Variant report

Variant	nsv982118
Chromosome Location	chr8:129880035-129884391
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:129865860..129869579-chr8:129877876..129880689,4	K562	blood:
2	chr8:129878873..129881112-chr8:129881741..129884417,2	K562	blood:
3	chr8:129878873..129881112-chr8:129881741..129884417,2	K562	blood:
4	chr8:129880648..129882498-chr8:129885129..129887830,2	K562	blood:
5	chr8:129883202..129885415-chr8:129894950..129896778,2	MCF-7	breast:
6	chr8:129868858..129872488-chr8:129878808..129881369,3	K562	blood:
7	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:

No data

Extended variants
information (count: 163 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2894458	chr8:129880075-129880076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73708228	chr8:129880092-129880093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183484336	chr8:129880196-129880197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557812500	chr8:129880228-129880229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567679520	chr8:129880263-129880264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528468833	chr8:129880268-129880269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546995843	chr8:129880275-129880276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200992725	chr8:129880309-129880310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75998942	chr8:129880310-129880311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534119632	chr8:129880311-129880312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71302335	chr8:129880321-129880322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55905290	chr8:129880353-129880354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61362466	chr8:129880359-129880360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375943613	chr8:129880417-129880418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571947884	chr8:129880472-129880473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71510381	chr8:129880480-129880481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115789088	chr8:129880494-129880495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59460028	chr8:129880500-129880501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35208480	chr8:129880535-129880536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373327524	chr8:129880542-129880543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186662298	chr8:129880564-129880565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144797318	chr8:129880572-129880573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147934892	chr8:129880602-129880603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10094688	chr8:129880650-129880651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552542271	chr8:129880685-129880686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372999766	chr8:129880687-129880688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577917913	chr8:129880703-129880704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544931736	chr8:129880744-129880745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145456091	chr8:129880788-129880789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200250009	chr8:129880807-129880808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116920643	chr8:129880821-129880822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543165488	chr8:129880863-129880864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191661432	chr8:129880892-129880893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528586006	chr8:129880900-129880901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115116349	chr8:129880919-129880920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565086304	chr8:129881013-129881014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574634536	chr8:129881069-129881070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532849480	chr8:129881159-129881160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554495072	chr8:129881197-129881198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111730818	chr8:129881264-129881265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145287729	chr8:129881298-129881299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4733532	chr8:129881299-129881300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs114334358	chr8:129881347-129881348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184135647	chr8:129881357-129881358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527460816	chr8:129881371-129881372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75016077	chr8:129881379-129881380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564201340	chr8:129881380-129881381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190184374	chr8:129881393-129881394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370885418	chr8:129881414-129881415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149135208	chr8:129881469-129881470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Gastric cancer	18160780	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129874600-129886200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:129875000-129887000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:129876200-129886200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:129877000-129885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:129879000-129880200	Enhancers	NHDF-Ad	bronchial
6	chr8:129879000-129881400	Enhancers	Osteobl	bone
7	chr8:129879000-129881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:129879600-129880800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:129879800-129881000	Weak transcription	NH-A	brain
10	chr8:129880000-129880800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:129880200-129880600	Weak transcription	NHDF-Ad	bronchial
12	chr8:129880600-129881600	Enhancers	NHDF-Ad	bronchial
13	chr8:129880800-129881000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:129880800-129881600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:129881000-129881400	Enhancers	NH-A	brain
16	chr8:129881000-129886600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:129881400-129886400	Weak transcription	NH-A	brain
18	chr8:129881400-129886400	Weak transcription	Osteobl	bone
19	chr8:129881600-129885800	Weak transcription	NHDF-Ad	bronchial
20	chr8:129881600-129886600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:129881600-129894200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:129882400-129882600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:129882400-129882800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:129882800-129888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:129884000-129884200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:129884200-129886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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