Variant report

Variant	nsv8385
Chromosome Location	chr8:120149070-120161289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120147555..120150630-chr8:120219231..120222097,3	MCF-7	breast:
2	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
3	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 408 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148782674	chr8:120149100-120149101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569999808	chr8:120149103-120149104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13248362	chr8:120149108-120149109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537030460	chr8:120149144-120149145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13248613	chr8:120149149-120149150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558849903	chr8:120149162-120149163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566291750	chr8:120149172-120149173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13248655	chr8:120149187-120149188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13251028	chr8:120149205-120149206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13248685	chr8:120149214-120149215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553490831	chr8:120149229-120149230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565509314	chr8:120149296-120149297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371018875	chr8:120149323-120149324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75851061	chr8:120149368-120149369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558441907	chr8:120149373-120149374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541884036	chr8:120149408-120149409	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563155743	chr8:120149491-120149492	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181406176	chr8:120149502-120149503	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185771631	chr8:120149557-120149558	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545795651	chr8:120149594-120149595	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199838035	chr8:120149596-120149597	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73327282	chr8:120149612-120149613	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528352207	chr8:120149654-120149655	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528524734	chr8:120149655-120149656	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546477395	chr8:120149660-120149661	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568216133	chr8:120149691-120149692	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188824764	chr8:120149706-120149707	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181585948	chr8:120149714-120149715	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144297136	chr8:120149754-120149755	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569791605	chr8:120149785-120149786	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186095334	chr8:120149816-120149817	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147800150	chr8:120149871-120149872	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530664004	chr8:120149880-120149881	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535277885	chr8:120149929-120149930	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141072043	chr8:120149959-120149960	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574944142	chr8:120149966-120149967	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542044895	chr8:120149973-120149974	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541852444	chr8:120149983-120149984	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191977363	chr8:120150048-120150049	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575398454	chr8:120150050-120150051	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545821612	chr8:120150078-120150079	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564021266	chr8:120150109-120150110	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35760083	chr8:120150117-120150118	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562246727	chr8:120150152-120150153	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528414024	chr8:120150190-120150191	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540485748	chr8:120150197-120150198	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574572693	chr8:120150199-120150200	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145048118	chr8:120150237-120150238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529111992	chr8:120150270-120150271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182840246	chr8:120150281-120150282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120146200-120150200	Enhancers	Stomach Mucosa	stomach
2	chr8:120148000-120156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:120148600-120155400	Weak transcription	Fetal Intestine Small	intestine
4	chr8:120148800-120149600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:120149000-120149400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:120149400-120149600	Active TSS	Liver	Liver
7	chr8:120149400-120149800	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:120149600-120149800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:120149600-120150200	Flanking Active TSS	Liver	Liver
10	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
11	chr8:120155400-120156600	Enhancers	Fetal Intestine Small	intestine
12	chr8:120155600-120157200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
14	chr8:120155800-120156600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:120155800-120158000	Enhancers	NHEK	skin
16	chr8:120156000-120156400	Enhancers	Fetal Lung	lung
17	chr8:120156000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:120156000-120156400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:120156000-120156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:120156000-120157000	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:120156400-120156800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
24	chr8:120156600-120157000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:120156600-120157200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:120157000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:120157200-120157800	Enhancers	Fetal Intestine Small	intestine
30	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
32	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:120158000-120165200	Weak transcription	NHEK	skin
34	chr8:120158200-120159800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:120159000-120159800	Enhancers	Fetal Intestine Small	intestine
36	chr8:120159800-120160600	Weak transcription	Fetal Intestine Small	intestine
37	chr8:120159800-120162000	Enhancers	Fetal Intestine Large	intestine
38	chr8:120160400-120160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:120160600-120161000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:120160600-120161800	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:120160600-120162000	Enhancers	Fetal Intestine Small	intestine
42	chr8:120160800-120161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:120161000-120161400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:120161000-120161400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:120161000-120161600	Enhancers	HUES6 Cell Line	embryonic stem cell

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