Variant report

Variant	nsv604806
Chromosome Location	chr6:144188805-144199416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144183593..144185426-chr6:144187366..144189875,2	MCF-7	breast:
2	chr6:144196775..144199655-chr6:144207316..144209888,2	K562	blood:
3	chr6:144181106..144183993-chr6:144186106..144190381,4	K562	blood:
4	chr6:144181106..144183993-chr6:144186106..144189190,3	K562	blood:
5	chr6:144184104..144185729-chr6:144192312..144194282,2	K562	blood:

Variant related genes	Relation type
ENSG00000118491	chromatin interactions

Extended variants
information (count: 398 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2328508	chr6:144188805-144188806	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542442360	chr6:144188878-144188879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111252429	chr6:144188895-144188896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530561313	chr6:144188920-144188921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545879743	chr6:144188945-144188946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183665982	chr6:144188960-144188961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528072176	chr6:144188965-144188966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188372546	chr6:144189053-144189054	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181798877	chr6:144189055-144189056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529106268	chr6:144189061-144189062	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567762605	chr6:144189067-144189068	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550370611	chr6:144189078-144189079	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34110154	chr6:144189092-144189093	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149737678	chr6:144189133-144189134	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569027492	chr6:144189143-144189144	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537198790	chr6:144189200-144189201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117652954	chr6:144189232-144189233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551531382	chr6:144189371-144189372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570792742	chr6:144189384-144189385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187634389	chr6:144189421-144189422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143718022	chr6:144189425-144189426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189971840	chr6:144189455-144189456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542528350	chr6:144189466-144189467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112111636	chr6:144189472-144189473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575771414	chr6:144189489-144189490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs75827812	chr6:144189505-144189506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112396072	chr6:144189506-144189507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111830492	chr6:144189507-144189508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140294140	chr6:144189512-144189513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182081239	chr6:144189517-144189518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539845935	chr6:144189523-144189524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142116391	chr6:144189560-144189561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112816000	chr6:144189603-144189604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182739970	chr6:144189604-144189605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75389167	chr6:144189612-144189613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529193674	chr6:144189616-144189617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550460886	chr6:144189630-144189631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536377812	chr6:144189638-144189639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568987254	chr6:144189664-144189665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150734731	chr6:144189682-144189683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs186282451	chr6:144189693-144189694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs9496785	chr6:144189718-144189719	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565273039	chr6:144189749-144189750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191275878	chr6:144189766-144189767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374639698	chr6:144189822-144189823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568462283	chr6:144189895-144189896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs202145752	chr6:144189945-144189946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536182788	chr6:144189979-144189980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557617243	chr6:144189994-144189995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575368567	chr6:144190070-144190071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144172400-144189000	Weak transcription	Small Intestine	intestine
2	chr6:144178800-144203800	Weak transcription	Stomach Mucosa	stomach
3	chr6:144179800-144191200	Weak transcription	Psoas Muscle	Psoas
4	chr6:144183000-144193000	Weak transcription	Spleen	Spleen
5	chr6:144183200-144189000	Weak transcription	Gastric	stomach
6	chr6:144183200-144189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:144183200-144190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:144183400-144189000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:144184600-144189000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:144184600-144190600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:144185600-144193000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:144185800-144190600	Weak transcription	Fetal Kidney	kidney
13	chr6:144186000-144189800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:144186000-144192400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:144186000-144192800	Weak transcription	HSMMtube	muscle
16	chr6:144186000-144223000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:144186200-144193200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:144186600-144189400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:144186600-144193000	Weak transcription	Osteobl	bone
20	chr6:144186600-144193200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:144186800-144189000	Weak transcription	NHLF	lung
22	chr6:144186800-144189200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:144186800-144189400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:144186800-144190600	Weak transcription	Brain Germinal Matrix	brain
25	chr6:144186800-144193000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:144187000-144189200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:144187000-144189200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:144187000-144189200	Weak transcription	HSMM	muscle
29	chr6:144187000-144189200	Weak transcription	NH-A	brain
30	chr6:144187000-144192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:144187000-144193200	Weak transcription	NHEK	skin
32	chr6:144187000-144193800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:144187200-144191600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:144187400-144189000	Weak transcription	HMEC	breast
35	chr6:144187400-144189200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:144187400-144189200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:144187400-144189200	Weak transcription	Liver	Liver
38	chr6:144187400-144189200	Weak transcription	Fetal Intestine Large	intestine
39	chr6:144187600-144189200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:144187600-144189200	Weak transcription	Adipose Nuclei	Adipose
41	chr6:144187600-144189200	Weak transcription	Fetal Stomach	stomach
42	chr6:144187600-144189200	Weak transcription	Ovary	ovary
43	chr6:144187600-144189200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:144187600-144189200	Weak transcription	Thymus	Thymus
45	chr6:144187600-144189400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:144187600-144189400	Weak transcription	Aorta	Aorta
47	chr6:144187600-144189400	Weak transcription	Fetal Brain Female	brain
48	chr6:144187600-144190200	Weak transcription	Fetal Thymus	thymus
49	chr6:144187600-144191800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:144187600-144192000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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