Variant report

Variant	nsv981320
Chromosome Location	chr6:13247460-13253055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13246618..13250195-chr6:13274363..13276198,3	K562	blood:
2	chr6:13243200..13244860-chr6:13246425..13248696,2	MCF-7	breast:
3	chr6:13244619..13246352-chr6:13250637..13252515,2	K562	blood:
4	chr6:13252536..13255335-chr6:13260574..13262667,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs563872133	chr6:13247489-13247490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73357177	chr6:13247491-13247492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546429677	chr6:13247492-13247493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76733476	chr6:13247499-13247500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77062527	chr6:13247500-13247501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548541331	chr6:13247543-13247544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71552738	chr6:13247558-13247559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376129371	chr6:13247559-13247560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71701943	chr6:13247568-13247569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559794648	chr6:13247596-13247597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60972913	chr6:13247597-13247598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116839187	chr6:13247599-13247600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530907562	chr6:13247620-13247621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550614148	chr6:13247681-13247682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369227909	chr6:13247723-13247724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373355010	chr6:13247740-13247741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532138143	chr6:13247769-13247770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141167738	chr6:13247777-13247778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55710269	chr6:13247791-13247792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200427630	chr6:13247805-13247806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139117562	chr6:13247820-13247821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189628158	chr6:13247833-13247834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554682681	chr6:13247858-13247859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537051000	chr6:13247863-13247864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202025	chr6:13247869-13247870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182345627	chr6:13247870-13247871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546350864	chr6:13247923-13247924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553319931	chr6:13247978-13247979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73357179	chr6:13247979-13247980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542204511	chr6:13248033-13248034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562407776	chr6:13248035-13248036	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548366277	chr6:13248098-13248099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191750197	chr6:13248106-13248107	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376235791	chr6:13248107-13248108	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547285658	chr6:13248145-13248146	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530774408	chr6:13248150-13248151	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567181752	chr6:13248198-13248199	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184477075	chr6:13248228-13248229	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564210576	chr6:13248255-13248256	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs189354808	chr6:13248261-13248262	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs16873882	chr6:13248281-13248282	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565779514	chr6:13248299-13248300	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528386193	chr6:13248364-13248365	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539225773	chr6:13248365-13248366	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558932980	chr6:13248391-13248392	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548141392	chr6:13248405-13248406	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373346414	chr6:13248441-13248442	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181337038	chr6:13248459-13248460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373072578	chr6:13248501-13248502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570540864	chr6:13248516-13248517	Enhancers Weak transcription Strong 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	21448237	CNVD
Autism	22495311	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13229400-13248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:13230600-13253400	Weak transcription	Spleen	Spleen
3	chr6:13230800-13248000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:13231200-13248200	Weak transcription	Fetal Stomach	stomach
5	chr6:13233200-13256000	Weak transcription	Right Ventricle	heart
6	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:13235200-13248200	Weak transcription	HSMMtube	muscle
8	chr6:13236000-13248000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:13237600-13252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:13239000-13253200	Weak transcription	Aorta	Aorta
11	chr6:13240000-13248000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:13240200-13248000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:13240200-13248000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:13240200-13248200	Weak transcription	Brain Anterior Caudate	brain
15	chr6:13240200-13251200	Weak transcription	Left Ventricle	heart
16	chr6:13240400-13248000	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:13241200-13250200	Weak transcription	Fetal Heart	heart
18	chr6:13241600-13251200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:13242800-13248200	Weak transcription	Lung	lung
20	chr6:13242800-13256000	Weak transcription	Pancreas	Pancrea
21	chr6:13243200-13248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:13243600-13248000	Weak transcription	HepG2	liver
23	chr6:13244000-13250400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:13244400-13248000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:13244400-13250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:13245000-13248000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:13245000-13250200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:13245600-13248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:13246600-13249800	Enhancers	Fetal Brain Male	brain
30	chr6:13247800-13248800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:13247800-13249600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:13248000-13248400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:13248000-13248600	Enhancers	Brain Hippocampus Middle	brain
34	chr6:13248000-13248600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:13248000-13248800	Enhancers	Brain Germinal Matrix	brain
36	chr6:13248000-13249000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:13248000-13249000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:13248000-13249000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:13248000-13249000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:13248000-13249000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:13248000-13249000	Enhancers	Brain Angular Gyrus	brain
42	chr6:13248000-13249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:13248000-13249200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:13248000-13249200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:13248000-13249200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:13248000-13249200	Enhancers	HepG2	liver
47	chr6:13248000-13249200	Enhancers	HMEC	breast
48	chr6:13248000-13249200	Enhancers	NHEK	skin
49	chr6:13248000-13249400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:13248000-13249600	Enhancers	Fetal Muscle Leg	muscle

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