Variant report

Variant	esv1819554
Chromosome Location	chr6:86591202-86625771
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	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:
2	chr6:86597171..86598674-chr6:86601290..86603346,2	K562	blood:

Extended variants
information (count: 1064 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111929334	chr6:86601428-86601429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567724385	chr6:86601430-86601431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538549999	chr6:86601465-86601466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140986606	chr6:86601468-86601469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578075716	chr6:86601482-86601483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180689503	chr6:86601484-86601485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554207600	chr6:86601494-86601495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185341737	chr6:86601548-86601549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547974838	chr6:86601607-86601608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146462026	chr6:86601636-86601637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112033405	chr6:86601654-86601655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530311646	chr6:86601676-86601677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143741660	chr6:86601677-86601678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562601807	chr6:86601692-86601693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533049042	chr6:86601701-86601702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57181685	chr6:86601708-86601709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190201066	chr6:86601754-86601755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201318631	chr6:86601761-86601762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548775591	chr6:86601773-86601774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533800927	chr6:86601781-86601782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567848791	chr6:86601802-86601803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538011769	chr6:86601812-86601813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552563838	chr6:86601832-86601833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60700531	chr6:86601838-86601839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181443166	chr6:86601870-86601871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149305315	chr6:86601875-86601876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186870769	chr6:86601924-86601925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554244346	chr6:86601971-86601972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191725298	chr6:86601980-86601981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183735747	chr6:86601981-86601982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554718808	chr6:86601991-86601992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144539752	chr6:86602006-86602007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148439873	chr6:86602007-86602008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569422493	chr6:86602027-86602028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377259606	chr6:86602044-86602045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56019354	chr6:86602074-86602075	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs577550309	chr6:86602079-86602080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532668982	chr6:86602081-86602082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186140638	chr6:86602105-86602106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559737674	chr6:86602125-86602126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527237367	chr6:86602132-86602133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141680547	chr6:86602175-86602176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113812677	chr6:86602180-86602181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111287889	chr6:86602207-86602208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552863332	chr6:86602229-86602230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550137115	chr6:86602230-86602231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145940378	chr6:86602245-86602246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2875456	chr6:86602284-86602285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs536690137	chr6:86602315-86602316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139790858	chr6:86602318-86602319	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86601400-86602200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:86601800-86602200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:86601800-86602400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:86601800-86602600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:86602000-86602800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:86602000-86602800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:86602000-86602800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:86602200-86602600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:86602400-86603200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:86602600-86606000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:86603200-86605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:86605000-86608400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:86606600-86606800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:86606800-86608000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:86608000-86608600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:86608400-86609600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:86608600-86609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:86609200-86611800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:86609600-86611000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:86611000-86611800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:86611000-86618400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:86611800-86612000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:86612000-86612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:86612200-86612400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:86612400-86616000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:86616000-86617400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:86617600-86618800	Enhancers	Liver	Liver
28	chr6:86618000-86618200	Enhancers	Pancreas	Pancrea
29	chr6:86618400-86618800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:86618400-86618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:86618400-86618800	ZNF genes & repeats	Aorta	Aorta
32	chr6:86618600-86618800	Enhancers	Pancreas	Pancrea
33	chr6:86618800-86620800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:86618800-86621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:86618800-86622000	Weak transcription	Aorta	Aorta
36	chr6:86618800-86624000	Weak transcription	Pancreas	Pancrea
37	chr6:86620400-86621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:86620600-86621000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:86620800-86621200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:86621000-86621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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