Variant report

Variant	nsv1031521
Chromosome Location	chr8:8131347-8168474
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:73)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:8145925..8147772-chr8:8172599..8174671,2	MCF-7	breast:
2	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
3	chr8:8146324..8147133-chr8:8168152..8168656,2	MCF-7	breast:
4	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:
5	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
6	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
7	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
8	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
9	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
10	chr8:8146352..8147329-chr8:8172122..8173007,5	MCF-7	breast:
11	chr8:8141970..8144276-chr8:8242374..8245136,3	MCF-7	breast:
12	chr5:40835342..40835901-chr8:8146133..8146693,2	Hela-S3	cervix:
13	chr8:8155614..8158517-chr8:8163567..8165783,2	MCF-7	breast:
14	chr8:8155614..8158517-chr8:8163567..8165783,2	MCF-7	breast:
15	chr8:8094096..8094629-chr8:8147947..8148540,2	MCF-7	breast:
16	chr8:8146302..8147264-chr8:8365295..8366108,2	MCF-7	breast:
17	chr8:8152575..8156744-chr8:8165539..8169727,4	MCF-7	breast:
18	chr8:8151537..8155554-chr8:8160869..8164322,5	MCF-7	breast:
19	chr8:8151372..8154142-chr8:8175847..8177840,2	MCF-7	breast:
20	chr8:8147966..8148515-chr8:8336160..8336710,2	MCF-7	breast:
21	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
22	chr8:8151935..8153565-chr8:8167280..8169778,2	MCF-7	breast:
23	chr8:8153909..8155842-chr8:8254348..8256276,2	MCF-7	breast:
24	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
25	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
26	chr8:8151891..8153934-chr8:8240725..8244059,4	MCF-7	breast:
27	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
28	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
29	chr8:8146386..8147240-chr8:8365579..8366086,2	MCF-7	breast:
30	chr8:8147577..8148479-chr8:8171987..8172936,6	MCF-7	breast:
31	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
32	chr8:8147577..8148485-chr8:8171987..8172936,5	MCF-7	breast:
33	chr8:8147727..8148466-chr8:8172098..8172982,3	MCF-7	breast:
34	chr8:8163385..8165177-chr8:8167014..8169330,2	MCF-7	breast:
35	chr6:29980880..29981526-chr8:8153520..8154021,2	MCF-7	breast:
36	chr8:8146402..8147201-chr8:8172122..8172875,3	MCF-7	breast:
37	chr8:8147508..8148471-chr8:8365206..8366162,5	MCF-7	breast:
38	chr8:8148672..8150547-chr8:8158525..8160965,2	MCF-7	breast:
39	chr8:8094104..8095024-chr8:8146401..8147333,3	MCF-7	breast:
40	chr8:8147573..8150272-chr8:8166843..8168780,2	MCF-7	breast:
41	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
42	chr8:8154932..8157234-chrX:48930489..48933092,2	MCF-7	breast:
43	chr8:8146324..8147133-chr8:8168152..8168656,2	MCF-7	breast:
44	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
45	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
46	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
47	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
48	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
49	chr8:8134161..8136694-chr8:8559309..8560894,2	MCF-7	breast:
50	chr8:8151768..8153956-chr8:8305542..8308270,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRAGMIN.1-6	chr8:8150269-8151573	NONHSAT124869
2	lnc-PRAGMIN.1-6	chr8:8151715-8152356	NONHSAT124869

No data

Variant related genes	Relation type
ENSG00000182319	chromatin interactions
ENSG00000173295	chromatin interactions
ENSG00000243279	chromatin interactions
ENSG00000253958	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000176305	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000196998	chromatin interactions

Extended variants
information (count: 2105 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:2105 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17154921	chr8:8131347-8131348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377725038	chr8:8131359-8131360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189613018	chr8:8131375-8131376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60242670	chr8:8131410-8131411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549494079	chr8:8131423-8131424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181455706	chr8:8131443-8131444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536154127	chr8:8131457-8131458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556139010	chr8:8131460-8131461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572638945	chr8:8131533-8131534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548870133	chr8:8131534-8131535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558204563	chr8:8131555-8131556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559479900	chr8:8131585-8131586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111296944	chr8:8131589-8131590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578045678	chr8:8131590-8131591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117251441	chr8:8131592-8131593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563513374	chr8:8131595-8131596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573736938	chr8:8131600-8131601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186302342	chr8:8131607-8131608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138195089	chr8:8131610-8131611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527455647	chr8:8131630-8131631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191993765	chr8:8131668-8131669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564338457	chr8:8131669-8131670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532864422	chr8:8131692-8131693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549895982	chr8:8131721-8131722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149563486	chr8:8131731-8131732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183423719	chr8:8131732-8131733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549654101	chr8:8131738-8131739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570252372	chr8:8131765-8131766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371414678	chr8:8131778-8131779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188050807	chr8:8131810-8131811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74636844	chr8:8131812-8131813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566130462	chr8:8131816-8131817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535060009	chr8:8131821-8131822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544311931	chr8:8131838-8131839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140022400	chr8:8131852-8131853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578145802	chr8:8131881-8131882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373458398	chr8:8131884-8131885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557436140	chr8:8131932-8131933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79130585	chr8:8131948-8131949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141880589	chr8:8131954-8131955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561611569	chr8:8131978-8131979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571990516	chr8:8131994-8131995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541343362	chr8:8132021-8132022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564122243	chr8:8132023-8132024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146267335	chr8:8132026-8132027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148459113	chr8:8132028-8132029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17154940	chr8:8132035-8132036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191072529	chr8:8132057-8132058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528866266	chr8:8132074-8132075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549017487	chr8:8132098-8132099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8120800-8131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:8128400-8140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:8128600-8131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:8128800-8131600	Weak transcription	NHEK	skin
5	chr8:8128800-8131800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:8128800-8131800	Weak transcription	HMEC	breast
7	chr8:8128800-8132000	Weak transcription	Osteobl	bone
8	chr8:8128800-8132600	Enhancers	A549	lung
9	chr8:8128800-8142600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:8130400-8132000	Enhancers	Ovary	ovary
11	chr8:8130600-8133000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:8131000-8131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:8131000-8132000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:8131200-8131400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:8131200-8131400	Enhancers	HepG2	liver
16	chr8:8131200-8131600	Weak transcription	GM12878-XiMat	blood
17	chr8:8131400-8132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:8131600-8132000	Enhancers	GM12878-XiMat	blood
19	chr8:8131600-8132600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:8131600-8132600	Enhancers	NHEK	skin
21	chr8:8131800-8132000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:8131800-8132000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:8131800-8132200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:8131800-8132400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:8131800-8132400	Enhancers	HMEC	breast
26	chr8:8132000-8132400	Enhancers	Osteobl	bone
27	chr8:8132000-8133000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:8132600-8138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:8132600-8141200	Weak transcription	A549	lung
30	chr8:8132800-8133200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:8134000-8134600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:8134000-8135000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:8135800-8136000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:8136000-8136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:8136200-8136400	Enhancers	GM12878-XiMat	blood
36	chr8:8136200-8137200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:8136400-8137000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:8136400-8137000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:8136400-8137200	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:8136400-8137400	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:8136400-8137800	Enhancers	Primary T cells from cord blood	blood
42	chr8:8136600-8137400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:8136800-8137000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:8136800-8137200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:8136800-8137200	Enhancers	Dnd41	blood
46	chr8:8136800-8137400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:8136800-8137400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:8136800-8137400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:8137000-8137400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:8137200-8137400	Bivalent Enhancer	Dnd41	blood

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