Variant report

Variant	esv2763606
Chromosome Location	chr6:162187137-162220517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
2	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
3	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
4	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
5	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
6	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
7	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:

Extended variants
information (count: 1457 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1457 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575040935	chr6:162187189-162187190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554326253	chr6:162187298-162187299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189577394	chr6:162187323-162187324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77568626	chr6:162187346-162187347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79047820	chr6:162187348-162187349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398072923	chr6:162187359-162187360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560539782	chr6:162187368-162187369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532715427	chr6:162187372-162187373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141831723	chr6:162187382-162187383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71544917	chr6:162187385-162187386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71544918	chr6:162187387-162187388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562959514	chr6:162187400-162187401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150648074	chr6:162187468-162187469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548613797	chr6:162187472-162187473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541188836	chr6:162187488-162187489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559612180	chr6:162187506-162187507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546850943	chr6:162187530-162187531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181107378	chr6:162187561-162187562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572733506	chr6:162187562-162187563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117295688	chr6:162187590-162187591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79134089	chr6:162187623-162187624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186145203	chr6:162187636-162187637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139747648	chr6:162187641-162187642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368999991	chr6:162187673-162187674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9346879	chr6:162187712-162187713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7774759	chr6:162187747-162187748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188971445	chr6:162187799-162187800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550272514	chr6:162187899-162187900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9365324	chr6:162187912-162187913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs73783397	chr6:162187918-162187919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577552894	chr6:162187932-162187933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546425311	chr6:162187943-162187944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563033407	chr6:162187963-162187964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531860183	chr6:162188059-162188060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551968645	chr6:162188098-162188099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9347538	chr6:162188126-162188127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548404121	chr6:162188161-162188162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376212735	chr6:162188188-162188189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73783398	chr6:162188194-162188195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371821111	chr6:162188257-162188258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371137765	chr6:162188268-162188269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572623379	chr6:162188271-162188272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181538981	chr6:162188272-162188273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374994153	chr6:162188274-162188275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568673546	chr6:162188282-162188283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369086771	chr6:162188283-162188284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9347539	chr6:162188311-162188312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534108658	chr6:162188316-162188317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567998246	chr6:162188320-162188321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9365325	chr6:162188321-162188322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162186600-162195000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:162190800-162191400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:162191400-162192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
5	chr6:162192600-162193400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:162192600-162194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:162192800-162195000	Enhancers	Fetal Lung	lung
8	chr6:162193000-162193200	Enhancers	Fetal Kidney	kidney
9	chr6:162193400-162193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:162193400-162193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:162193600-162194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:162193800-162195000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:162194200-162195000	Enhancers	Fetal Brain Female	brain
14	chr6:162194400-162194800	Enhancers	Brain Substantia Nigra	brain
15	chr6:162194600-162194800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:162194600-162195000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr6:162194600-162195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:162194600-162195600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:162194800-162195000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:162194800-162195000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:162194800-162195000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:162194800-162195200	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:162194800-162195200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:162194800-162195400	Active TSS	Brain Angular Gyrus	brain
25	chr6:162194800-162195400	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:162194800-162195600	Enhancers	Adipose Nuclei	Adipose
27	chr6:162194800-162195600	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr6:162194800-162195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:162194800-162195600	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:162194800-162195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:162194800-162195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:162194800-162195800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr6:162194800-162195800	Enhancers	Fetal Heart	heart
34	chr6:162194800-162195800	Enhancers	Fetal Kidney	kidney
35	chr6:162194800-162195800	Enhancers	Ovary	ovary
36	chr6:162194800-162196200	Enhancers	Fetal Brain Male	brain
37	chr6:162194800-162196200	Enhancers	Fetal Stomach	stomach
38	chr6:162195000-162195200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:162195000-162195200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:162195000-162195200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr6:162195000-162195400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr6:162195000-162195400	Active TSS	Brain Anterior Caudate	brain
43	chr6:162195000-162195400	Active TSS	Brain Cingulate Gyrus	brain
44	chr6:162195000-162195400	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr6:162195000-162195400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:162195000-162195400	Flanking Active TSS	Fetal Brain Female	brain
47	chr6:162195000-162195600	Enhancers	Gastric	stomach
48	chr6:162195000-162195600	Enhancers	Spleen	Spleen
49	chr6:162195000-162195800	Flanking Active TSS	Fetal Lung	lung
50	chr6:162195000-162195800	Enhancers	Fetal Muscle Leg	muscle

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