Variant report

Variant	nsv611648
Chromosome Location	chr8:85241871-85268951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
2	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:
3	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
4	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
5	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:

Extended variants
information (count: 467 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16912699	chr8:85241871-85241872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573216554	chr8:85241913-85241914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538915058	chr8:85241925-85241926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543485011	chr8:85241985-85241986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367706752	chr8:85242046-85242047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189929500	chr8:85242114-85242115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542735421	chr8:85242188-85242189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72218912	chr8:85242278-85242279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541795341	chr8:85242280-85242281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575706848	chr8:85242316-85242317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140233457	chr8:85242338-85242339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560868355	chr8:85242351-85242352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77501443	chr8:85242374-85242375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540268429	chr8:85242381-85242382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73293017	chr8:85242416-85242417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370535482	chr8:85242428-85242429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181664483	chr8:85242459-85242460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552455205	chr8:85242484-85242485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549969264	chr8:85242495-85242496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562712873	chr8:85242502-85242503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186863286	chr8:85242566-85242567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548341525	chr8:85242629-85242630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567689049	chr8:85242632-85242633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75283718	chr8:85242656-85242657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200705230	chr8:85242671-85242672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57379489	chr8:85242732-85242733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191249548	chr8:85242736-85242737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566480078	chr8:85242806-85242807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538954273	chr8:85242848-85242849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548531298	chr8:85242859-85242860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570207667	chr8:85242874-85242875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142532430	chr8:85242888-85242889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569533280	chr8:85242900-85242901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182720891	chr8:85242952-85242953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530650548	chr8:85242953-85242954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530641013	chr8:85243016-85243017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1388414	chr8:85243042-85243043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566301444	chr8:85243100-85243101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1491561	chr8:85243164-85243165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185289467	chr8:85243173-85243174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7010984	chr8:85243198-85243199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576868880	chr8:85243274-85243275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545775603	chr8:85243331-85243332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562666876	chr8:85243350-85243351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570467317	chr8:85243362-85243363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117471063	chr8:85243403-85243404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189950710	chr8:85243423-85243424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73293026	chr8:85243435-85243436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183312496	chr8:85243464-85243465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187745170	chr8:85243467-85243468	Weak transcription Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85241200-85242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:85241200-85247200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:85241400-85242600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:85241400-85242800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:85242600-85245400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:85242600-85246000	Enhancers	Fetal Intestine Large	intestine
7	chr8:85242800-85244800	Enhancers	Fetal Intestine Small	intestine
8	chr8:85245400-85247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:85247200-85247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:85247200-85247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:85247200-85247600	Enhancers	Right Atrium	heart
12	chr8:85247200-85248600	Enhancers	Fetal Heart	heart
13	chr8:85247400-85249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:85247600-85249200	Enhancers	Fetal Brain Male	brain
15	chr8:85247800-85248600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:85248000-85248400	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:85248000-85248600	Enhancers	Fetal Brain Female	brain
18	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
19	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
21	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:85265600-85266600	Enhancers	NH-A	brain
27	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:85265800-85267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:85265800-85267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:85265800-85267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:85266400-85268200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:85267200-85268200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:85268200-85268400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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