Variant report

Variant	nsv889904
Chromosome Location	chr8:3580368-3786543
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
2	chr12:52789360..52789970-chr8:3662803..3663781,2	MCF-7	breast:
3	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
4	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
5	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:
6	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
7	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
8	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:
9	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
10	chr12:57145579..57146089-chr8:3611408..3611928,2	Hela-S3	cervix:
11	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
12	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
13	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
14	chr12:52789382..52790150-chr8:3662781..3663283,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198056	chromatin interactions
ENSG00000025423	chromatin interactions

Extended variants
information (count: 8523 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:8523 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13270179	chr8:3580368-3580369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57767048	chr8:3580370-3580371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189626660	chr8:3580378-3580379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372298990	chr8:3580382-3580383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577423990	chr8:3580422-3580423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35048195	chr8:3580435-3580436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577778319	chr8:3580436-3580437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397774133	chr8:3580445-3580446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75238556	chr8:3580446-3580447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74392819	chr8:3580447-3580448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112527741	chr8:3580449-3580450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559570730	chr8:3580462-3580463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563835792	chr8:3580463-3580464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531346390	chr8:3580469-3580470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11998348	chr8:3580523-3580524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561558802	chr8:3580530-3580531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149858232	chr8:3580547-3580548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547332765	chr8:3580550-3580551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565982124	chr8:3580579-3580580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73658222	chr8:3580587-3580588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542053232	chr8:3580594-3580595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551638956	chr8:3580597-3580598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570147054	chr8:3580637-3580638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77758283	chr8:3580642-3580643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555849959	chr8:3580651-3580652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2720802	chr8:3580656-3580657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148989534	chr8:3580682-3580683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78375883	chr8:3580688-3580689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2720803	chr8:3580690-3580691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545187496	chr8:3580693-3580694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79285246	chr8:3580697-3580698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575711793	chr8:3580705-3580706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543123706	chr8:3580718-3580719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192112825	chr8:3580719-3580720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528835541	chr8:3580722-3580723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116769147	chr8:3580740-3580741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543394545	chr8:3580746-3580747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386721104	chr8:3580756-3580757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34027200	chr8:3580757-3580758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551578774	chr8:3580762-3580763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569837502	chr8:3580769-3580770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114205675	chr8:3580775-3580776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552516521	chr8:3580799-3580800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534857930	chr8:3580806-3580807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554453185	chr8:3580808-3580809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549169843	chr8:3580819-3580820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566014222	chr8:3580827-3580828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113366983	chr8:3580829-3580830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74707792	chr8:3580832-3580833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376727869	chr8:3580846-3580847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Ovarian cancer	22355333	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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	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:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3578400-3585600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3583400-3584000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:3583400-3585200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:3583600-3584800	Enhancers	HMEC	breast
5	chr8:3584800-3587400	Weak transcription	HMEC	breast
6	chr8:3587600-3587800	Enhancers	HMEC	breast
7	chr8:3590000-3590200	Enhancers	Liver	Liver
8	chr8:3592400-3593200	Enhancers	Liver	Liver
9	chr8:3592600-3592800	Enhancers	Pancreas	Pancrea
10	chr8:3592600-3593200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:3592800-3600400	Weak transcription	Pancreas	Pancrea
12	chr8:3593000-3593400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:3593200-3596600	Weak transcription	Liver	Liver
14	chr8:3594200-3594400	Enhancers	Fetal Intestine Large	intestine
15	chr8:3594200-3595200	Enhancers	Fetal Intestine Small	intestine
16	chr8:3594600-3595800	Weak transcription	Fetal Intestine Large	intestine
17	chr8:3595200-3596000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:3595800-3597400	Enhancers	Fetal Intestine Large	intestine
19	chr8:3596000-3597400	Enhancers	Fetal Intestine Small	intestine
20	chr8:3596600-3597800	Enhancers	Liver	Liver
21	chr8:3597400-3599200	Weak transcription	Fetal Intestine Large	intestine
22	chr8:3597400-3599200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:3599200-3599800	Enhancers	Fetal Intestine Small	intestine
24	chr8:3599200-3600800	Enhancers	Fetal Intestine Large	intestine
25	chr8:3599800-3600200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:3600200-3602400	Enhancers	Fetal Intestine Small	intestine
27	chr8:3600400-3600800	Enhancers	Pancreas	Pancrea
28	chr8:3616000-3617200	Enhancers	Fetal Intestine Small	intestine
29	chr8:3616200-3617000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:3616200-3617200	Enhancers	Fetal Intestine Large	intestine
31	chr8:3616800-3617000	Enhancers	Brain Anterior Caudate	brain
32	chr8:3617200-3618400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:3617200-3621000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:3617400-3618200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:3617400-3618400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:3617600-3618000	Enhancers	Fetal Lung	lung
37	chr8:3618200-3624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:3618400-3618600	Enhancers	Brain Anterior Caudate	brain
39	chr8:3618400-3618800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:3621000-3621600	Enhancers	Fetal Intestine Small	intestine
41	chr8:3621200-3622200	Enhancers	Fetal Muscle Leg	muscle
42	chr8:3621600-3621800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:3621600-3621800	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:3621800-3624600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:3622000-3623200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:3622200-3623200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:3622600-3623800	Enhancers	HMEC	breast
48	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:3623000-3623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:3623200-3624600	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links