Variant report

Variant	nsv601149
Chromosome Location	chr6:24322287-24327501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24316198..24318922-chr6:24321457..24323434,2	MCF-7	breast:
2	chr6:24320309..24323217-chr6:24354442..24356031,2	MCF-7	breast:
3	chr6:24312577..24316019-chr6:24320665..24323632,3	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11966126	chr6:24322287-24322288	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535184290	chr6:24322406-24322407	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs371632185	chr6:24322427-24322428	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs555132764	chr6:24322490-24322491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572250730	chr6:24322503-24322504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs534594129	chr6:24322559-24322560	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs558067718	chr6:24322615-24322616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577876409	chr6:24322626-24322627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374552818	chr6:24322657-24322658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368375230	chr6:24322660-24322661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112133372	chr6:24322720-24322721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386406511	chr6:24322721-24322722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386406512	chr6:24322732-24322733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56932924	chr6:24322734-24322735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200746814	chr6:24322735-24322736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571618070	chr6:24322737-24322738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72833012	chr6:24322781-24322782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79158238	chr6:24322881-24322882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191059977	chr6:24322882-24322883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182591950	chr6:24322889-24322890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559987412	chr6:24322931-24322932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528717616	chr6:24322961-24322962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551696866	chr6:24322973-24322974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566689527	chr6:24323008-24323009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145577837	chr6:24323013-24323014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187621217	chr6:24323118-24323119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75749280	chr6:24323128-24323129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147262556	chr6:24323145-24323146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541129856	chr6:24323151-24323152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555647238	chr6:24323200-24323201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192110646	chr6:24323231-24323232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184937500	chr6:24323323-24323324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565722971	chr6:24323331-24323332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3902842	chr6:24323364-24323365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373264892	chr6:24323410-24323411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs74873952	chr6:24323415-24323416	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs139784546	chr6:24323501-24323502	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs537355014	chr6:24323528-24323529	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs188626605	chr6:24323582-24323583	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs574131766	chr6:24323685-24323686	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537951595	chr6:24323720-24323721	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543126833	chr6:24323731-24323732	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs556151394	chr6:24323736-24323737	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371535748	chr6:24323775-24323776	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149758939	chr6:24323823-24323824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs375317452	chr6:24323856-24323857	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs9366567	chr6:24323858-24323859	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs371992038	chr6:24323883-24323884	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs565347196	chr6:24323907-24323908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs77850756	chr6:24323925-24323926	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24316400-24326800	Weak transcription	Pancreas	Pancrea
2	chr6:24316600-24324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:24319600-24323600	Enhancers	HepG2	liver
4	chr6:24321400-24322400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr6:24321600-24322400	Enhancers	Fetal Heart	heart
6	chr6:24321600-24322600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr6:24321600-24322600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr6:24321800-24323800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:24322000-24322400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:24322000-24322400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr6:24322000-24322400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:24322000-24324000	Weak transcription	HSMMtube	muscle
13	chr6:24322200-24322400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr6:24322200-24322400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:24322200-24322400	Flanking Active TSS	A549	lung
16	chr6:24322200-24322600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr6:24322200-24323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:24322200-24323200	Weak transcription	NH-A	brain
19	chr6:24322200-24324000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:24322200-24324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:24322200-24324800	Enhancers	Fetal Kidney	kidney
22	chr6:24322400-24323000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:24322400-24323600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:24322400-24323600	Weak transcription	A549	lung
25	chr6:24322400-24325400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:24322600-24325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:24323200-24324400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:24323200-24325000	Enhancers	NH-A	brain
29	chr6:24323400-24323800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr6:24323400-24324200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:24323400-24324200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:24323600-24323800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr6:24323600-24324000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:24323600-24324600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:24323600-24324800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:24323600-24325000	Flanking Active TSS	HepG2	liver
37	chr6:24323600-24325600	Enhancers	A549	lung
38	chr6:24323800-24324000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr6:24323800-24324000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:24323800-24324600	Enhancers	Hela-S3	cervix
41	chr6:24323800-24324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:24323800-24324800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:24323800-24325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:24324000-24324200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:24324000-24324400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:24324000-24324600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:24324000-24324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:24324000-24324600	Enhancers	HSMMtube	muscle
49	chr6:24324000-24324600	Enhancers	NHEK	skin
50	chr6:24324000-24324800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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