Variant report

Variant	esv2422334
Chromosome Location	chr6:162523835-162805800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
2	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
3	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
4	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
5	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
6	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
7	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
8	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
9	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
10	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
11	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
12	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
13	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
14	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
15	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
16	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
17	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
18	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
19	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
20	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
21	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
22	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
23	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
24	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
25	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
26	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
27	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
28	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:

No data

Extended variants
information (count: 11291 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:11291 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60262688	chr6:162523843-162523844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573608741	chr6:162523846-162523847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202050209	chr6:162523898-162523899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542354075	chr6:162523902-162523903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559450406	chr6:162523903-162523904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368520396	chr6:162523932-162523933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575255614	chr6:162523936-162523937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112178908	chr6:162523958-162523959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545196246	chr6:162523974-162523975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542894116	chr6:162523980-162523981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561587614	chr6:162523991-162523992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530700727	chr6:162523999-162524000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550882742	chr6:162524017-162524018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371946905	chr6:162524062-162524063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563531517	chr6:162524068-162524069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573583185	chr6:162524085-162524086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191038880	chr6:162524150-162524151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183350621	chr6:162524222-162524223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548972661	chr6:162524361-162524362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78004719	chr6:162524426-162524427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565786826	chr6:162524428-162524429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534811489	chr6:162524483-162524484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551522964	chr6:162524487-162524488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187730427	chr6:162524509-162524510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150333729	chr6:162524519-162524520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556790486	chr6:162524539-162524540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557682667	chr6:162524581-162524582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544716446	chr6:162524623-162524624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199818629	chr6:162524656-162524657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73783412	chr6:162524699-162524700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192672533	chr6:162524720-162524721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553026315	chr6:162524727-162524728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184896696	chr6:162524736-162524737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149621598	chr6:162524740-162524741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115163505	chr6:162524746-162524747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75972887	chr6:162524779-162524780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73783413	chr6:162524792-162524793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147294652	chr6:162524820-162524821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560337187	chr6:162524893-162524894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561192983	chr6:162524920-162524921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139365183	chr6:162524950-162524951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188359726	chr6:162524951-162524952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191551157	chr6:162524960-162524961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553126988	chr6:162525018-162525019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532994805	chr6:162525050-162525051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74469024	chr6:162525087-162525088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551489881	chr6:162525133-162525134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143286323	chr6:162525140-162525141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75788667	chr6:162525154-162525155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs118056380	chr6:162525179-162525180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162513600-162524800	Weak transcription	Ovary	ovary
2	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
3	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:162524800-162525200	Enhancers	Ovary	ovary
6	chr6:162524800-162525400	Enhancers	Gastric	stomach
7	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:162527600-162528000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:162527600-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:162527600-162528200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:162527800-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:162528000-162529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:162529000-162529400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:162529000-162529600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:162529000-162529800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:162529000-162530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:162529200-162530000	Enhancers	Pancreas	Pancrea
18	chr6:162529200-162530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:162529200-162530600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:162529400-162530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:162529800-162530600	Enhancers	Left Ventricle	heart
22	chr6:162529800-162530600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr6:162529800-162530800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:162529800-162531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:162530200-162530600	Enhancers	Psoas Muscle	Psoas
26	chr6:162530200-162531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:162530200-162531000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:162530200-162532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:162530400-162530800	Enhancers	HMEC	breast
30	chr6:162530400-162530800	Enhancers	HUVEC	blood vessel
31	chr6:162530400-162530800	Enhancers	NH-A	brain
32	chr6:162530400-162530800	Enhancers	NHDF-Ad	bronchial
33	chr6:162530400-162531000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:162530400-162531000	Enhancers	Fetal Heart	heart
35	chr6:162530400-162531000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:162530600-162532000	Weak transcription	Left Ventricle	heart
37	chr6:162531000-162532000	Weak transcription	Ovary	ovary
38	chr6:162532000-162532200	Enhancers	Left Ventricle	heart
39	chr6:162532000-162532200	Enhancers	Ovary	ovary
40	chr6:162532600-162533200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:162536400-162543200	Weak transcription	Aorta	Aorta
42	chr6:162537800-162538600	Enhancers	Fetal Stomach	stomach
43	chr6:162538600-162540200	Weak transcription	Fetal Stomach	stomach
44	chr6:162539800-162540000	Enhancers	Psoas Muscle	Psoas
45	chr6:162539800-162540400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:162539800-162540600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:162539800-162541000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:162539800-162541000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:162539800-162541000	Enhancers	NHDF-Ad	bronchial
50	chr6:162539800-162541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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