Variant report

Variant	nsv612104
Chromosome Location	chr8:120157288-120165257
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: 274 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72682455	chr8:120157294-120157295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149564988	chr8:120157343-120157344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143369645	chr8:120157354-120157355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528827150	chr8:120157359-120157360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192191779	chr8:120157362-120157363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139369425	chr8:120157450-120157451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143171145	chr8:120157452-120157453	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78691288	chr8:120157489-120157490	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117514444	chr8:120157519-120157520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4548209	chr8:120157583-120157584	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553252400	chr8:120157603-120157604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147505837	chr8:120157627-120157628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551078290	chr8:120157643-120157644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535517143	chr8:120157660-120157661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183720189	chr8:120157715-120157716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140110424	chr8:120157744-120157745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575349488	chr8:120157747-120157748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530469314	chr8:120157762-120157763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189112181	chr8:120157772-120157773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191119161	chr8:120157802-120157803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376114626	chr8:120157837-120157838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143517514	chr8:120157857-120157858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183630720	chr8:120157878-120157879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79200391	chr8:120157991-120157992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187009535	chr8:120158031-120158032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191851385	chr8:120158049-120158050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563419854	chr8:120158054-120158055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73327297	chr8:120158078-120158079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139440048	chr8:120158091-120158092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571135277	chr8:120158102-120158103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534965134	chr8:120158147-120158148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369823646	chr8:120158244-120158245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57681223	chr8:120158257-120158258	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568640057	chr8:120158266-120158267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546630856	chr8:120158298-120158299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536033276	chr8:120158305-120158306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557136657	chr8:120158356-120158357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568973308	chr8:120158357-120158358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185227413	chr8:120158387-120158388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190104204	chr8:120158559-120158560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56666904	chr8:120158564-120158565	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs79949299	chr8:120158595-120158596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555614013	chr8:120158596-120158597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553308751	chr8:120158611-120158612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573535018	chr8:120158626-120158627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182073470	chr8:120158627-120158628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535631207	chr8:120158647-120158648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577983989	chr8:120158649-120158650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563486893	chr8:120158651-120158652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs114270266	chr8:120158668-120158669	Weak transcription	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120150200-120161200	Weak transcription	Stomach Mucosa	stomach
2	chr8:120155600-120158200	Enhancers	Fetal Intestine Large	intestine
3	chr8:120155800-120158000	Enhancers	NHEK	skin
4	chr8:120156000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
6	chr8:120156800-120157800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr8:120157000-120157600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:120157000-120160600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:120157200-120157800	Enhancers	Fetal Intestine Small	intestine
10	chr8:120157200-120161000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:120157800-120159000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:120158000-120165200	Weak transcription	NHEK	skin
14	chr8:120158200-120159800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:120159000-120159800	Enhancers	Fetal Intestine Small	intestine
16	chr8:120159800-120160600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120159800-120162000	Enhancers	Fetal Intestine Large	intestine
18	chr8:120160400-120160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:120160600-120161000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:120160600-120161800	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:120160600-120162000	Enhancers	Fetal Intestine Small	intestine
22	chr8:120160800-120161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:120161000-120161400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:120161000-120161400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:120161000-120161600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:120161400-120161600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:120161400-120161800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:120161400-120164400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:120161600-120161800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:120161800-120162000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:120162000-120163600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:120163200-120165600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:120164200-120164600	Enhancers	Pancreas	Pancrea
34	chr8:120164400-120165200	Enhancers	Fetal Brain Male	brain
35	chr8:120164400-120165600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:120164400-120166000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:120164600-120165000	Enhancers	Aorta	Aorta
38	chr8:120164600-120166000	Enhancers	Liver	Liver
39	chr8:120164800-120165000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:120164800-120165000	Enhancers	Adipose Nuclei	Adipose
41	chr8:120165000-120165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:120165000-120165200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:120165000-120165200	Active TSS	Aorta	Aorta
44	chr8:120165000-120165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:120165000-120165400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:120165000-120165400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:120165000-120166000	Enhancers	Fetal Lung	lung
48	chr8:120165200-120165400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:120165200-120165400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:120165200-120165400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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