Variant report

Variant	nsv1034833
Chromosome Location	chr8:3705722-3738105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1088 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2954215	chr8:3705722-3705723	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549252926	chr8:3705749-3705750	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373709009	chr8:3705788-3705789	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13260600	chr8:3705807-3705808	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187070591	chr8:3705813-3705814	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547095881	chr8:3705820-3705821	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115449873	chr8:3705827-3705828	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2954216	chr8:3705843-3705844	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557441584	chr8:3705868-3705869	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192333998	chr8:3705873-3705874	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116889809	chr8:3705875-3705876	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145037870	chr8:3705893-3705894	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183389602	chr8:3705894-3705895	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555689408	chr8:3705899-3705900	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548598745	chr8:3705901-3705902	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140531859	chr8:3705907-3705908	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541178125	chr8:3705917-3705918	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559804984	chr8:3705919-3705920	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201615656	chr8:3705933-3705934	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578006699	chr8:3705945-3705946	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545404908	chr8:3705955-3705956	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563569957	chr8:3705958-3705959	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2954217	chr8:3705996-3705997	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77593353	chr8:3706014-3706015	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151082029	chr8:3706017-3706018	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201498297	chr8:3706018-3706019	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528670497	chr8:3706022-3706023	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145636350	chr8:3706023-3706024	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148810930	chr8:3706038-3706039	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116976559	chr8:3706042-3706043	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539187359	chr8:3706044-3706045	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376885048	chr8:3706048-3706049	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551439996	chr8:3706050-3706051	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2975387	chr8:3706051-3706052	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182805495	chr8:3706084-3706085	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187239533	chr8:3706105-3706106	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114142930	chr8:3706106-3706107	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373605924	chr8:3706122-3706123	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2954218	chr8:3706138-3706139	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143443056	chr8:3706147-3706148	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2954219	chr8:3706150-3706151	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545214801	chr8:3706179-3706180	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563802087	chr8:3706196-3706197	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575239432	chr8:3706220-3706221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77982705	chr8:3706241-3706242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13262870	chr8:3706244-3706245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528731842	chr8:3706249-3706250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540900677	chr8:3706264-3706265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569971851	chr8:3706273-3706274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78865770	chr8:3706293-3706294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
2	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
3	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:3705600-3706800	Enhancers	Liver	Liver
7	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr8:3706600-3707000	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:3706800-3707000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:3707000-3708000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:3707400-3707600	Enhancers	Colonic Mucosa	Colon
14	chr8:3716600-3716800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:3716800-3717400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:3717000-3718000	Enhancers	Fetal Intestine Small	intestine
17	chr8:3717000-3720000	Enhancers	Fetal Intestine Large	intestine
18	chr8:3717400-3717600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:3717600-3718400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:3718000-3718400	Weak transcription	Fetal Intestine Small	intestine
21	chr8:3718000-3718400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:3718200-3719000	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:3718400-3718800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr8:3718400-3720000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:3718400-3720400	Enhancers	Fetal Intestine Small	intestine
26	chr8:3718800-3719600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:3725400-3725800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:3725800-3726600	Enhancers	Fetal Muscle Leg	muscle
29	chr8:3729600-3730000	Enhancers	Fetal Brain Male	brain
30	chr8:3734800-3736000	Enhancers	Fetal Intestine Small	intestine
31	chr8:3734800-3737400	Enhancers	Fetal Intestine Large	intestine
32	chr8:3736000-3736400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:3736400-3737200	Enhancers	Fetal Intestine Small	intestine

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