Variant report

Variant	nsv891238
Chromosome Location	chr8:103055520-103116959
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103092184..103094951-chr8:103097737..103099786,2	MCF-7	breast:
2	chr8:103054616..103056405-chr8:103111193..103113703,2	MCF-7	breast:
3	chr8:103065341..103067614-chr8:103067758..103069814,2	MCF-7	breast:
4	chr8:103089569..103093166-chr8:103094266..103096675,3	K562	blood:
5	chr8:103092184..103094951-chr8:103097737..103099786,2	MCF-7	breast:
6	chr8:103073305..103075976-chr8:103083458..103085206,2	K562	blood:
7	chr8:103095933..103097861-chr8:103100230..103102303,2	MCF-7	breast:
8	chr8:103077871..103079434-chr8:103084965..103087880,2	K562	blood:
9	chr8:103105888..103108288-chr8:103119187..103121586,2	MCF-7	breast:
10	chr8:103073305..103075976-chr8:103083458..103085206,2	K562	blood:
11	chr8:103089569..103092563-chr8:103094266..103096164,2	K562	blood:
12	chr8:103053043..103055176-chr8:103059742..103061344,2	MCF-7	breast:
13	chr8:103044680..103045636-chr8:103079751..103080379,3	MCF-7	breast:
14	chr8:103082278..103084453-chr8:103115939..103117501,2	MCF-7	breast:
15	chr8:103054616..103056405-chr8:103111193..103113703,2	MCF-7	breast:
16	chr8:103111624..103115089-chr8:103119935..103122230,3	MCF-7	breast:
17	chr8:103077871..103079434-chr8:103084965..103087880,2	K562	blood:
18	chr8:103062774..103065761-chr8:103066216..103068204,2	K562	blood:
19	chr8:103084929..103087953-chr8:103089291..103092188,3	MCF-7	breast:
20	chr8:103088794..103091279-chr8:103132537..103134956,2	K562	blood:
21	chr8:103072599..103074575-chr8:103077448..103079035,2	MCF-7	breast:
22	chr8:103072599..103074575-chr8:103077448..103079035,2	MCF-7	breast:
23	chr8:103086669..103088305-chr8:103090497..103092888,2	K562	blood:
24	chr8:103084257..103086284-chr8:103112303..103114668,2	MCF-7	breast:
25	chr8:103100572..103102225-chr8:103104535..103106476,2	MCF-7	breast:
26	chr3:64276538..64278527-chr8:103104808..103106696,2	MCF-7	breast:
27	chr8:103103923..103106392-chr8:103121808..103124268,2	MCF-7	breast:
28	chr8:103086669..103088305-chr8:103090497..103092888,2	K562	blood:
29	chr8:103104191..103106408-chr8:103110112..103111638,2	MCF-7	breast:
30	chr8:103062774..103065761-chr8:103066216..103068204,2	K562	blood:
31	chr8:103084257..103086284-chr8:103112303..103114668,2	MCF-7	breast:
32	chr8:103112507..103115331-chr8:103120087..103122301,2	K562	blood:
33	chr8:103049817..103051629-chr8:103058338..103060575,3	MCF-7	breast:
34	chr8:103095933..103097861-chr8:103100230..103102303,2	MCF-7	breast:
35	chr8:103104191..103106408-chr8:103110112..103111638,2	MCF-7	breast:
36	chr8:103089569..103092563-chr8:103094266..103096164,2	K562	blood:
37	chr8:103084929..103087953-chr8:103089291..103092188,3	MCF-7	breast:
38	chr8:103082278..103084453-chr8:103115939..103117501,2	MCF-7	breast:
39	chr8:103089569..103093166-chr8:103094266..103096675,3	K562	blood:
40	chr8:103065341..103067614-chr8:103067758..103069814,2	MCF-7	breast:
41	chr8:103100572..103102225-chr8:103104535..103106476,2	MCF-7	breast:
42	chr8:94657213..94658713-chr8:103102291..103104933,2	MCF-7	breast:
43	chr20:52559805..52560624-chr8:103079902..103080677,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253781	chromatin interactions

Extended variants
information (count: 2131 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2131 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2051248	chr8:103055520-103055521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568208219	chr8:103055540-103055541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537033051	chr8:103055604-103055605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547766835	chr8:103055661-103055662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368356717	chr8:103055667-103055668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535221569	chr8:103055753-103055754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185546016	chr8:103055791-103055792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189300704	chr8:103055804-103055805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539120808	chr8:103055834-103055835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557749795	chr8:103055835-103055836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561486154	chr8:103055837-103055838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371519727	chr8:103055850-103055851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7017181	chr8:103055883-103055884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139700217	chr8:103055893-103055894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76706166	chr8:103055899-103055900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1269702	chr8:103055913-103055914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559244412	chr8:103055921-103055922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533486275	chr8:103055951-103055952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34555112	chr8:103055976-103055977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545143653	chr8:103055994-103055995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62518558	chr8:103055997-103055998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145748559	chr8:103056051-103056052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549739359	chr8:103056075-103056076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17498920	chr8:103056089-103056090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528747115	chr8:103056090-103056091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567159152	chr8:103056152-103056153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571714832	chr8:103056166-103056167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370043023	chr8:103056183-103056184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113544404	chr8:103056184-103056185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551165547	chr8:103056222-103056223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569345185	chr8:103056223-103056224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535893029	chr8:103056301-103056302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536638419	chr8:103056394-103056395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7018404	chr8:103056401-103056402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573609699	chr8:103056437-103056438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534582290	chr8:103056481-103056482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11776754	chr8:103056517-103056518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77427705	chr8:103056531-103056532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140634600	chr8:103056548-103056549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143363445	chr8:103056549-103056550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192637558	chr8:103056615-103056616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80158174	chr8:103056617-103056618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76412073	chr8:103056638-103056639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12334499	chr8:103056645-103056646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184328070	chr8:103056697-103056698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565500592	chr8:103056700-103056701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146727809	chr8:103056722-103056723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576941467	chr8:103056786-103056787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545657474	chr8:103056787-103056788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569407140	chr8:103056788-103056789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103051400-103056200	Weak transcription	Adipose Nuclei	Adipose
2	chr8:103051400-103056600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:103051600-103055800	Weak transcription	Fetal Brain Male	brain
4	chr8:103051600-103064600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:103053600-103057600	Enhancers	Ovary	ovary
6	chr8:103053800-103057000	Weak transcription	Psoas Muscle	Psoas
7	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
8	chr8:103054000-103056600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:103054200-103056200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:103054800-103056600	Weak transcription	Small Intestine	intestine
11	chr8:103054800-103057400	Enhancers	Fetal Heart	heart
12	chr8:103055000-103056600	Weak transcription	Right Atrium	heart
13	chr8:103055000-103057000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:103055000-103057000	Weak transcription	Left Ventricle	heart
15	chr8:103055400-103055800	Enhancers	Fetal Kidney	kidney
16	chr8:103055400-103056600	Weak transcription	Right Ventricle	heart
17	chr8:103055800-103056200	Enhancers	Fetal Brain Male	brain
18	chr8:103055800-103057000	Weak transcription	Fetal Kidney	kidney
19	chr8:103056200-103056600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:103056200-103056800	Enhancers	Adipose Nuclei	Adipose
21	chr8:103056600-103057200	Enhancers	Right Atrium	heart
22	chr8:103056600-103057200	Enhancers	Right Ventricle	heart
23	chr8:103056600-103057600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:103056600-103057600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:103056600-103066000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:103056800-103057200	Enhancers	Colon Smooth Muscle	Colon
27	chr8:103057000-103057200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:103057000-103057400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:103057000-103057400	Enhancers	GM12878-XiMat	blood
30	chr8:103057000-103057600	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:103057000-103057600	Enhancers	Left Ventricle	heart
32	chr8:103057000-103057600	Enhancers	Psoas Muscle	Psoas
33	chr8:103057200-103057400	Enhancers	Fetal Kidney	kidney
34	chr8:103057200-103058200	Enhancers	Small Intestine	intestine
35	chr8:103057200-103064600	Weak transcription	Right Atrium	heart
36	chr8:103057400-103057600	Flanking Active TSS	GM12878-XiMat	blood
37	chr8:103057400-103067200	Weak transcription	Fetal Heart	heart
38	chr8:103057400-103068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:103057600-103068600	Weak transcription	Left Ventricle	heart
40	chr8:103057600-103068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:103063200-103065800	Enhancers	Ovary	ovary
42	chr8:103063200-103066600	Enhancers	Fetal Brain Female	brain
43	chr8:103063400-103063600	Enhancers	Psoas Muscle	Psoas
44	chr8:103063400-103064600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:103063600-103064000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:103063600-103066600	Weak transcription	Psoas Muscle	Psoas
47	chr8:103063800-103067000	Enhancers	Fetal Brain Male	brain
48	chr8:103064000-103064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:103064000-103064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:103064200-103064400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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