Variant report

Variant	esv2574651
Chromosome Location	chr6:142509002-142510396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142509860..142511893-chr6:142513753..142515292,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531314846	chr6:142509008-142509009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530094508	chr6:142509009-142509010	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145813420	chr6:142509019-142509020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9496293	chr6:142509026-142509027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569687524	chr6:142509040-142509041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200641044	chr6:142509045-142509046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371764200	chr6:142509049-142509050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554227642	chr6:142509053-142509054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80297231	chr6:142509066-142509067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58131768	chr6:142509067-142509068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62430484	chr6:142509069-142509070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538159126	chr6:142509083-142509084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115176547	chr6:142509089-142509090	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571464277	chr6:142509105-142509106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559863027	chr6:142509106-142509107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553968776	chr6:142509107-142509108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572171761	chr6:142509137-142509138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112292367	chr6:142509145-142509146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542714735	chr6:142509205-142509206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9496294	chr6:142509207-142509208	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113505301	chr6:142509230-142509231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529200436	chr6:142509276-142509277	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543903476	chr6:142509277-142509278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575933977	chr6:142509285-142509286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12183080	chr6:142509355-142509356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113339992	chr6:142509358-142509359	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13210988	chr6:142509359-142509360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62430485	chr6:142509360-142509361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374848439	chr6:142509362-142509363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370358856	chr6:142509363-142509364	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565815396	chr6:142509375-142509376	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71562602	chr6:142509399-142509400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186153164	chr6:142509403-142509404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544124664	chr6:142509477-142509478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565439047	chr6:142509498-142509499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71564403	chr6:142509536-142509537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369170683	chr6:142509561-142509562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377024478	chr6:142509595-142509596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541235897	chr6:142509632-142509633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559474019	chr6:142509659-142509660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373938370	chr6:142509666-142509667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76995829	chr6:142509667-142509668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531579108	chr6:142509670-142509671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149261345	chr6:142509671-142509672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143500617	chr6:142509680-142509681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375578827	chr6:142509681-142509682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571460386	chr6:142509696-142509697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115585904	chr6:142509732-142509733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547632319	chr6:142509742-142509743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565842768	chr6:142509790-142509791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	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
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
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142484200-142533800	Weak transcription	Aorta	Aorta
2	chr6:142484600-142510000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:142489000-142543200	Weak transcription	Small Intestine	intestine
4	chr6:142492200-142524800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:142495400-142517000	Weak transcription	NHEK	skin
6	chr6:142495600-142510400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:142495600-142513000	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:142495600-142533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:142495800-142519600	Weak transcription	HMEC	breast
10	chr6:142496000-142525000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:142496000-142528600	Weak transcription	Lung	lung
12	chr6:142496200-142510400	Weak transcription	Fetal Intestine Large	intestine
13	chr6:142496200-142513200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:142496200-142514800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:142496200-142519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:142496200-142519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:142496200-142527600	Weak transcription	Thymus	Thymus
18	chr6:142496200-142528200	Weak transcription	Fetal Stomach	stomach
19	chr6:142496200-142528400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:142496200-142533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:142496200-142533800	Weak transcription	Gastric	stomach
22	chr6:142496200-142533800	Weak transcription	Pancreas	Pancrea
23	chr6:142496400-142517200	Weak transcription	Osteobl	bone
24	chr6:142496400-142528000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:142496400-142533600	Weak transcription	Colonic Mucosa	Colon
26	chr6:142496600-142519600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:142496600-142525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:142496600-142526200	Weak transcription	Esophagus	oesophagus
29	chr6:142496600-142533800	Weak transcription	Left Ventricle	heart
30	chr6:142496600-142546800	Weak transcription	NHLF	lung
31	chr6:142498200-142526000	Weak transcription	Fetal Intestine Small	intestine
32	chr6:142498400-142510200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:142498600-142510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:142498600-142519600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:142498600-142527800	Weak transcription	Ovary	ovary
36	chr6:142499000-142510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:142499200-142510600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:142499200-142524800	Weak transcription	HSMMtube	muscle
39	chr6:142499400-142510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:142499400-142510200	Weak transcription	HepG2	liver
41	chr6:142499400-142511600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:142499400-142514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:142499400-142514800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:142499400-142514800	Weak transcription	Psoas Muscle	Psoas
45	chr6:142499400-142515800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:142499400-142519600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:142499600-142509800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:142499600-142510200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:142499600-142510600	Weak transcription	Adipose Nuclei	Adipose
50	chr6:142499600-142513800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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