Variant report

Variant	nsv889910
Chromosome Location	chr8:3675634-3786543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
2	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
3	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:

Extended variants
information (count: 2806 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2623633	chr8:3675634-3675635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182379523	chr8:3675650-3675651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370360847	chr8:3675653-3675654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73504779	chr8:3675656-3675657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112319789	chr8:3675666-3675667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185657568	chr8:3675670-3675671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6995769	chr8:3675684-3675685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529866109	chr8:3675699-3675700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548339362	chr8:3675700-3675701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566976688	chr8:3675728-3675729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527747356	chr8:3675735-3675736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577628862	chr8:3675746-3675747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570905895	chr8:3675751-3675752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529152510	chr8:3675753-3675754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542564845	chr8:3675760-3675761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556594352	chr8:3675766-3675767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146783380	chr8:3675768-3675769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535673078	chr8:3675769-3675770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148937060	chr8:3675771-3675772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377154453	chr8:3675797-3675798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371025501	chr8:3675813-3675814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190708241	chr8:3675838-3675839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544959377	chr8:3675839-3675840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558205669	chr8:3675847-3675848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576467333	chr8:3675851-3675852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71203480	chr8:3675855-3675856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73172254	chr8:3675856-3675857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17067641	chr8:3675866-3675867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529954971	chr8:3675874-3675875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28448492	chr8:3675877-3675878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181447121	chr8:3675917-3675918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551582662	chr8:3675918-3675919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117000159	chr8:3675933-3675934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552733675	chr8:3675941-3675942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564537468	chr8:3675942-3675943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531630027	chr8:3675946-3675947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527822085	chr8:3675951-3675952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547385304	chr8:3675966-3675967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148118234	chr8:3675968-3675969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375496271	chr8:3675970-3675971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549614328	chr8:3675975-3675976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2720740	chr8:3675992-3675993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547679114	chr8:3676006-3676007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17067645	chr8:3676018-3676019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556600476	chr8:3676029-3676030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17067649	chr8:3676038-3676039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140808355	chr8:3676043-3676044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576845960	chr8:3676052-3676053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77647407	chr8:3676058-3676059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185891331	chr8:3676059-3676060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3672400-3676000	Weak transcription	Fetal Brain Male	brain
2	chr8:3674000-3681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:3675600-3676600	Enhancers	Liver	Liver
4	chr8:3676000-3676400	Enhancers	Fetal Brain Male	brain
5	chr8:3676200-3676400	Enhancers	Dnd41	blood
6	chr8:3676400-3676600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:3676400-3676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:3679200-3679800	Enhancers	Colonic Mucosa	Colon
9	chr8:3679600-3680200	Enhancers	Fetal Kidney	kidney
10	chr8:3679800-3683000	Weak transcription	Colonic Mucosa	Colon
11	chr8:3680000-3680600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:3681600-3682200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:3681800-3682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:3682000-3682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:3682200-3683200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:3683000-3683200	Enhancers	Colonic Mucosa	Colon
18	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
24	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
25	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
27	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:3705600-3706800	Enhancers	Liver	Liver
31	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:3706600-3707000	Active TSS	Duodenum Mucosa	Duodenum
35	chr8:3706800-3707000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:3707000-3708000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:3707400-3707600	Enhancers	Colonic Mucosa	Colon
38	chr8:3716600-3716800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:3716800-3717400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:3717000-3718000	Enhancers	Fetal Intestine Small	intestine
41	chr8:3717000-3720000	Enhancers	Fetal Intestine Large	intestine
42	chr8:3717400-3717600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:3717600-3718400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:3718000-3718400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:3718000-3718400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr8:3718200-3719000	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:3718400-3718800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr8:3718400-3720000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr8:3718400-3720400	Enhancers	Fetal Intestine Small	intestine
50	chr8:3718800-3719600	Enhancers	Pancreatic Islets	Pancreatic Islet

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