Variant report

Variant	nsv1031901
Chromosome Location	chr8:8107754-8145999
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
2	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
3	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
4	chr8:8144670..8146200-chr8:8236707..8239376,2	MCF-7	breast:
5	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
6	chr8:8134161..8136694-chr8:8559309..8560894,2	MCF-7	breast:
7	chr8:8125550..8129443-chr8:8243752..8245349,3	MCF-7	breast:
8	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
9	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
10	chr8:8108549..8111183-chr8:8240516..8242778,2	MCF-7	breast:
11	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
12	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
13	chr8:8130322..8131342-chr8:8527334..8528198,3	MCF-7	breast:
14	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
15	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
16	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
17	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
18	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
19	chr8:8101610..8104492-chr8:8112542..8114092,2	K562	blood:
20	chr8:8098254..8100230-chr8:8106571..8108592,2	K562	blood:
21	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
22	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
23	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
24	chr8:8145925..8147772-chr8:8172599..8174671,2	MCF-7	breast:
25	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
26	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
27	chr8:8141970..8144276-chr8:8242374..8245136,3	MCF-7	breast:
28	chr8:8144375..8149679-chr8:8240479..8246459,10	MCF-7	breast:
29	chr8:8101610..8104279-chr8:8111391..8114092,2	K562	blood:
30	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:
31	chr8:8101157..8102709-chr8:8124508..8126459,2	MCF-7	breast:
32	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
33	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
34	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
35	chr8:8130421..8131300-chr8:8175825..8176932,3	K562	blood:
36	chr8:8128010..8130864-chr8:8317877..8319814,2	MCF-7	breast:
37	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
38	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253981	chromatin interactions
ENSG00000173295	chromatin interactions
ENSG00000254153	chromatin interactions
ENSG00000176305	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000253958	chromatin interactions

Extended variants
information (count: 2076 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:2076 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375602523	chr8:8107754-8107755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143318079	chr8:8107775-8107776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192811860	chr8:8107866-8107867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78122084	chr8:8107871-8107872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183408118	chr8:8107875-8107876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112083014	chr8:8107897-8107898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191612014	chr8:8107939-8107940	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528815883	chr8:8107944-8107945	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555514892	chr8:8107969-8107970	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138872762	chr8:8107988-8107989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545009275	chr8:8107991-8107992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17154574	chr8:8107999-8108000	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2677999	chr8:8108023-8108024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575959532	chr8:8108052-8108053	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544939770	chr8:8108055-8108056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183712931	chr8:8108067-8108068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530213885	chr8:8108072-8108073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189741192	chr8:8108095-8108096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192950010	chr8:8108112-8108113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145691028	chr8:8108114-8108115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184552467	chr8:8108119-8108120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187214192	chr8:8108135-8108136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530682649	chr8:8108152-8108153	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537895094	chr8:8108174-8108175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550585878	chr8:8108194-8108195	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368076259	chr8:8108201-8108202	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557460221	chr8:8108205-8108206	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs138248512	chr8:8108238-8108239	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553171757	chr8:8108300-8108301	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190268287	chr8:8108324-8108325	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150592350	chr8:8108374-8108375	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76561248	chr8:8108437-8108438	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575325436	chr8:8108457-8108458	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544255936	chr8:8108471-8108472	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554963817	chr8:8108488-8108489	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115336126	chr8:8108500-8108501	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372652265	chr8:8108502-8108503	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117525548	chr8:8108521-8108522	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114305412	chr8:8108542-8108543	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181503893	chr8:8108546-8108547	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10095669	chr8:8108568-8108569	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562676504	chr8:8108569-8108570	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531575747	chr8:8108585-8108586	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139606587	chr8:8108603-8108604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561014895	chr8:8108658-8108659	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530009209	chr8:8108768-8108769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546429896	chr8:8108783-8108784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566692687	chr8:8108813-8108814	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538699876	chr8:8108821-8108822	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs367612541	chr8:8108915-8108916	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8086800-8108400	Weak transcription	NHEK	skin
2	chr8:8096200-8108400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:8100200-8108400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:8102200-8108400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:8102400-8111400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:8104400-8108200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:8104400-8108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:8104400-8108400	Weak transcription	Fetal Kidney	kidney
9	chr8:8104600-8108200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:8104600-8108400	Weak transcription	HepG2	liver
11	chr8:8105400-8108600	Weak transcription	Fetal Lung	lung
12	chr8:8106200-8108200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:8106200-8113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:8106600-8107800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:8106600-8108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:8106600-8108400	Weak transcription	A549	lung
17	chr8:8106800-8108400	Weak transcription	HMEC	breast
18	chr8:8107800-8108600	Enhancers	HUVEC	blood vessel
19	chr8:8107800-8108800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:8108200-8108600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:8108200-8108600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:8108200-8108600	Bivalent Enhancer	Left Ventricle	heart
23	chr8:8108200-8111200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:8108400-8109000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:8108400-8109200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:8108400-8109200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8108400-8109200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:8108400-8109200	Enhancers	Fetal Intestine Large	intestine
29	chr8:8108400-8109200	Enhancers	Fetal Kidney	kidney
30	chr8:8108400-8109400	Enhancers	A549	lung
31	chr8:8108400-8109600	Enhancers	HMEC	breast
32	chr8:8108400-8109600	Enhancers	NHEK	skin
33	chr8:8108400-8110000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:8108400-8110400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:8108400-8110600	Enhancers	Hela-S3	cervix
36	chr8:8108400-8111000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:8108400-8111600	Enhancers	HepG2	liver
38	chr8:8108600-8109600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:8108600-8109600	Flanking Active TSS	HUVEC	blood vessel
40	chr8:8108600-8109800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:8108600-8109800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:8108600-8109800	Enhancers	Fetal Lung	lung
43	chr8:8108600-8110400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:8108800-8109200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:8108800-8109200	Enhancers	HSMM	muscle
46	chr8:8108800-8109200	Bivalent Enhancer	Osteobl	bone
47	chr8:8108800-8110000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:8108800-8110200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:8109000-8109400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:8109000-8109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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