Variant report

Variant	nsv1018306
Chromosome Location	chr8:3667329-3843087
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	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
3	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
4	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
5	chr8:3804589..3807144-chr8:3807916..3809896,2	K562	blood:
6	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
7	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
8	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
9	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
10	chr8:3809576..3811430-chr8:3818354..3821115,2	K562	blood:
11	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
12	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
13	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
14	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:

No data

Extended variants
information (count: 8224 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:8224 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567032193	chr8:3667331-3667332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534386230	chr8:3667342-3667343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546766275	chr8:3667390-3667391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571345830	chr8:3667399-3667400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556149573	chr8:3667404-3667405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556883210	chr8:3667413-3667414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575470920	chr8:3667417-3667418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141535433	chr8:3667422-3667423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377276413	chr8:3667427-3667428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536500070	chr8:3667439-3667440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2954233	chr8:3667451-3667452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185604731	chr8:3667453-3667454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530653366	chr8:3667474-3667475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200335593	chr8:3667475-3667476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550683087	chr8:3667496-3667497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545254470	chr8:3667508-3667509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373583821	chr8:3667511-3667512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147528362	chr8:3667516-3667517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190157290	chr8:3667547-3667548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182107349	chr8:3667556-3667557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562870356	chr8:3667559-3667560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530328487	chr8:3667571-3667572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548943547	chr8:3667581-3667582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560768045	chr8:3667589-3667590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138551637	chr8:3667591-3667592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376392425	chr8:3667605-3667606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542810631	chr8:3667612-3667613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143789835	chr8:3667637-3667638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571271667	chr8:3667652-3667653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147269824	chr8:3667665-3667666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187867383	chr8:3667668-3667669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193015725	chr8:3667670-3667671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550310189	chr8:3667676-3667677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540817716	chr8:3667680-3667681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568795699	chr8:3667690-3667691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535860239	chr8:3667692-3667693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554488537	chr8:3667714-3667715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572779315	chr8:3667723-3667724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs118152063	chr8:3667733-3667734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184245411	chr8:3667741-3667742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188301474	chr8:3667753-3667754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140756617	chr8:3667768-3667769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371293902	chr8:3667781-3667782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373634053	chr8:3667786-3667787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562834745	chr8:3667808-3667809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376570360	chr8:3667814-3667815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574825690	chr8:3667820-3667821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149794800	chr8:3667839-3667840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530087466	chr8:3667860-3667861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144748644	chr8:3667863-3667864	Weak transcription Enhancers	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
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
Chordoma	21215367	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
Breast cancer	22522925	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3666600-3668000	Weak transcription	Liver	Liver
2	chr8:3667400-3669200	Enhancers	Fetal Intestine Small	intestine
3	chr8:3667600-3669600	Enhancers	Fetal Intestine Large	intestine
4	chr8:3668000-3668200	Enhancers	Liver	Liver
5	chr8:3668000-3669400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:3668200-3668600	Weak transcription	Liver	Liver
7	chr8:3668600-3669400	Enhancers	Liver	Liver
8	chr8:3668600-3670600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:3668800-3669200	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:3670000-3670600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:3672400-3676000	Weak transcription	Fetal Brain Male	brain
12	chr8:3673400-3673600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr8:3673400-3673600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr8:3673400-3674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr8:3673400-3674600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:3673600-3674000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:3673600-3674000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:3673800-3674000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr8:3674000-3681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:3675600-3676600	Enhancers	Liver	Liver
21	chr8:3676000-3676400	Enhancers	Fetal Brain Male	brain
22	chr8:3676200-3676400	Enhancers	Dnd41	blood
23	chr8:3676400-3676600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:3676400-3676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:3679200-3679800	Enhancers	Colonic Mucosa	Colon
26	chr8:3679600-3680200	Enhancers	Fetal Kidney	kidney
27	chr8:3679800-3683000	Weak transcription	Colonic Mucosa	Colon
28	chr8:3680000-3680600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:3681600-3682200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:3681800-3682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:3682000-3682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:3682200-3683200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:3683000-3683200	Enhancers	Colonic Mucosa	Colon
35	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
41	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
42	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum
43	chr8:3705200-3709200	Enhancers	Fetal Intestine Large	intestine
44	chr8:3705400-3706600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:3705600-3706200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr8:3705600-3706600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:3705600-3706800	Enhancers	Liver	Liver
48	chr8:3705600-3707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:3706000-3706200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr8:3706600-3706800	Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links