6:24053371-24053372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9358745	chr6:24053389-24053390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188869227	chr6:24053442-24053443	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76028888	chr6:24053459-24053460	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557440028	chr6:24053481-24053482	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181307241	chr6:24053504-24053505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546295231	chr6:24053545-24053546	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566523033	chr6:24053634-24053635	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546177528	chr6:24053661-24053662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115264438	chr6:24053662-24053663	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24052000-24052800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:24052000-24054200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:24052200-24053600	Enhancers	Fetal Muscle Leg	muscle
4	chr6:24052200-24054000	Enhancers	Fetal Brain Female	brain
5	chr6:24052400-24054000	Enhancers	Brain Germinal Matrix	brain
6	chr6:24052600-24054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:24052800-24053000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:24052800-24053000	Enhancers	Right Atrium	heart
9	chr6:24052800-24053200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:24052800-24053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:24052800-24053800	Enhancers	Brain Substantia Nigra	brain
12	chr6:24052800-24054000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:24052800-24054000	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:24052800-24054000	Enhancers	Brain Hippocampus Middle	brain
15	chr6:24052800-24054000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:24052800-24054200	Enhancers	Fetal Brain Male	brain
17	chr6:24053000-24053400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:24053000-24053800	Enhancers	Brain Anterior Caudate	brain
19	chr6:24053000-24053800	Enhancers	Pancreas	Pancrea
20	chr6:24053200-24053800	Enhancers	Brain Angular Gyrus	brain
21	chr6:24053400-24053600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:24053400-24053800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:24053800-24054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:24054200-24054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:24054600-24055000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:24055400-24056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:24056400-24057400	Enhancers	Fetal Intestine Large	intestine
28	chr6:24059800-24061000	Enhancers	Brain Germinal Matrix	brain
29	chr6:24060000-24062200	Enhancers	GM12878-XiMat	blood
30	chr6:24061000-24068000	Weak transcription	Brain Germinal Matrix	brain
31	chr6:24068000-24072600	Enhancers	Brain Germinal Matrix	brain
32	chr6:24068600-24070600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:24068800-24070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:24069200-24070400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:24069400-24069800	Enhancers	Fetal Kidney	kidney
36	chr6:24070200-24078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:24070600-24072200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:24072200-24072800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:24072400-24072800	Enhancers	GM12878-XiMat	blood
40	chr6:24072800-24079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:24076200-24076400	Enhancers	Fetal Brain Male	brain
42	chr6:24076200-24076400	Enhancers	Fetal Brain Female	brain
43	chr6:24076600-24077600	Weak transcription	Fetal Brain Male	brain
44	chr6:24076600-24083800	Weak transcription	Pancreas	Pancrea
45	chr6:24077000-24078000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:24077600-24082600	Enhancers	Fetal Brain Male	brain
47	chr6:24078000-24082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:24078200-24078600	Enhancers	Fetal Brain Female	brain
49	chr6:24078200-24078800	Enhancers	NHDF-Ad	bronchial
50	chr6:24078200-24079600	Enhancers	NH-A	brain

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