Variant report

Variant	nsv891443
Chromosome Location	chr8:130016499-130220746
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:66)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:130070425..130072160-chr8:130072184..130073752,2	MCF-7	breast:
2	chr8:130064582..130065481-chr8:130599333..130599837,2	MCF-7	breast:
3	chr8:130189748..130191633-chr8:130201600..130203183,2	K562	blood:
4	chr8:130149841..130152661-chr8:130154667..130157656,3	K562	blood:
5	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:
6	chr8:130133386..130135625-chr8:130146604..130148790,2	K562	blood:
7	chr8:130056568..130058887-chr8:130060600..130062336,2	K562	blood:
8	chr8:130189748..130191633-chr8:130201600..130203183,2	K562	blood:
9	chr8:130156916..130159256-chr8:130161177..130163796,3	K562	blood:
10	chr8:130100287..130102038-chr8:130102754..130104834,2	K562	blood:
11	chr8:128746070..128748632-chr8:130047093..130048841,2	K562	blood:
12	chr8:130133687..130135596-chr8:130141322..130143040,2	K562	blood:
13	chr8:130141276..130144083-chr8:130203489..130205820,2	K562	blood:
14	chr8:130149841..130152661-chr8:130154667..130157656,3	K562	blood:
15	chr8:130146864..130148911-chr8:130152437..130154077,2	K562	blood:
16	chr8:130121271..130122807-chr8:130124451..130126288,2	MCF-7	breast:
17	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:
18	chr8:130066357..130068020-chr8:130070091..130072052,2	K562	blood:
19	chr8:130133386..130135625-chr8:130146604..130148790,2	K562	blood:
20	chr8:130144005..130147540-chr8:130149814..130152182,3	K562	blood:
21	chr8:130128975..130131207-chr8:130134226..130136520,2	K562	blood:
22	chr8:130142319..130144172-chr8:130152897..130155055,2	MCF-7	breast:
23	chr12:8205025..8205674-chr8:130158364..130158919,2	MCF-7	breast:
24	chr8:130133021..130135254-chr8:130137855..130140230,2	K562	blood:
25	chr8:130066357..130068020-chr8:130070091..130072052,2	K562	blood:
26	chr8:130156916..130159256-chr8:130161177..130163796,3	K562	blood:
27	chr8:130133021..130135254-chr8:130137855..130140230,2	K562	blood:
28	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:
29	chr8:130141276..130144083-chr8:130203489..130205820,2	K562	blood:
30	chr8:130173757..130175474-chr8:130179542..130182537,2	MCF-7	breast:
31	chr8:130097867..130099434-chr8:130102615..130104893,2	K562	blood:
32	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
33	chr8:130121186..130123964-chr8:130124559..130126395,2	MCF-7	breast:
34	chr8:130089152..130091108-chr8:130093655..130097035,3	K562	blood:
35	chr8:130070425..130072160-chr8:130072184..130073752,2	MCF-7	breast:
36	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
37	chr8:130056568..130058887-chr8:130060600..130062336,2	K562	blood:
38	chr8:130061308..130064067-chr8:130069803..130071790,2	MCF-7	breast:
39	chr8:130080974..130082806-chr8:130092451..130094799,2	K562	blood:
40	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:
41	chr8:130089152..130091108-chr8:130093655..130097035,3	K562	blood:
42	chr8:130182571..130185285-chr8:130186635..130189207,2	K562	blood:
43	chr8:130134376..130135928-chr8:130138822..130140597,2	MCF-7	breast:
44	chr8:130144005..130147540-chr8:130149814..130152182,3	K562	blood:
45	chr8:130146463..130148945-chr8:130156682..130158557,2	K562	blood:
46	chr8:130146864..130148911-chr8:130152437..130154077,2	K562	blood:
47	chr8:130173757..130175474-chr8:130179542..130182537,2	MCF-7	breast:
48	chr8:130101158..130103152-chr8:130105792..130107982,2	K562	blood:
49	chr8:130061308..130064067-chr8:130069803..130071790,2	MCF-7	breast:
50	chr8:130086112..130089044-chr8:130090593..130093042,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYC-12	chr8:130084952-130085449	NONHSAT129105
2	lnc-MYC-12	chr8:130039860-130040272	NONHSAT129105
3	lnc-MYC-12	chr8:130072674-130073253	NONHSAT129105

No data

Variant related genes	Relation type
ENSG00000249375	chromatin interactions
ENSG00000136997	chromatin interactions

Extended variants
information (count: 7832 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:7832 , 50 per page) page: 1 2 3 4 5 6 7 ... 157

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7018275	chr8:130016499-130016500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35157858	chr8:130016542-130016543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575956580	chr8:130016547-130016548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536977845	chr8:130016551-130016552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114691315	chr8:130016553-130016554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573928436	chr8:130016559-130016560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7018315	chr8:130016620-130016621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559548134	chr8:130016622-130016623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578050121	chr8:130016634-130016635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191900841	chr8:130016640-130016641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201725042	chr8:130016743-130016744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140119673	chr8:130016763-130016764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184363302	chr8:130016774-130016775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529789587	chr8:130016799-130016800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549461152	chr8:130016802-130016803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561239768	chr8:130016820-130016821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528721573	chr8:130016830-130016831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546796508	chr8:130016919-130016920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34721518	chr8:130016968-130016969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571475997	chr8:130016981-130016982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539173204	chr8:130016982-130016983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551438157	chr8:130017002-130017003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554452557	chr8:130017004-130017005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569576872	chr8:130017013-130017014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537045680	chr8:130017048-130017049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555738563	chr8:130017049-130017050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16903947	chr8:130017064-130017065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534868517	chr8:130017103-130017104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540067976	chr8:130017161-130017162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558270413	chr8:130017177-130017178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577753395	chr8:130017278-130017279	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576639784	chr8:130017280-130017281	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11409047	chr8:130017307-130017308	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397714470	chr8:130017308-130017309	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376271408	chr8:130017309-130017310	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369479745	chr8:130017310-130017311	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557425938	chr8:130017327-130017328	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575592277	chr8:130017337-130017338	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114106086	chr8:130017342-130017343	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560903661	chr8:130017422-130017423	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528784772	chr8:130017439-130017440	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540487404	chr8:130017446-130017447	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556227184	chr8:130017455-130017456	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74558333	chr8:130017463-130017464	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532715554	chr8:130017505-130017506	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551232965	chr8:130017509-130017510	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532161693	chr8:130017550-130017551	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140499124	chr8:130017603-130017604	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530482527	chr8:130017678-130017679	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7835741	chr8:130017714-130017715	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130011800-130017200	Weak transcription	Osteobl	bone
2	chr8:130012000-130017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:130012000-130017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:130012200-130017200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:130014600-130017000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:130014600-130017200	Weak transcription	Fetal Stomach	stomach
7	chr8:130015000-130017000	Weak transcription	HSMMtube	muscle
8	chr8:130015400-130017000	Weak transcription	HSMM	muscle
9	chr8:130015400-130017200	Weak transcription	Dnd41	blood
10	chr8:130016000-130017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:130016000-130017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:130016400-130017400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:130016600-130018400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:130017000-130018000	Enhancers	HSMM	muscle
15	chr8:130017000-130018200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:130017000-130018200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:130017000-130018200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:130017000-130018400	Enhancers	HSMMtube	muscle
19	chr8:130017000-130019600	Enhancers	HMEC	breast
20	chr8:130017200-130017600	Enhancers	Fetal Brain Female	brain
21	chr8:130017200-130017600	Enhancers	Fetal Stomach	stomach
22	chr8:130017200-130017800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:130017200-130017800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130017200-130017800	Enhancers	Brain Hippocampus Middle	brain
25	chr8:130017200-130018000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:130017200-130018000	Enhancers	NH-A	brain
27	chr8:130017200-130018000	Enhancers	Osteobl	bone
28	chr8:130017200-130018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:130017200-130018200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:130017200-130018400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:130017200-130018400	Enhancers	NHDF-Ad	bronchial
32	chr8:130017200-130019400	Genic enhancers	Dnd41	blood
33	chr8:130017200-130019800	Enhancers	NHEK	skin
34	chr8:130017400-130017800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:130017400-130017800	Enhancers	Brain Anterior Caudate	brain
36	chr8:130017400-130017800	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:130017400-130017800	Enhancers	Brain Substantia Nigra	brain
38	chr8:130017400-130017800	Enhancers	Fetal Brain Male	brain
39	chr8:130017400-130017800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:130017400-130017800	Enhancers	A549	lung
41	chr8:130017400-130018200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:130017400-130018400	Enhancers	Fetal Muscle Leg	muscle
43	chr8:130017400-130019200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:130017600-130018000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:130017600-130020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:130018200-130019400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:130018400-130019400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:130019200-130020600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:130019400-130019800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:130019400-130019800	Enhancers	Dnd41	blood

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