Variant report

Variant	nsv831388
Chromosome Location	chr8:89892722-90050937
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
2	chr5:134900665..134901406-chr8:90016865..90017446,2	MCF-7	breast:
3	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
4	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:
5	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:
6	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
7	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
8	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:
9	chr17:66790796..66791327-chr8:90031920..90032588,2	MCF-7	breast:
10	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:
11	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
12	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
13	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
14	chr8:89930914..89931750-chr8:90701140..90701846,2	MCF-7	breast:
15	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:
16	chr8:90014072..90014862-chr8:111171720..111172332,2	MCF-7	breast:
17	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
18	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
19	chr8:89931260..89931962-chr8:90629037..90630035,2	MCF-7	breast:
20	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
21	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 3526 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:3526 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542808021	chr8:89892766-89892767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564841806	chr8:89892791-89892792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145824591	chr8:89892802-89892803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140874229	chr8:89892810-89892811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79367457	chr8:89892842-89892843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555265034	chr8:89892848-89892849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368863466	chr8:89892860-89892861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576625987	chr8:89892865-89892866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3891312	chr8:89892874-89892875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543871451	chr8:89892913-89892914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560032723	chr8:89892994-89892995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559438009	chr8:89893006-89893007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186152426	chr8:89893095-89893096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370654538	chr8:89893102-89893103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191344590	chr8:89893110-89893111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374413278	chr8:89893138-89893139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375360098	chr8:89893147-89893148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377501096	chr8:89893161-89893162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367991251	chr8:89893179-89893180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371720988	chr8:89893187-89893188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541526576	chr8:89893233-89893234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145115998	chr8:89893240-89893241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375000629	chr8:89893269-89893270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530982226	chr8:89893270-89893271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527480901	chr8:89893298-89893299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547244563	chr8:89893299-89893300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138936295	chr8:89893303-89893304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369281379	chr8:89893305-89893306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142043432	chr8:89893337-89893338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367601490	chr8:89893340-89893341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531487049	chr8:89893351-89893352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549414068	chr8:89893375-89893376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182803879	chr8:89893405-89893406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538208060	chr8:89893467-89893468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547093957	chr8:89893469-89893470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565611500	chr8:89893490-89893491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536868644	chr8:89893525-89893526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371830863	chr8:89893560-89893561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554849170	chr8:89893572-89893573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35366531	chr8:89893576-89893577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117386797	chr8:89893591-89893592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548241823	chr8:89893600-89893601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200032335	chr8:89893637-89893638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58757979	chr8:89893657-89893658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539093517	chr8:89893676-89893677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7831063	chr8:89893677-89893678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71260258	chr8:89893680-89893681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375719746	chr8:89893709-89893710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112921416	chr8:89893728-89893729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576701188	chr8:89893730-89893731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89888800-89894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:89889000-89893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:89889000-89894000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:89889200-89894000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:89889200-89894200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:89889200-89894200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:89889400-89894000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:89889400-89894000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:89893800-89896800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:89894000-89894800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:89894000-89895600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:89894000-89896000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:89894000-89896200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:89894000-89896200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:89894200-89894400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:89894200-89895800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:89894200-89896200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:89894200-89896800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:89895200-89895400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:89895400-89896000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:89895600-89895800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:89895600-89896200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:89895600-89896400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:89895800-89896000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:89895800-89896000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:89895800-89896200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:89896000-89896200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:89896000-89896200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:89896000-89896200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:89896000-89896600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:89896200-89896800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:89896200-89898000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:89896600-89896800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:89897400-89898200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:89898000-89898800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr8:89905000-89905600	Enhancers	Left Ventricle	heart
37	chr8:89905000-89906600	Enhancers	Fetal Heart	heart
38	chr8:89905600-89906600	Weak transcription	Left Ventricle	heart
39	chr8:89906600-89906800	Enhancers	Left Ventricle	heart
40	chr8:89906600-89907400	Flanking Active TSS	Fetal Heart	heart
41	chr8:89907400-89909000	Enhancers	Fetal Heart	heart
42	chr8:89909200-89909600	Enhancers	Dnd41	blood
43	chr8:89925200-89925600	Enhancers	Hela-S3	cervix
44	chr8:89938000-89939200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:89938400-89938800	Enhancers	HMEC	breast
46	chr8:89938400-89939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:89938400-89939000	Enhancers	NHDF-Ad	bronchial
48	chr8:89938600-89939000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:89939000-89953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:89951000-89951800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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