Variant report

Variant	nsv1017086
Chromosome Location	chr8:36252557-36372332
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	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:
2	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:

Extended variants
information (count: 1875 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1875 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547741211	chr8:36252635-36252636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565716086	chr8:36252664-36252665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536234254	chr8:36252667-36252668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115487671	chr8:36252713-36252714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572587653	chr8:36252739-36252740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537093598	chr8:36252793-36252794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552619924	chr8:36271413-36271414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184766381	chr8:36271414-36271415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187821970	chr8:36271431-36271432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143499286	chr8:36271432-36271433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530616868	chr8:36271436-36271437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551908596	chr8:36271439-36271440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185945635	chr8:36271465-36271466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570735834	chr8:36271480-36271481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374567314	chr8:36271566-36271567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547793712	chr8:36271586-36271587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374677420	chr8:36271587-36271588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536775299	chr8:36271589-36271590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555089577	chr8:36271594-36271595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112214812	chr8:36271595-36271596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192260877	chr8:36271598-36271599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370357136	chr8:36271600-36271601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs71513788	chr8:36271603-36271604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs118052817	chr8:36271604-36271605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577480791	chr8:36271607-36271608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534977818	chr8:36271613-36271614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111980079	chr8:36271614-36271615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114537823	chr8:36271620-36271621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77225525	chr8:36271621-36271622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185155924	chr8:36271627-36271628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140222254	chr8:36271655-36271656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374711815	chr8:36271663-36271664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560773701	chr8:36271678-36271679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112145057	chr8:36271683-36271684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150309692	chr8:36271718-36271719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs137978121	chr8:36271724-36271725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114027524	chr8:36271726-36271727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149061798	chr8:36271750-36271751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530112315	chr8:36271752-36271753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200564231	chr8:36271765-36271766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73578626	chr8:36271769-36271770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570172002	chr8:36271780-36271781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568062467	chr8:36271783-36271784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73578627	chr8:36271784-36271785	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375028141	chr8:36271796-36271797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570941884	chr8:36271810-36271811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113767673	chr8:36271834-36271835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576162777	chr8:36271870-36271871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143740281	chr8:36271894-36271895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574745696	chr8:36271923-36271924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	19651600	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36252000-36252600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr8:36252200-36252800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:36271400-36273800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:36271600-36271800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:36271600-36272200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:36277600-36279000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:36279000-36282200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:36282200-36282800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:36282400-36282800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:36282800-36283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:36283800-36284000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:36283800-36285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:36284000-36284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:36284200-36285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:36284600-36285400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:36284800-36285200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:36285000-36287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:36285200-36296000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:36287000-36288000	Enhancers	Fetal Brain Male	brain
20	chr8:36287200-36288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:36296000-36297000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:36301400-36301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:36301800-36303200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:36303200-36308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:36305000-36306600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:36318600-36319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:36318800-36319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:36319000-36319400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:36331600-36333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:36332600-36333600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:36332800-36334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:36341600-36341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:36347600-36348200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:36347800-36348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:36348000-36348200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:36348000-36348400	Active TSS	NHEK	skin
37	chr8:36348200-36348400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:36348200-36348400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:36348200-36348800	Enhancers	Fetal Brain Male	brain
40	chr8:36348200-36349200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr8:36348200-36350000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:36348200-36353200	Enhancers	Brain Germinal Matrix	brain
43	chr8:36348400-36348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:36348400-36349200	Enhancers	Brain Angular Gyrus	brain
45	chr8:36348800-36352000	Weak transcription	Fetal Brain Male	brain
46	chr8:36350000-36351600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:36351600-36351800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:36352000-36352800	Enhancers	Fetal Brain Male	brain
49	chr8:36354000-36354200	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:36357000-36358000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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