Variant report

Variant	nsv1028025
Chromosome Location	chr8:85239131-85268654
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	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
3	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
4	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:
5	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:

Extended variants
information (count: 563 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369150325	chr8:85239156-85239157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550409974	chr8:85239175-85239176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570205564	chr8:85239176-85239177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188404763	chr8:85239185-85239186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577242818	chr8:85239188-85239189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112349404	chr8:85239189-85239190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28688042	chr8:85239200-85239201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149401435	chr8:85239227-85239228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565631416	chr8:85239257-85239258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534364777	chr8:85239267-85239268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557310012	chr8:85239280-85239281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568882510	chr8:85239283-85239284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73291393	chr8:85239309-85239310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191256103	chr8:85239363-85239364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145417881	chr8:85239366-85239367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143783143	chr8:85239382-85239383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182711279	chr8:85239397-85239398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186816189	chr8:85239416-85239417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542446119	chr8:85239420-85239421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373378143	chr8:85239421-85239422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545496187	chr8:85239427-85239428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80295922	chr8:85239517-85239518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541469433	chr8:85239541-85239542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16912697	chr8:85239561-85239562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533687299	chr8:85239575-85239576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561271808	chr8:85239576-85239577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550404945	chr8:85239602-85239603	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73291396	chr8:85239617-85239618	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529534286	chr8:85239627-85239628	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549310627	chr8:85239634-85239635	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73291399	chr8:85239650-85239651	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534399686	chr8:85239658-85239659	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10504792	chr8:85239703-85239704	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570883812	chr8:85239706-85239707	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143925240	chr8:85239714-85239715	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557262512	chr8:85239758-85239759	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73291401	chr8:85239816-85239817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147235989	chr8:85239817-85239818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532687673	chr8:85239819-85239820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192392913	chr8:85239847-85239848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140720882	chr8:85239850-85239851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541506351	chr8:85239860-85239861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141296684	chr8:85239863-85239864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559260526	chr8:85239876-85239877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73291402	chr8:85239888-85239889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147645854	chr8:85239928-85239929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572853880	chr8:85239930-85239931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376100622	chr8:85239934-85239935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536397851	chr8:85239974-85239975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185091088	chr8:85239978-85239979	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85238200-85240400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:85239000-85241400	Enhancers	Fetal Intestine Large	intestine
3	chr8:85239200-85239400	Enhancers	Fetal Intestine Small	intestine
4	chr8:85239400-85240200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:85239600-85239800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:85239600-85239800	Enhancers	Spleen	Spleen
7	chr8:85240200-85241400	Enhancers	Fetal Intestine Small	intestine
8	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:85241200-85242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:85241200-85247200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:85241400-85242600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:85241400-85242800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:85242600-85245400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:85242600-85246000	Enhancers	Fetal Intestine Large	intestine
16	chr8:85242800-85244800	Enhancers	Fetal Intestine Small	intestine
17	chr8:85245400-85247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:85247200-85247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:85247200-85247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:85247200-85247600	Enhancers	Right Atrium	heart
21	chr8:85247200-85248600	Enhancers	Fetal Heart	heart
22	chr8:85247400-85249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:85247600-85249200	Enhancers	Fetal Brain Male	brain
24	chr8:85247800-85248600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:85248000-85248400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:85248000-85248600	Enhancers	Fetal Brain Female	brain
27	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
28	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
30	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:85265600-85266600	Enhancers	NH-A	brain
36	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:85265800-85267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:85265800-85267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:85265800-85267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:85266400-85268200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:85267200-85268200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:85268200-85268400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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