Variant report

Variant	nsv891445
Chromosome Location	chr8:130152109-130224721
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130149841..130152661-chr8:130154667..130157656,3	K562	blood:
2	chr8:130149841..130152661-chr8:130154667..130157656,3	K562	blood:
3	chr12:8205025..8205674-chr8:130158364..130158919,2	MCF-7	breast:
4	chr8:130141276..130144083-chr8:130203489..130205820,2	K562	blood:
5	chr8:130156916..130159256-chr8:130161177..130163796,3	K562	blood:
6	chr8:130182571..130185285-chr8:130186635..130189207,2	K562	blood:
7	chr8:130189748..130191633-chr8:130201600..130203183,2	K562	blood:
8	chr8:130146864..130148911-chr8:130152437..130154077,2	K562	blood:
9	chr8:130189748..130191633-chr8:130201600..130203183,2	K562	blood:
10	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
11	chr8:130146463..130148945-chr8:130156682..130158557,2	K562	blood:
12	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:
13	chr8:130182571..130185285-chr8:130186635..130189207,2	K562	blood:
14	chr8:130142319..130144172-chr8:130152897..130155055,2	MCF-7	breast:
15	chr8:130156916..130159256-chr8:130161177..130163796,3	K562	blood:
16	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
17	chr8:130173757..130175474-chr8:130179542..130182537,2	MCF-7	breast:
18	chr8:130144005..130147540-chr8:130149814..130152182,3	K562	blood:
19	chr8:130173757..130175474-chr8:130179542..130182537,2	MCF-7	breast:
20	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:

No data

Extended variants
information (count: 2844 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:2844 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6981888	chr8:130152109-130152110	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569370663	chr8:130152123-130152124	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7001827	chr8:130152134-130152135	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533629954	chr8:130152212-130152213	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114382601	chr8:130152229-130152230	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116469265	chr8:130152245-130152246	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76550880	chr8:130152271-130152272	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74201660	chr8:130152302-130152303	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74409732	chr8:130152303-130152304	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6982195	chr8:130152304-130152305	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78125020	chr8:130152323-130152324	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76702284	chr8:130152354-130152355	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79928205	chr8:130152356-130152357	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77091462	chr8:130152357-130152358	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74555241	chr8:130152388-130152389	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79922687	chr8:130152396-130152397	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191896543	chr8:130152401-130152402	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116252818	chr8:130152441-130152442	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563451683	chr8:130152483-130152484	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553153692	chr8:130152490-130152491	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575356450	chr8:130152502-130152503	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540494294	chr8:130152518-130152519	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542846661	chr8:130152553-130152554	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375642358	chr8:130152582-130152583	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184254065	chr8:130152618-130152619	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560704403	chr8:130152647-130152648	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562133699	chr8:130152655-130152656	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546170548	chr8:130152693-130152694	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564553133	chr8:130152724-130152725	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118072586	chr8:130152730-130152731	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370542511	chr8:130152779-130152780	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529914946	chr8:130152856-130152857	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550414620	chr8:130152859-130152860	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568976514	chr8:130152896-130152897	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536446673	chr8:130152927-130152928	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75638725	chr8:130152931-130152932	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567155486	chr8:130152934-130152935	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534514006	chr8:130152938-130152939	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145633364	chr8:130152949-130152950	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112798486	chr8:130152969-130152970	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188882322	chr8:130152972-130152973	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77411336	chr8:130153024-130153025	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574923815	chr8:130153085-130153086	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181750940	chr8:130153122-130153123	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185649145	chr8:130153142-130153143	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76439504	chr8:130153165-130153166	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140870869	chr8:130153193-130153194	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150171413	chr8:130153216-130153217	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372511895	chr8:130153268-130153269	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550599552	chr8:130153269-130153270	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130126400-130160600	Weak transcription	Fetal Thymus	thymus
2	chr8:130146000-130158800	Genic enhancers	Dnd41	blood
3	chr8:130149200-130154400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:130149200-130154400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:130149400-130154400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:130150200-130154600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:130151400-130158000	Weak transcription	Thymus	Thymus
8	chr8:130151800-130152200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:130151800-130152200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:130154200-130154800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:130154200-130154800	Enhancers	Fetal Brain Male	brain
12	chr8:130154200-130154800	Enhancers	NHLF	lung
13	chr8:130154400-130154800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:130154400-130155200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:130154400-130155200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:130154400-130155600	Enhancers	A549	lung
17	chr8:130154600-130154800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:130155600-130156800	Weak transcription	A549	lung
19	chr8:130156800-130158000	Enhancers	A549	lung
20	chr8:130158000-130158800	Flanking Active TSS	A549	lung
21	chr8:130158800-130159400	Enhancers	A549	lung
22	chr8:130158800-130159800	Strong transcription	Dnd41	blood
23	chr8:130159800-130164200	Genic enhancers	Dnd41	blood
24	chr8:130160600-130160800	Strong transcription	Fetal Thymus	thymus
25	chr8:130160800-130161000	ZNF genes & repeats	Fetal Thymus	thymus
26	chr8:130161000-130174400	Weak transcription	Fetal Thymus	thymus
27	chr8:130162400-130162600	Enhancers	Fetal Muscle Leg	muscle
28	chr8:130162400-130163200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:130162800-130163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:130163000-130163200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:130163000-130163400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:130163200-130163400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:130163200-130163400	Enhancers	Fetal Muscle Leg	muscle
34	chr8:130163200-130163600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:130163200-130163600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:130163400-130163600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:130163600-130163800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:130163600-130164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:130163600-130174200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:130164200-130168200	Weak transcription	Dnd41	blood
41	chr8:130168200-130168600	ZNF genes & repeats	Dnd41	blood
42	chr8:130168600-130170200	Weak transcription	Dnd41	blood
43	chr8:130170000-130170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:130170000-130170400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr8:130170000-130170400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:130170000-130170400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:130170000-130170400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:130170200-130174600	ZNF genes & repeats	Dnd41	blood
49	chr8:130172400-130172800	Enhancers	HUVEC	blood vessel
50	chr8:130172800-130173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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