Variant report

Variant	nsv600993
Chromosome Location	chr6:13191212-13191869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:64636119..64638158-chr6:13191283..13192914,2	MCF-7	breast:
2	chr6:13184861..13186722-chr6:13190898..13192711,2	MCF-7	breast:
3	chr6:13182449..13185270-chr6:13189938..13191511,2	MCF-7	breast:
4	chr17:64637600..64638236-chr6:13191039..13191624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112137	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1150602	chr6:13191212-13191213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147059476	chr6:13191215-13191216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7758482	chr6:13191248-13191249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567365045	chr6:13191249-13191250	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111385021	chr6:13191264-13191265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1150601	chr6:13191265-13191266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141056354	chr6:13191357-13191358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551971366	chr6:13191414-13191415	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565186205	chr6:13191418-13191419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567817270	chr6:13191422-13191423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9369915	chr6:13191447-13191448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558971500	chr6:13191450-13191451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78234059	chr6:13191462-13191463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9369916	chr6:13191474-13191475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554584877	chr6:13191491-13191492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150236509	chr6:13191498-13191499	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78891791	chr6:13191517-13191518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563829243	chr6:13191519-13191520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546884733	chr6:13191555-13191556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545219673	chr6:13191575-13191576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75776212	chr6:13191577-13191578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9369917	chr6:13191603-13191604	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192297705	chr6:13191684-13191685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9381818	chr6:13191767-13191768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529696553	chr6:13191825-13191826	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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13172800-13191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13178800-13191400	Weak transcription	Left Ventricle	heart
3	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
6	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:13182200-13192800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:13183000-13195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:13184200-13197000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:13185000-13191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
15	chr6:13185200-13191400	Weak transcription	Right Ventricle	heart
16	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:13185400-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13185400-13204800	Weak transcription	Lung	lung
20	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
21	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
22	chr6:13185800-13191600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
24	chr6:13187800-13192600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:13189400-13196000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:13191000-13193000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:13191200-13191600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:13191200-13191600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:13191200-13191800	Enhancers	Fetal Heart	heart
30	chr6:13191200-13192000	Enhancers	Fetal Intestine Large	intestine
31	chr6:13191200-13192400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:13191200-13192400	Enhancers	Fetal Intestine Small	intestine
33	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:13191400-13191600	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:13191400-13192000	Enhancers	Left Ventricle	heart
36	chr6:13191400-13192000	Enhancers	Right Ventricle	heart
37	chr6:13191400-13193400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:13191600-13191800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:13191600-13192200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:13191600-13193000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:13191600-13193400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:13191600-13193400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:13191600-13193400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:13191600-13193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:13191600-13193600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:13191600-13195400	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:13191800-13192000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:13191800-13193200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart

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