Variant report

Variant	nsv612228
Chromosome Location	chr8:130115644-130130604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130121271..130122807-chr8:130124451..130126288,2	MCF-7	breast:
2	chr8:130128975..130131207-chr8:130134226..130136520,2	K562	blood:
3	chr8:130121186..130123964-chr8:130124559..130126395,2	MCF-7	breast:
4	chr8:130121271..130122807-chr8:130124451..130126288,2	MCF-7	breast:
5	chr8:130121186..130123964-chr8:130124559..130126395,2	MCF-7	breast:

Extended variants
information (count: 606 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7011330	chr8:130115644-130115645	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182816592	chr8:130115663-130115664	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574262132	chr8:130115666-130115667	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188799403	chr8:130115693-130115694	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553668502	chr8:130115694-130115695	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191653925	chr8:130115716-130115717	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144547657	chr8:130115732-130115733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148463002	chr8:130115737-130115738	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183941323	chr8:130115749-130115750	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530970003	chr8:130115784-130115785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143509192	chr8:130115793-130115794	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533795873	chr8:130115891-130115892	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147170918	chr8:130115926-130115927	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4367502	chr8:130115947-130115948	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572190052	chr8:130115982-130115983	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188790071	chr8:130116013-130116014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539412747	chr8:130116027-130116028	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534327336	chr8:130116116-130116117	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547202076	chr8:130116198-130116199	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557789871	chr8:130116209-130116210	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565588716	chr8:130116210-130116211	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576770450	chr8:130116215-130116216	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544169823	chr8:130116221-130116222	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533070633	chr8:130116246-130116247	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78675000	chr8:130116260-130116261	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191390089	chr8:130116289-130116290	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75897321	chr8:130116293-130116294	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555472005	chr8:130116328-130116329	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373386925	chr8:130116350-130116351	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12546355	chr8:130116356-130116357	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183958704	chr8:130116364-130116365	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78616896	chr8:130116388-130116389	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187082133	chr8:130116403-130116404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578154254	chr8:130116450-130116451	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541150460	chr8:130116454-130116455	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545362712	chr8:130116481-130116482	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35916368	chr8:130116530-130116531	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533270231	chr8:130116537-130116538	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557664416	chr8:130116585-130116586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575523587	chr8:130116604-130116605	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28459683	chr8:130116645-130116646	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563350189	chr8:130116664-130116665	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561009459	chr8:130116675-130116676	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573007197	chr8:130116683-130116684	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191885369	chr8:130116715-130116716	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559271009	chr8:130116727-130116728	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184226863	chr8:130116740-130116741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550078842	chr8:130116775-130116776	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190119103	chr8:130116795-130116796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28628837	chr8:130116805-130116806	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:151)

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
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
Acute myeloid leukemia	20729466	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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130110800-130116000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130110800-130116000	Weak transcription	Pancreas	Pancrea
3	chr8:130110800-130116000	Weak transcription	Thymus	Thymus
4	chr8:130113200-130116000	Strong transcription	Fetal Thymus	thymus
5	chr8:130115000-130119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130115200-130116400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:130115200-130119000	Enhancers	NHEK	skin
8	chr8:130115200-130119200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:130115400-130116200	Enhancers	K562	blood
10	chr8:130115400-130116400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:130115400-130118600	Enhancers	HMEC	breast
12	chr8:130115400-130118800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:130115400-130119000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130115600-130116400	Enhancers	Placenta	Placenta
15	chr8:130115600-130126800	Genic enhancers	Dnd41	blood
16	chr8:130115800-130116000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:130116000-130116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:130116000-130116400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:130116000-130116400	ZNF genes & repeats	Fetal Thymus	thymus
20	chr8:130116000-130116400	Enhancers	Left Ventricle	heart
21	chr8:130116000-130116400	Enhancers	Pancreas	Pancrea
22	chr8:130116000-130116400	Strong transcription	Thymus	Thymus
23	chr8:130116000-130117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130116200-130116400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:130116200-130124400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:130116400-130117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:130116400-130118000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:130116400-130118000	Weak transcription	Fetal Thymus	thymus
29	chr8:130116400-130119400	Weak transcription	Thymus	Thymus
30	chr8:130116400-130126000	Weak transcription	Pancreas	Pancrea
31	chr8:130116400-130127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:130117200-130117400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:130117200-130117600	Enhancers	Fetal Lung	lung
34	chr8:130117200-130117800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:130117200-130117800	Enhancers	Fetal Kidney	kidney
36	chr8:130117200-130118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:130117400-130118000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:130117400-130118200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:130117600-130118000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:130118000-130118400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:130118000-130118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:130118000-130118800	ZNF genes & repeats	Fetal Thymus	thymus
43	chr8:130118200-130124000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:130118400-130121600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:130118800-130125400	Weak transcription	Fetal Thymus	thymus
46	chr8:130119400-130120000	ZNF genes & repeats	Thymus	Thymus
47	chr8:130120000-130129800	Weak transcription	Thymus	Thymus
48	chr8:130123800-130124600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:130123800-130125000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:130124000-130124200	Enhancers	HUES48 Cell Line	embryonic stem cell

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