Variant report

Variant	nsv981973
Chromosome Location	chr8:107599981-107603945
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	chr8:107603658..107609458-chr8:107669183..107672502,7	MCF-7	breast:
2	chr8:106918479..106919292-chr8:107603720..107604631,2	MCF-7	breast:
3	chr8:107151368..107151962-chr8:107603809..107604341,2	MCF-7	breast:
4	chr8:107603766..107606561-chr8:107668197..107669821,2	MCF-7	breast:
5	chr8:107016322..107017410-chr8:107603753..107604682,5	MCF-7	breast:
6	chr8:107589621..107590429-chr8:107603675..107604668,5	MCF-7	breast:
7	chr8:106917185..106917788-chr8:107603831..107604640,2	MCF-7	breast:
8	chr8:106917815..106919520-chr8:107603747..107605061,5	MCF-7	breast:
9	chr8:106952181..106953106-chr8:107603771..107604489,3	MCF-7	breast:
10	chr8:106920154..106920891-chr8:107603707..107604258,2	K562	blood:
11	chr8:106920159..106921437-chr8:107603839..107604727,4	MCF-7	breast:
12	chr8:106951745..106953008-chr8:107603708..107604641,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253582	chromatin interactions
ENSG00000164830	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536416376	chr8:107599993-107599994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554823390	chr8:107600014-107600015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558208990	chr8:107600039-107600040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3110776	chr8:107600050-107600051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533858638	chr8:107600052-107600053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531853021	chr8:107600081-107600082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369775389	chr8:107600168-107600169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35772022	chr8:107600183-107600184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386413589	chr8:107600190-107600191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369801173	chr8:107600197-107600198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576772664	chr8:107600237-107600238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543868427	chr8:107600265-107600266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563967106	chr8:107600266-107600267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575549881	chr8:107600294-107600295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542784893	chr8:107600295-107600296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561129158	chr8:107600326-107600327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577776857	chr8:107600331-107600332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185407899	chr8:107600336-107600337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540717392	chr8:107600340-107600341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565237083	chr8:107600341-107600342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201955865	chr8:107600389-107600390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532494198	chr8:107600423-107600424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550711803	chr8:107600464-107600465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190257336	chr8:107600467-107600468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79088771	chr8:107600483-107600484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373916451	chr8:107600547-107600548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181716272	chr8:107600550-107600551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548540401	chr8:107600599-107600600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548291479	chr8:107600722-107600723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55837142	chr8:107600723-107600724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397798233	chr8:107600735-107600736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77356154	chr8:107600736-107600737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566664530	chr8:107600777-107600778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533796603	chr8:107600778-107600779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186728554	chr8:107600789-107600790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7460682	chr8:107600807-107600808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189483439	chr8:107600808-107600809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537815003	chr8:107600841-107600842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555764331	chr8:107600877-107600878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562364032	chr8:107600885-107600886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574125164	chr8:107600900-107600901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542903316	chr8:107600915-107600916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200548941	chr8:107600954-107600955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529513847	chr8:107600958-107600959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139724598	chr8:107600996-107600997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80244247	chr8:107601123-107601124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540477802	chr8:107601149-107601150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35107002	chr8:107601275-107601276	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs397891364	chr8:107601278-107601279	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74843363	chr8:107601279-107601280	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107590200-107601400	Weak transcription	Pancreas	Pancrea
3	chr8:107592400-107606600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:107594200-107601200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:107594800-107600600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:107600600-107601800	Enhancers	Fetal Intestine Large	intestine
7	chr8:107600800-107601800	Enhancers	Fetal Intestine Small	intestine
8	chr8:107601000-107601200	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:107601200-107601400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:107601200-107601400	Flanking Active TSS	A549	lung
11	chr8:107601200-107601400	Enhancers	HepG2	liver
12	chr8:107601200-107601600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:107601200-107601600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr8:107601200-107601600	Enhancers	Gastric	stomach
15	chr8:107601200-107601600	Enhancers	Stomach Mucosa	stomach
16	chr8:107601200-107602000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:107601200-107602000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:107601200-107602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:107601400-107601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:107601400-107601600	Enhancers	Pancreas	Pancrea
21	chr8:107601600-107606800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:107601600-107610200	Weak transcription	Stomach Mucosa	stomach
23	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:107601800-107606600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:107602000-107603800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:107602000-107604200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:107602200-107606000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:107603800-107604000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:107603800-107604000	Weak transcription	HepG2	liver
30	chr8:107603800-107604200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:107603800-107604200	Enhancers	Liver	Liver
32	chr8:107603800-107604200	Enhancers	HUVEC	blood vessel
33	chr8:107603800-107605000	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:107603800-107605000	Enhancers	GM12878-XiMat	blood

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