Variant report

Variant	esv2759588
Chromosome Location	chr8:6173354-6248958
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
2	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
3	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:
4	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:
5	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
6	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:
7	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:
8	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:
9	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
10	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-8	chr8:6248485-6250049	ucscGeneNc_uc003wqf_1

No data

Extended variants
information (count: 2796 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:2796 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6990353	chr8:6173354-6173355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566053692	chr8:6173402-6173403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186127677	chr8:6173418-6173419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377277884	chr8:6173423-6173424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543429973	chr8:6173445-6173446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62505760	chr8:6173449-6173450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576811637	chr8:6173453-6173454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189756441	chr8:6173457-6173458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556224463	chr8:6173459-6173460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576011349	chr8:6173476-6173477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566419168	chr8:6173478-6173479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535368437	chr8:6173480-6173481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542070773	chr8:6173482-6173483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146193334	chr8:6173493-6173494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527469062	chr8:6173509-6173510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548718529	chr8:6173516-6173517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568731204	chr8:6173537-6173538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182054045	chr8:6173545-6173546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139966338	chr8:6173546-6173547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149865038	chr8:6173547-6173548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557553763	chr8:6173559-6173560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187586828	chr8:6173561-6173562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563820870	chr8:6173566-6173567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12675640	chr8:6182208-6182209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572083837	chr8:6182222-6182223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576368380	chr8:6182223-6182224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34165172	chr8:6182237-6182238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12681994	chr8:6182245-6182246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145176641	chr8:6182252-6182253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572241133	chr8:6182254-6182255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35736920	chr8:6182273-6182274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529196123	chr8:6182276-6182277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147552322	chr8:6182281-6182282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140714182	chr8:6182318-6182319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10094208	chr8:6182365-6182366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562725148	chr8:6182382-6182383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539083579	chr8:6182388-6182389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533304998	chr8:6182396-6182397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369476905	chr8:6187803-6187804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538773482	chr8:6187811-6187812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113097074	chr8:6187832-6187833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71505123	chr8:6187851-6187852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538010424	chr8:6187856-6187857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554782364	chr8:6187858-6187859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71505124	chr8:6187861-6187862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533832622	chr8:6187876-6187877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554182758	chr8:6187878-6187879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148771752	chr8:6187879-6187880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77507493	chr8:6187888-6187889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556207723	chr8:6187915-6187916	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6173000-6173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:6173200-6173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:6182200-6182400	Enhancers	Lung	lung
4	chr8:6187800-6189800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:6188000-6188200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:6188000-6189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:6188200-6189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:6188400-6189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:6188400-6189200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:6188400-6190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:6188600-6188800	Enhancers	Osteobl	bone
12	chr8:6188600-6189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:6188600-6190000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:6188600-6190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:6188800-6189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:6188800-6191800	Weak transcription	Osteobl	bone
17	chr8:6189000-6189400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:6189000-6189400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:6189200-6189600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:6189200-6189600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:6189400-6189600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:6189400-6189800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:6189400-6190000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:6189600-6189800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:6189600-6189800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:6189600-6189800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:6189800-6192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:6189800-6195200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:6190000-6192000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:6191400-6191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:6191800-6192000	Enhancers	Osteobl	bone
32	chr8:6191800-6192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:6192000-6192200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:6192000-6192800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:6192000-6192800	Flanking Active TSS	Osteobl	bone
36	chr8:6192200-6192400	Flanking Active TSS	A549	lung
37	chr8:6192200-6192600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:6192200-6192600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:6192200-6192600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:6192200-6192600	Enhancers	Adipose Nuclei	Adipose
41	chr8:6192200-6192600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr8:6192200-6192800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:6192400-6192600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:6192400-6192600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:6192400-6192800	Active TSS	A549	lung
46	chr8:6192600-6192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:6192600-6196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:6192800-6193000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:6192800-6193000	Enhancers	Osteobl	bone
50	chr8:6192800-6196400	Weak transcription	A549	lung

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