Variant report

Variant	esv3442956
Chromosome Location	chr6:161830762-161835360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
2	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
3	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
4	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552922006	chr6:161830772-161830773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs180826607	chr6:161830794-161830795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145298318	chr6:161830800-161830801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs118180358	chr6:161830885-161830886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568578605	chr6:161830893-161830894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372429657	chr6:161830935-161830936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533935169	chr6:161830950-161830951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371979681	chr6:161830999-161831000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553700276	chr6:161831016-161831017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576835395	chr6:161831085-161831086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538510322	chr6:161831099-161831100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149194152	chr6:161831132-161831133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375788233	chr6:161831181-161831182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368312702	chr6:161831203-161831204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35837695	chr6:161831223-161831224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7757859	chr6:161831240-161831241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185629702	chr6:161831257-161831258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540457199	chr6:161831265-161831266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111386620	chr6:161831268-161831269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10945751	chr6:161831274-161831275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560160498	chr6:161831292-161831293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532169656	chr6:161831330-161831331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568603147	chr6:161831332-161831333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548793776	chr6:161831378-161831379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146885460	chr6:161831419-161831420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562201144	chr6:161831485-161831486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117720470	chr6:161831502-161831503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140490243	chr6:161831530-161831531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371554749	chr6:161831572-161831573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374700866	chr6:161831584-161831585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550933219	chr6:161831585-161831586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189926042	chr6:161831624-161831625	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145657760	chr6:161831625-161831626	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570484248	chr6:161831648-161831649	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539474990	chr6:161831654-161831655	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151061434	chr6:161831665-161831666	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376814248	chr6:161831728-161831729	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141016794	chr6:161831771-161831772	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150219283	chr6:161831772-161831773	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138011791	chr6:161831796-161831797	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375912296	chr6:161831801-161831802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540305409	chr6:161831809-161831810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543711364	chr6:161831814-161831815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553938453	chr6:161831843-161831844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182959306	chr6:161831848-161831849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545853994	chr6:161831849-161831850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563034783	chr6:161831850-161831851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531982601	chr6:161831865-161831866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11968973	chr6:161831888-161831889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186840855	chr6:161831911-161831912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161821800-161834000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:161826800-161831000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:161827600-161831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:161827600-161831400	Enhancers	Fetal Muscle Leg	muscle
6	chr6:161828600-161831200	Enhancers	HSMM	muscle
7	chr6:161828800-161834000	Weak transcription	Psoas Muscle	Psoas
8	chr6:161828800-161834200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:161829000-161832600	Weak transcription	Pancreas	Pancrea
10	chr6:161829200-161831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:161829400-161831000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:161829800-161831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:161829800-161834000	Weak transcription	HSMMtube	muscle
14	chr6:161830200-161830800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:161830400-161830800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:161830400-161830800	Enhancers	NHLF	lung
17	chr6:161830400-161831000	Enhancers	Fetal Heart	heart
18	chr6:161830400-161831200	Enhancers	Fetal Brain Male	brain
19	chr6:161830400-161831200	Enhancers	Left Ventricle	heart
20	chr6:161830400-161831200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:161830400-161838800	Weak transcription	NHDF-Ad	bronchial
22	chr6:161830600-161830800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:161830600-161830800	Enhancers	K562	blood
24	chr6:161830600-161831000	Enhancers	Fetal Brain Female	brain
25	chr6:161830800-161831200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:161831000-161831400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:161831000-161831400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:161831000-161831400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:161831000-161834000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:161831000-161834400	Weak transcription	Fetal Brain Female	brain
31	chr6:161831000-161835200	Weak transcription	Fetal Heart	heart
32	chr6:161831200-161831400	Enhancers	Right Ventricle	heart
33	chr6:161831200-161832600	Weak transcription	HSMM	muscle
34	chr6:161831200-161833600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:161831200-161833600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:161831200-161834800	Weak transcription	Fetal Brain Male	brain
37	chr6:161831400-161831600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:161831400-161831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:161831400-161834800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:161831600-161831800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:161831600-161831800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:161831600-161832200	Enhancers	Esophagus	oesophagus
43	chr6:161831800-161832600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:161831800-161834200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:161832200-161835000	Weak transcription	Esophagus	oesophagus
46	chr6:161832600-161832800	ZNF genes & repeats	Pancreas	Pancrea
47	chr6:161832600-161833000	ZNF genes & repeats	HSMM	muscle
48	chr6:161832600-161833200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:161832800-161834400	Weak transcription	Pancreas	Pancrea
50	chr6:161833000-161833200	Active TSS	Fetal Lung	lung

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