Variant report

Variant	nsv1029213
Chromosome Location	chr8:89841178-89951911
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89931260..89931962-chr8:90629037..90630035,2	MCF-7	breast:
2	chr8:89724996..89725850-chr8:89855566..89856466,2	MCF-7	breast:
3	chr8:89848601..89851264-chr8:89852497..89854514,2	MCF-7	breast:
4	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
5	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
6	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:
7	chr8:89848601..89851264-chr8:89852497..89854514,2	MCF-7	breast:
8	chr8:89877780..89878499-chrX:117700612..117701483,2	MCF-7	breast:
9	chr8:89930914..89931750-chr8:90701140..90701846,2	MCF-7	breast:
10	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
11	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
12	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 1972 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1972 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532270757	chr8:89853806-89853807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191166305	chr8:89853811-89853812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542640517	chr8:89853830-89853831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573907146	chr8:89853897-89853898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375721831	chr8:89853948-89853949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544511976	chr8:89854211-89854212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527901084	chr8:89854219-89854220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567224921	chr8:89854242-89854243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186687701	chr8:89854251-89854252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191999751	chr8:89854271-89854272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147208179	chr8:89854285-89854286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545249664	chr8:89854288-89854289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554483003	chr8:89854322-89854323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34220464	chr8:89854324-89854325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183530642	chr8:89854344-89854345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562679041	chr8:89854367-89854368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75658086	chr8:89854386-89854387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187621036	chr8:89854391-89854392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560947753	chr8:89854450-89854451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575986931	chr8:89854456-89854457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543558822	chr8:89854518-89854519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565018457	chr8:89854590-89854591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16887968	chr8:89854599-89854600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551302563	chr8:89854609-89854610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560269497	chr8:89854630-89854631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2338534	chr8:89854642-89854643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527596333	chr8:89854664-89854665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190933447	chr8:89854705-89854706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538520332	chr8:89854725-89854726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567312661	chr8:89854765-89854766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1124189	chr8:89854810-89854811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549928711	chr8:89854811-89854812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571236992	chr8:89854812-89854813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140548145	chr8:89854864-89854865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560163754	chr8:89854882-89854883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571292206	chr8:89854901-89854902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5893056	chr8:89854902-89854903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572553359	chr8:89854909-89854910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536556662	chr8:89854918-89854919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5893057	chr8:89854970-89854971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398086781	chr8:89854978-89854979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201554829	chr8:89854980-89854981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5893059	chr8:89854997-89854998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397807953	chr8:89855003-89855004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554840395	chr8:89855009-89855010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572459250	chr8:89855042-89855043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576057025	chr8:89855080-89855081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543397283	chr8:89855121-89855122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565248877	chr8:89855171-89855172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536069434	chr8:89855207-89855208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89853800-89854000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:89854200-89855400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:89855400-89856400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:89855400-89856400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:89855400-89856600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:89855600-89856400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:89855600-89856400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:89855600-89856600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:89855600-89856600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:89855800-89856200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:89855800-89856600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:89864400-89864800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:89864600-89865000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:89872200-89873000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr8:89872200-89873200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:89872600-89873000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:89872600-89873000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:89872600-89873000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:89872600-89873200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:89873000-89873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:89873000-89874600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:89873200-89873600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:89873600-89873800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:89874600-89874800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:89876000-89877000	Enhancers	Fetal Heart	heart
26	chr8:89880200-89885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:89885000-89885400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:89885400-89888000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:89887000-89889200	Enhancers	Fetal Heart	heart
30	chr8:89887800-89889400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:89888000-89888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:89888000-89888800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:89888000-89889000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr8:89888000-89889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:89888000-89889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:89888200-89889000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:89888200-89889200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:89888400-89888800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:89888800-89889200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:89888800-89894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:89889000-89893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:89889000-89894000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:89889200-89894000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:89889200-89894200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:89889200-89894200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:89889400-89894000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:89889400-89894000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:89893800-89896800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:89894000-89894800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:89894000-89895600	Enhancers	HUES48 Cell Line	embryonic stem cell

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