Variant report

Variant	esv3358179
Chromosome Location	chr8:85259847-85270795
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	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:

Extended variants
information (count: 255 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574787690	chr8:85263200-85263201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540622929	chr8:85263211-85263212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560776619	chr8:85263223-85263224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577565439	chr8:85263237-85263238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374518777	chr8:85263238-85263239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562905133	chr8:85263278-85263279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181468714	chr8:85263317-85263318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548006581	chr8:85263352-85263353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150517504	chr8:85263371-85263372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527335364	chr8:85263394-85263395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530270266	chr8:85263398-85263399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558615754	chr8:85263418-85263419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184546536	chr8:85263468-85263469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539315603	chr8:85263484-85263485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576905800	chr8:85263497-85263498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138312628	chr8:85263531-85263532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72679306	chr8:85263570-85263571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368238024	chr8:85264043-85264044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149644687	chr8:85264048-85264049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116150612	chr8:85264072-85264073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569293961	chr8:85264110-85264111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561635082	chr8:85264187-85264188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568482058	chr8:85264651-85264652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534251504	chr8:85264675-85264676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554291301	chr8:85264689-85264690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182082985	chr8:85264716-85264717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539836955	chr8:85264722-85264723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76138515	chr8:85264745-85264746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146329947	chr8:85264761-85264762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542081711	chr8:85264780-85264781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187631557	chr8:85264812-85264813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572292216	chr8:85264831-85264832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117497169	chr8:85264946-85264947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563835935	chr8:85264979-85264980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71522959	chr8:85264982-85264983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532806315	chr8:85265013-85265014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191985001	chr8:85265023-85265024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4740009	chr8:85265029-85265030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182794277	chr8:85265075-85265076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548920759	chr8:85265085-85265086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139642019	chr8:85265086-85265087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534241010	chr8:85265109-85265110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546826378	chr8:85265116-85265117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555510108	chr8:85265125-85265126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568263248	chr8:85265216-85265217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547955962	chr8:85265219-85265220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372570785	chr8:85265220-85265221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539848478	chr8:85265255-85265256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142772906	chr8:85265312-85265313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570271358	chr8:85265358-85265359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
2	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
4	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:85265600-85266600	Enhancers	NH-A	brain
10	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:85265800-85267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:85265800-85267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:85265800-85267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:85266400-85268200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:85267200-85268200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:85268200-85268400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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