Variant report

Variant	nsv612110
Chromosome Location	chr8:120158372-120165257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185227413	chr8:120158387-120158388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190104204	chr8:120158559-120158560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56666904	chr8:120158564-120158565	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79949299	chr8:120158595-120158596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555614013	chr8:120158596-120158597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553308751	chr8:120158611-120158612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573535018	chr8:120158626-120158627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182073470	chr8:120158627-120158628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535631207	chr8:120158647-120158648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577983989	chr8:120158649-120158650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563486893	chr8:120158651-120158652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114270266	chr8:120158668-120158669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546187689	chr8:120158687-120158688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545482687	chr8:120158727-120158728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564287885	chr8:120158824-120158825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528801594	chr8:120158840-120158841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547002716	chr8:120158859-120158860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568752055	chr8:120158868-120158869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529561916	chr8:120158869-120158870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551150411	chr8:120158895-120158896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568985563	chr8:120158920-120158921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539128889	chr8:120158925-120158926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563791405	chr8:120158953-120158954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114298348	chr8:120158976-120158977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73327300	chr8:120158979-120158980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538277281	chr8:120159027-120159028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73329303	chr8:120159029-120159030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555282287	chr8:120159045-120159046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573595231	chr8:120159071-120159072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544004435	chr8:120159096-120159097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139394406	chr8:120159125-120159126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144165362	chr8:120159130-120159131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545952208	chr8:120159213-120159214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372996895	chr8:120159251-120159252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117657847	chr8:120159291-120159292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564580674	chr8:120159320-120159321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146485354	chr8:120159395-120159396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185425924	chr8:120159397-120159398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189514103	chr8:120159490-120159491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529574560	chr8:120159505-120159506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76019499	chr8:120159531-120159532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569447612	chr8:120159579-120159580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533549029	chr8:120159648-120159649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559268445	chr8:120159660-120159661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551222795	chr8:120159717-120159718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539045091	chr8:120159730-120159731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528582747	chr8:120159757-120159758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533598906	chr8:120159824-120159825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548522423	chr8:120159828-120159829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs114843804	chr8:120159839-120159840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
2	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
3	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:120158000-120165200	Weak transcription	NHEK	skin
8	chr8:120158200-120159800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:120159000-120159800	Enhancers	Fetal Intestine Small	intestine
10	chr8:120159800-120160600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:120159800-120162000	Enhancers	Fetal Intestine Large	intestine
12	chr8:120160400-120160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:120160600-120161000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:120160600-120161800	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:120160600-120162000	Enhancers	Fetal Intestine Small	intestine
16	chr8:120160800-120161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:120161000-120161400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:120161000-120161400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:120161000-120161600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:120161400-120161600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:120161400-120161800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:120161400-120164400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:120161600-120161800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:120161800-120162000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:120162000-120163600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:120163200-120165600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:120164200-120164600	Enhancers	Pancreas	Pancrea
28	chr8:120164400-120165200	Enhancers	Fetal Brain Male	brain
29	chr8:120164400-120165600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:120164400-120166000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:120164600-120165000	Enhancers	Aorta	Aorta
32	chr8:120164600-120166000	Enhancers	Liver	Liver
33	chr8:120164800-120165000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:120164800-120165000	Enhancers	Adipose Nuclei	Adipose
35	chr8:120165000-120165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:120165000-120165200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:120165000-120165200	Active TSS	Aorta	Aorta
38	chr8:120165000-120165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:120165000-120165400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr8:120165000-120165400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:120165000-120166000	Enhancers	Fetal Lung	lung
42	chr8:120165200-120165400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:120165200-120165400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:120165200-120165400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:120165200-120165400	Flanking Active TSS	Aorta	Aorta
46	chr8:120165200-120165400	Enhancers	NHEK	skin
47	chr8:120165200-120165600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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