Variant report

Variant	esv2757256
Chromosome Location	chr8:8337819-8411145
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:40)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
2	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
3	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
4	chr8:8147508..8148471-chr8:8365206..8366162,5	MCF-7	breast:
5	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
6	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
7	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
8	chr8:8317400..8319199-chr8:8344944..8347907,2	MCF-7	breast:
9	chr8:8241232..8244051-chr8:8373031..8376010,3	MCF-7	breast:
10	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
11	chr8:8146274..8147281-chr8:8365228..8366135,6	MCF-7	breast:
12	chr8:8405670..8408413-chr8:8410858..8412473,2	K562	blood:
13	chr8:8174141..8174643-chr8:8351385..8352080,2	K562	blood:
14	chr8:8398950..8401316-chr8:8404016..8406720,2	MCF-7	breast:
15	chr8:8402871..8405951-chr8:8409300..8411687,3	MCF-7	breast:
16	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
17	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
18	chr8:8373770..8375997-chr8:8384938..8387829,2	MCF-7	breast:
19	chr8:8336166..8336977-chr8:8365242..8366154,6	MCF-7	breast:
20	chr8:8395182..8397914-chr8:8412349..8414858,2	MCF-7	breast:
21	chr11:118505556..118506083-chr8:8380254..8381027,2	HCT-116	colon:
22	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
23	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
24	chr8:8353865..8355858-chr8:8364054..8366551,2	MCF-7	breast:
25	chr8:8360593..8362443-chr8:8363816..8365760,2	K562	blood:
26	chr8:8395034..8396944-chr8:8396976..8398934,2	MCF-7	breast:
27	chr8:8384527..8386241-chr8:8388279..8389863,2	MCF-7	breast:
28	chr8:8405511..8408091-chr8:8411497..8414103,2	MCF-7	breast:
29	chr8:8361888..8365563-chr8:8365721..8369530,3	MCF-7	breast:
30	chr8:8172038..8172585-chr8:8365267..8365778,2	MCF-7	breast:
31	chr8:8336166..8336956-chr8:8365242..8366153,3	MCF-7	breast:
32	chr8:8242030..8244345-chr8:8365871..8368384,3	MCF-7	breast:
33	chr8:8403320..8405523-chr8:8412097..8413733,2	K562	blood:
34	chr8:8237437..8239484-chr8:8365822..8367585,2	MCF-7	breast:
35	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:
36	chr8:8146386..8147240-chr8:8365579..8366086,2	MCF-7	breast:
37	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
38	chr8:8346656..8348719-chr8:8355280..8357515,2	K562	blood:
39	chr8:8234038..8235691-chr8:8350629..8352175,2	MCF-7	breast:
40	chr8:8369177..8371886-chr8:8372466..8374646,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-8	chr8:8340447-8340532	NONHSAT124876
2	lnc-PRAGMIN.1-8	chr8:8344925-8345359	NONHSAT124876

No data

Variant related genes	Relation type
ENSG00000182319	chromatin interactions
ENSG00000254153	chromatin interactions
ENSG00000019144	chromatin interactions

Extended variants
information (count: 4116 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:4116 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2979191	chr8:8337819-8337820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575623177	chr8:8337825-8337826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544613356	chr8:8337828-8337829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190232454	chr8:8337840-8337841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2976892	chr8:8337849-8337850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573599331	chr8:8337870-8337871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542557241	chr8:8337878-8337879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10503376	chr8:8337898-8337899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs148071028	chr8:8337899-8337900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2921033	chr8:8337909-8337910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2921032	chr8:8337911-8337912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553440538	chr8:8337921-8337922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181482292	chr8:8337931-8337932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59849535	chr8:8337953-8337954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535454937	chr8:8337960-8337961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554856800	chr8:8337961-8337962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545109947	chr8:8337971-8337972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530488366	chr8:8338002-8338003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574633251	chr8:8338008-8338009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185725065	chr8:8338038-8338039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141762021	chr8:8338066-8338067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536246385	chr8:8338080-8338081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538051216	chr8:8338097-8338098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189329444	chr8:8338114-8338115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567150731	chr8:8338121-8338122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150568385	chr8:8338137-8338138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558853065	chr8:8338140-8338141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2979192	chr8:8338147-8338148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537903865	chr8:8338153-8338154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570985611	chr8:8338158-8338159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554637737	chr8:8338165-8338166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574531514	chr8:8338184-8338185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552876088	chr8:8338202-8338203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180947236	chr8:8338207-8338208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539918146	chr8:8338208-8338209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545203403	chr8:8338212-8338213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553131836	chr8:8338217-8338218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2976893	chr8:8338219-8338220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs541830304	chr8:8338279-8338280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544363272	chr8:8338281-8338282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185224143	chr8:8338289-8338290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529743133	chr8:8338340-8338341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2979193	chr8:8338431-8338432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567171923	chr8:8338440-8338441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138568801	chr8:8338502-8338503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552743253	chr8:8338521-8338522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2979194	chr8:8338522-8338523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs190375749	chr8:8338538-8338539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149293864	chr8:8338570-8338571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2980736	chr8:8338592-8338593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:140)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8327400-8340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:8335200-8338800	Enhancers	Placenta	Placenta
3	chr8:8336800-8340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:8336800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8336800-8345000	Weak transcription	Right Atrium	heart
6	chr8:8337000-8338200	Weak transcription	HepG2	liver
7	chr8:8337000-8338400	Weak transcription	A549	lung
8	chr8:8337000-8341000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:8337000-8341000	Weak transcription	Pancreas	Pancrea
10	chr8:8337400-8341000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:8338200-8338800	Enhancers	Fetal Kidney	kidney
12	chr8:8338200-8338800	Enhancers	HepG2	liver
13	chr8:8338400-8338800	Enhancers	A549	lung
14	chr8:8338800-8339000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:8338800-8340200	Weak transcription	A549	lung
16	chr8:8338800-8340200	Weak transcription	HepG2	liver
17	chr8:8338800-8341000	Weak transcription	Placenta	Placenta
18	chr8:8339600-8340200	Enhancers	Hela-S3	cervix
19	chr8:8339600-8343000	Enhancers	Dnd41	blood
20	chr8:8339800-8341800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:8340000-8342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:8340200-8340400	Active TSS	A549	lung
23	chr8:8340200-8340600	Weak transcription	Hela-S3	cervix
24	chr8:8340200-8342000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:8340200-8342000	Enhancers	Fetal Thymus	thymus
26	chr8:8340200-8342000	Enhancers	HepG2	liver
27	chr8:8340400-8340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:8340400-8340600	Flanking Active TSS	A549	lung
29	chr8:8340400-8340600	Enhancers	NHEK	skin
30	chr8:8340400-8341200	Enhancers	NHDF-Ad	bronchial
31	chr8:8340400-8341400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:8340400-8341400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:8340400-8341600	Enhancers	Osteobl	bone
34	chr8:8340400-8341800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:8340400-8341800	Enhancers	GM12878-XiMat	blood
36	chr8:8340400-8342000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:8340400-8342000	Enhancers	HMEC	breast
38	chr8:8340400-8342000	Enhancers	NHLF	lung
39	chr8:8340600-8340800	Active TSS	A549	lung
40	chr8:8340600-8340800	Flanking Active TSS	NHEK	skin
41	chr8:8340600-8341200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:8340600-8341400	Enhancers	HSMMtube	muscle
43	chr8:8340600-8341600	Enhancers	Hela-S3	cervix
44	chr8:8340600-8341600	Enhancers	HSMM	muscle
45	chr8:8340800-8341000	Enhancers	NHEK	skin
46	chr8:8340800-8341200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr8:8340800-8341200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:8340800-8341400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:8340800-8341400	Enhancers	Primary T cells from cord blood	blood
50	chr8:8340800-8341400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links