Variant report

Variant	nsv539363
Chromosome Location	chr8:3681898-3770783
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	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
2	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:

Extended variants
information (count: 2135 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2135 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180723675	chr8:3681923-3681924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542556623	chr8:3681934-3681935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150107196	chr8:3681944-3681945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531877890	chr8:3681955-3681956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528236195	chr8:3681959-3681960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540739376	chr8:3681991-3681992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7812367	chr8:3681995-3681996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185331378	chr8:3681996-3681997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551033915	chr8:3682015-3682016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145520549	chr8:3682022-3682023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7830364	chr8:3682023-3682024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548585298	chr8:3682038-3682039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375517552	chr8:3682045-3682046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376485348	chr8:3682052-3682053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534104909	chr8:3682088-3682089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536532337	chr8:3682117-3682118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189314861	chr8:3682123-3682124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570970028	chr8:3682125-3682126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564868995	chr8:3682143-3682144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368002371	chr8:3682152-3682153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149180681	chr8:3682161-3682162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117644793	chr8:3682174-3682175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542944696	chr8:3682180-3682181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567977142	chr8:3682189-3682190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554537120	chr8:3682195-3682196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78424477	chr8:3682196-3682197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540010701	chr8:3682197-3682198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565062211	chr8:3682200-3682201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372558423	chr8:3682201-3682202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7834175	chr8:3682207-3682208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562904277	chr8:3682215-3682216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7830539	chr8:3682217-3682218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548885598	chr8:3682234-3682235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567006625	chr8:3682245-3682246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139288989	chr8:3682247-3682248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368991404	chr8:3682252-3682253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117905697	chr8:3682271-3682272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7812827	chr8:3682278-3682279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115298450	chr8:3682280-3682281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143304336	chr8:3682285-3682286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182572360	chr8:3682287-3682288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535822480	chr8:3682332-3682333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554856862	chr8:3682341-3682342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147122613	chr8:3682349-3682350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529226092	chr8:3682369-3682370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540516544	chr8:3682370-3682371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186757151	chr8:3682372-3682373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191993627	chr8:3682389-3682390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181224374	chr8:3682393-3682394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562943118	chr8:3682397-3682398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3679800-3683000	Weak transcription	Colonic Mucosa	Colon
2	chr8:3681600-3682200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:3681800-3682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:3682000-3682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:3682200-3683200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:3683000-3683200	Enhancers	Colonic Mucosa	Colon
8	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
14	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
15	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
17	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:3705600-3706800	Enhancers	Liver	Liver
21	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr8:3706600-3707000	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:3706800-3707000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:3707000-3708000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:3707400-3707600	Enhancers	Colonic Mucosa	Colon
28	chr8:3716600-3716800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:3716800-3717400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:3717000-3718000	Enhancers	Fetal Intestine Small	intestine
31	chr8:3717000-3720000	Enhancers	Fetal Intestine Large	intestine
32	chr8:3717400-3717600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:3717600-3718400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:3718000-3718400	Weak transcription	Fetal Intestine Small	intestine
35	chr8:3718000-3718400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:3718200-3719000	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:3718400-3718800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:3718400-3720000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:3718400-3720400	Enhancers	Fetal Intestine Small	intestine
40	chr8:3718800-3719600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:3725400-3725800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:3725800-3726600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:3729600-3730000	Enhancers	Fetal Brain Male	brain
44	chr8:3734800-3736000	Enhancers	Fetal Intestine Small	intestine
45	chr8:3734800-3737400	Enhancers	Fetal Intestine Large	intestine
46	chr8:3736000-3736400	Weak transcription	Fetal Intestine Small	intestine
47	chr8:3736400-3737200	Enhancers	Fetal Intestine Small	intestine
48	chr8:3745800-3746200	Enhancers	Brain Substantia Nigra	brain
49	chr8:3745800-3746200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr8:3745800-3746400	Enhancers	Brain Cingulate Gyrus	brain

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