Variant report

Variant	esv2752267
Chromosome Location	chr8:78661586-78995994
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
2	chr8:78862598..78865404-chr8:78866087..78868629,2	K562	blood:
3	chr8:78986874..78989073-chr8:78989567..78991285,2	MCF-7	breast:
4	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
5	chr8:78986874..78989073-chr8:78989567..78991285,2	MCF-7	breast:
6	chr8:78818147..78820890-chr8:78825975..78828143,2	K562	blood:
7	chr8:78768514..78770860-chr8:78814182..78816443,2	K562	blood:
8	chr8:78862598..78865404-chr8:78866087..78868629,2	K562	blood:
9	chr8:78818147..78820890-chr8:78825975..78828143,2	K562	blood:
10	chr8:78768514..78770860-chr8:78814182..78816443,2	K562	blood:
11	chr13:31039728..31040439-chr8:78741209..78742131,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 2955 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2955 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9643728	chr8:78664003-78664004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188689580	chr8:78664021-78664022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568897738	chr8:78664024-78664025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193191140	chr8:78664026-78664027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373597004	chr8:78664060-78664061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182865274	chr8:78664084-78664085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367773694	chr8:78664090-78664091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545931361	chr8:78664092-78664093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117587445	chr8:78664093-78664094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530183801	chr8:78664101-78664102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145936262	chr8:78664127-78664128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372863832	chr8:78664147-78664148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566820525	chr8:78664156-78664157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187188762	chr8:78664227-78664228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112974431	chr8:78664230-78664231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191701672	chr8:78664270-78664271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537921042	chr8:78664272-78664273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148284586	chr8:78664361-78664362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571085033	chr8:78664368-78664369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141324692	chr8:78664369-78664370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183849324	chr8:78664379-78664380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150781050	chr8:78664437-78664438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530033586	chr8:78664446-78664447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139156561	chr8:78664449-78664450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145208045	chr8:78664451-78664452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115816565	chr8:78664463-78664464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186724413	chr8:78664478-78664479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192223462	chr8:78664488-78664489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62507771	chr8:78664579-78664580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185813483	chr8:78664642-78664643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190345776	chr8:78664668-78664669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543236600	chr8:78664669-78664670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57962702	chr8:78664723-78664724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372016007	chr8:78664734-78664735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550355856	chr8:78672004-78672005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192324594	chr8:78672010-78672011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76254204	chr8:78672040-78672041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185169096	chr8:78672061-78672062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563362920	chr8:78672064-78672065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539062698	chr8:78672251-78672252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574466045	chr8:78672300-78672301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573748202	chr8:78672340-78672341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557303846	chr8:78672348-78672349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190061652	chr8:78672380-78672381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555194903	chr8:78701423-78701424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192091299	chr8:78701471-78701472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534635771	chr8:78701515-78701516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150745620	chr8:78701535-78701536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578031712	chr8:78701549-78701550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544964520	chr8:78701574-78701575	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78664000-78664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:78672000-78672400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:78701400-78701600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:78712800-78713200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:78714800-78715400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:78715400-78716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:78715800-78716400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:78716400-78716600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:78718800-78719200	Active TSS	Aorta	Aorta
10	chr8:78729200-78729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:78732800-78733600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:78733600-78734200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:78734200-78734400	Enhancers	Fetal Muscle Leg	muscle
14	chr8:78742200-78742600	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:78772000-78773800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:78772200-78772400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:78772200-78772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:78772400-78773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:78772400-78773400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:78773400-78773800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:78773400-78774000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:78773400-78774200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:78773800-78774000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:78774000-78780000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:78778000-78778800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:78780800-78781000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:78792400-78792600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:78795000-78795600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:78806800-78807000	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:78807000-78807200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr8:78807200-78807400	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:78807400-78807800	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:78813000-78816600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:78813800-78815800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:78818400-78818600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:78818800-78819800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:78819200-78819600	Enhancers	Adipose Nuclei	Adipose
38	chr8:78819400-78820200	Enhancers	HepG2	liver
39	chr8:78830800-78831000	Enhancers	Adipose Nuclei	Adipose
40	chr8:78831000-78831400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:78831000-78831400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:78831000-78831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:78831200-78831400	ZNF genes & repeats	Spleen	Spleen
44	chr8:78831200-78831600	Enhancers	Hela-S3	cervix
45	chr8:78833000-78833400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:78842000-78842800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:78842000-78843000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:78842000-78843200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:78842400-78842800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:78842800-78843200	Enhancers	HUES64 Cell Line	embryonic stem cell

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