Variant report

Variant	nsv981310
Chromosome Location	chr6:11689104-11694850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11685508..11687716-chr6:11690185..11693002,2	MCF-7	breast:
2	chr6:11691117..11693663-chr6:11695839..11698577,2	K562	blood:
3	chr6:11685812..11688101-chr6:11689840..11692824,2	K562	blood:
4	chr6:11690358..11691945-chr6:12011366..12013423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095951	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs578232561	chr6:11689136-11689137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540664374	chr6:11689148-11689149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566510601	chr6:11689155-11689156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9394243	chr6:11689162-11689163	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549123580	chr6:11689181-11689182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557554761	chr6:11689185-11689186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560284690	chr6:11689208-11689209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78348276	chr6:11689217-11689218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12216511	chr6:11689242-11689243	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372089024	chr6:11689254-11689255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190391572	chr6:11689261-11689262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142211043	chr6:11689296-11689297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553998734	chr6:11689311-11689312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9469853	chr6:11689312-11689313	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9394244	chr6:11689344-11689345	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6941343	chr6:11689477-11689478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576168098	chr6:11689497-11689498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146188953	chr6:11689505-11689506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138993839	chr6:11689507-11689508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572587612	chr6:11689536-11689537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10947520	chr6:11689537-11689538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9462005	chr6:11689629-11689630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528902083	chr6:11689639-11689640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548960085	chr6:11689643-11689644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551690125	chr6:11689706-11689707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112825571	chr6:11689707-11689708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551435683	chr6:11689713-11689714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571367669	chr6:11689734-11689735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148632634	chr6:11689915-11689916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114198825	chr6:11689923-11689924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182079776	chr6:11689960-11689961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565022483	chr6:11689967-11689968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115226240	chr6:11689976-11689977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556183219	chr6:11690010-11690011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34578559	chr6:11690074-11690075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34098751	chr6:11690078-11690079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199715835	chr6:11690079-11690080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200621094	chr6:11690084-11690085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201444136	chr6:11690085-11690086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199894110	chr6:11690087-11690088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6931662	chr6:11690105-11690106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11754457	chr6:11690111-11690112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558978733	chr6:11690115-11690116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61681578	chr6:11690116-11690117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138220700	chr6:11690145-11690146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72122693	chr6:11690146-11690147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75125264	chr6:11690147-11690148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386697138	chr6:11690148-11690149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12199757	chr6:11690153-11690154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62395208	chr6:11690162-11690163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
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	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11685000-11689400	Enhancers	Fetal Intestine Large	intestine
2	chr6:11685200-11693000	Weak transcription	Spleen	Spleen
3	chr6:11686600-11701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:11686600-11702400	Weak transcription	HSMMtube	muscle
5	chr6:11687200-11689200	Enhancers	Fetal Heart	heart
6	chr6:11687200-11689200	Enhancers	Fetal Stomach	stomach
7	chr6:11687200-11689400	Enhancers	Brain Germinal Matrix	brain
8	chr6:11688600-11689200	Enhancers	Fetal Kidney	kidney
9	chr6:11688600-11689200	Enhancers	Fetal Lung	lung
10	chr6:11688600-11689400	Enhancers	Fetal Intestine Small	intestine
11	chr6:11688600-11689400	Enhancers	Ovary	ovary
12	chr6:11688800-11692600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:11688800-11711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:11689000-11689800	Strong transcription	HSMM	muscle
15	chr6:11689200-11692800	Weak transcription	Fetal Heart	heart
16	chr6:11689800-11702000	Weak transcription	HSMM	muscle
17	chr6:11690000-11690800	Enhancers	HUVEC	blood vessel
18	chr6:11690800-11693000	Weak transcription	HUVEC	blood vessel
19	chr6:11692400-11692800	Active TSS	Duodenum Mucosa	Duodenum
20	chr6:11692400-11693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:11692600-11693200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:11692800-11693400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr6:11693000-11693200	Enhancers	Aorta	Aorta
24	chr6:11693000-11693400	Enhancers	Spleen	Spleen
25	chr6:11693000-11694400	Enhancers	HUVEC	blood vessel

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