Variant report

Variant	nsv972215
Chromosome Location	chr8:87172741-87187057
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87177733..87179455-chr8:87185682..87188485,3	MCF-7	breast:
2	chr8:87169329..87173645-chr8:87175969..87178832,5	MCF-7	breast:
3	chr8:87175114..87176771-chr8:87353903..87355811,2	MCF-7	breast:
4	chr8:87186847..87188623-chr8:87190111..87192908,2	MCF-7	breast:
5	chr8:87177733..87179455-chr8:87185682..87188485,3	MCF-7	breast:
6	chr8:87180089..87182207-chr8:87303826..87306523,2	MCF-7	breast:
7	chr8:87180045..87182369-chr8:87352740..87355498,2	MCF-7	breast:
8	chr8:87140754..87142619-chr8:87176258..87179083,2	MCF-7	breast:
9	chr8:87175555..87177638-chr8:87179061..87180687,2	K562	blood:
10	chr8:87175555..87177638-chr8:87179061..87180687,2	K562	blood:
11	chr8:87169329..87173645-chr8:87175969..87178832,5	MCF-7	breast:
12	chr8:87186174..87188770-chr8:87209763..87212500,2	MCF-7	breast:
13	chr4:103729408..103730314-chr8:87178649..87179164,2	MCF-7	breast:
14	chr8:87185465..87188007-chr8:87211775..87213428,2	MCF-7	breast:
15	chr8:87144904..87147607-chr8:87176565..87179307,2	MCF-7	breast:
16	chr8:87121147..87123014-chr8:87175449..87177682,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123124	chromatin interactions
ENSG00000254231	chromatin interactions
ENSG00000253699	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370121922	chr8:87175116-87175117	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs72606619	chr8:87175133-87175134	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140965638	chr8:87175157-87175158	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536904000	chr8:87175184-87175185	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11997176	chr8:87175188-87175189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79706590	chr8:87175194-87175195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571565567	chr8:87175195-87175196	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11783432	chr8:87175197-87175198	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72606620	chr8:87175202-87175203	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146693769	chr8:87175220-87175221	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148269309	chr8:87175233-87175234	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184885766	chr8:87175241-87175242	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553067159	chr8:87175286-87175287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139663795	chr8:87175288-87175289	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572757524	chr8:87175301-87175302	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188375302	chr8:87175304-87175305	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544938732	chr8:87175316-87175317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564720480	chr8:87175340-87175341	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs67650717	chr8:87175364-87175365	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543689174	chr8:87175367-87175368	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540622333	chr8:87175373-87175374	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370039217	chr8:87175386-87175387	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529414874	chr8:87175423-87175424	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs115164205	chr8:87175426-87175427	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559752899	chr8:87175427-87175428	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372537368	chr8:87175433-87175434	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11997246	chr8:87175450-87175451	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551793275	chr8:87175457-87175458	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571534245	chr8:87175484-87175485	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs72606621	chr8:87175491-87175492	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78761136	chr8:87175493-87175494	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148857265	chr8:87175518-87175519	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs72606622	chr8:87175531-87175532	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7461255	chr8:87175556-87175557	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566605698	chr8:87175562-87175563	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191353398	chr8:87175583-87175584	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs4480105	chr8:87175587-87175588	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541150149	chr8:87175589-87175590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375240023	chr8:87175590-87175591	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs386727425	chr8:87175597-87175598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183533010	chr8:87175598-87175599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143436722	chr8:87175610-87175611	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542860332	chr8:87175624-87175625	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571647760	chr8:87175635-87175636	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11774727	chr8:87175652-87175653	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs150152702	chr8:87175664-87175665	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528620532	chr8:87175666-87175667	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs386727426	chr8:87175669-87175670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200147295	chr8:87175671-87175672	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565301464	chr8:87175678-87175679	Inactive region	Chromatin interactive region	2 gene(s)	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
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
Autism	20841430	CNVD
Breast cancer	21364760	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
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87177200-87180000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:87178400-87179000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:87178800-87180000	Enhancers	HepG2	liver
4	chr8:87179800-87180000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:87180000-87185400	Weak transcription	HepG2	liver
6	chr8:87180000-87187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:87185400-87186000	Enhancers	HepG2	liver
8	chr8:87185800-87186200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:87186000-87186200	Flanking Active TSS	HepG2	liver
10	chr8:87186000-87186400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:87186000-87186400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:87186000-87186400	Enhancers	Gastric	stomach
13	chr8:87186000-87186600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:87186000-87186800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:87186200-87186400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:87186200-87188400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:87186200-87189200	Enhancers	HepG2	liver
18	chr8:87186400-87186600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:87186400-87187400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:87186600-87186800	Enhancers	A549	lung
21	chr8:87186600-87187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:87186600-87188400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:87186800-87187800	Weak transcription	A549	lung
24	chr8:87186800-87188400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:87187000-87189800	Enhancers	Hela-S3	cervix

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