Variant report

Variant	nsv970076
Chromosome Location	chr6:11789794-11794413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11782929..11785704-chr6:11787439..11790880,3	K562	blood:
2	chr6:11793577..11795668-chr6:11828963..11831346,2	K562	blood:
3	chr14:77498713..77500557-chr6:11793521..11795869,2	MCF-7	breast:
4	chr6:11774413..11777289-chr6:11791782..11794607,2	MCF-7	breast:
5	chr6:11792260..11794049-chr6:11806162..11807776,2	K562	blood:
6	chr6:11783514..11786582-chr6:11793568..11797099,3	K562	blood:

Variant related genes	Relation type
ENSG00000111863	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145762382	chr6:11789798-11789799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376274065	chr6:11789799-11789800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542362823	chr6:11789801-11789802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56204575	chr6:11789810-11789811	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111385120	chr6:11789812-11789813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191618166	chr6:11789832-11789833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555844287	chr6:11789882-11789883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533684661	chr6:11789889-11789890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546851796	chr6:11789913-11789914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11966074	chr6:11789917-11789918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs528051860	chr6:11789927-11789928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143947233	chr6:11789928-11789929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567850260	chr6:11789930-11789931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199852915	chr6:11789958-11789959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148676771	chr6:11789972-11789973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59642026	chr6:11790023-11790024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182702155	chr6:11790034-11790035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202104877	chr6:11790052-11790053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62397270	chr6:11790061-11790062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539735175	chr6:11790075-11790076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553275388	chr6:11790085-11790086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73364025	chr6:11790110-11790111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375136163	chr6:11790116-11790117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569738236	chr6:11790137-11790138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555787398	chr6:11790151-11790152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147860127	chr6:11790165-11790166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139734022	chr6:11790178-11790179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144642207	chr6:11790179-11790180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578086773	chr6:11790193-11790194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201145045	chr6:11790199-11790200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192952316	chr6:11790238-11790239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529528799	chr6:11790253-11790254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147864896	chr6:11790363-11790364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372054048	chr6:11790364-11790365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140440000	chr6:11790368-11790369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530638850	chr6:11790387-11790388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550369487	chr6:11790410-11790411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570646910	chr6:11790414-11790415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539281431	chr6:11790420-11790421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150441308	chr6:11790424-11790425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145234445	chr6:11790452-11790453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185408301	chr6:11790458-11790459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12199311	chr6:11790493-11790494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575513484	chr6:11790502-11790503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115107061	chr6:11790513-11790514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557945452	chr6:11790536-11790537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201156117	chr6:11790564-11790565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116619842	chr6:11790568-11790569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540460783	chr6:11790581-11790582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73721814	chr6:11790591-11790592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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	17122850	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:11786000-11791400	Weak transcription	NHEK	skin
3	chr6:11786200-11790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:11786200-11790800	Weak transcription	HMEC	breast
5	chr6:11786600-11790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:11786800-11790600	Weak transcription	Lung	lung
7	chr6:11787000-11790600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:11787000-11791400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:11787400-11790800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:11788600-11790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:11788600-11791000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:11788800-11793000	Weak transcription	GM12878-XiMat	blood
13	chr6:11789000-11790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:11789600-11791800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:11790400-11790800	Enhancers	Fetal Lung	lung
16	chr6:11790400-11791800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:11790400-11792000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:11790400-11792000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:11790400-11792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:11790400-11793400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:11790400-11793400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:11790400-11793600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:11790600-11790800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:11790600-11791200	Enhancers	Fetal Intestine Small	intestine
25	chr6:11790600-11791800	Enhancers	Lung	lung
26	chr6:11790600-11792000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:11790600-11792000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:11790600-11792000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:11790600-11792800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:11790600-11793600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:11790800-11791400	Enhancers	Fetal Intestine Large	intestine
32	chr6:11790800-11791600	Enhancers	Placenta	Placenta
33	chr6:11790800-11791600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:11790800-11791800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:11790800-11791800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:11790800-11793600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:11790800-11793600	Enhancers	HMEC	breast
38	chr6:11791000-11791200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:11791000-11791200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:11791200-11791600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:11791200-11792000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:11791200-11794000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:11791400-11792000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:11791400-11792000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:11791400-11792000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:11791400-11792000	Enhancers	NHEK	skin
47	chr6:11791400-11792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:11791600-11791800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:11791600-11792000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:11791600-11792000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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