Variant report

Variant	nsv525216
Chromosome Location	chr1:10195940-10200574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10194866..10197025-chr1:10199036..10201040,2	K562	blood:
2	chr1:10194866..10197025-chr1:10199036..10201040,2	K562	blood:
3	chr1:10200210..10202495-chr1:10202617..10204188,2	K562	blood:
4	chr1:10001858..10004296-chr1:10197406..10200222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228150	chromatin interactions
ENSG00000173614	chromatin interactions
ENSG00000162441	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6671289	chr1:10195940-10195941	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6685910	chr1:10195970-10195971	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs541514285	chr1:10196015-10196016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538750086	chr1:10196025-10196026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144966569	chr1:10196063-10196064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185307265	chr1:10196125-10196126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530256142	chr1:10196159-10196160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575643440	chr1:10196215-10196216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572060095	chr1:10196220-10196221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116075454	chr1:10196266-10196267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114489388	chr1:10196309-10196310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369746054	chr1:10196343-10196344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372995397	chr1:10196348-10196349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141028646	chr1:10196436-10196437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576908985	chr1:10196445-10196446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80302867	chr1:10196474-10196475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112391309	chr1:10196510-10196511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190556379	chr1:10196534-10196535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576413191	chr1:10196541-10196542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6688779	chr1:10196553-10196554	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370413248	chr1:10196560-10196561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76251980	chr1:10196591-10196592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563603740	chr1:10196608-10196609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538135606	chr1:10196609-10196610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182234182	chr1:10196676-10196677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1830501	chr1:10196699-10196700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6691957	chr1:10196734-10196735	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186780695	chr1:10196769-10196770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9662454	chr1:10196807-10196808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115627613	chr1:10196843-10196844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191681496	chr1:10196859-10196860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554519211	chr1:10196861-10196862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576372311	chr1:10196862-10196863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545951311	chr1:10196864-10196865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564104156	chr1:10196874-10196875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181477543	chr1:10196881-10196882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559113998	chr1:10196882-10196883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9804105	chr1:10196910-10196911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541137851	chr1:10196929-10196930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559527981	chr1:10196959-10196960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185575848	chr1:10196960-10196961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190087537	chr1:10196974-10196975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372965293	chr1:10196978-10196979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563264465	chr1:10197002-10197003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530845466	chr1:10197006-10197007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35609175	chr1:10197023-10197024	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368472108	chr1:10197074-10197075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374276313	chr1:10197108-10197109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371708780	chr1:10197129-10197130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564326522	chr1:10197152-10197153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
2	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:10173000-10199400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:10175000-10207200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:10180000-10211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:10181000-10199600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:10182800-10211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
13	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:10185000-10201800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:10185200-10199200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:10185200-10201200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:10185400-10204400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:10185400-10207400	Strong transcription	Adipose Nuclei	Adipose
20	chr1:10185800-10211400	Weak transcription	A549	lung
21	chr1:10186000-10205800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:10186200-10207800	Strong transcription	Fetal Intestine Large	intestine
23	chr1:10186400-10197800	Strong transcription	Primary T cells from cord blood	blood
24	chr1:10186400-10199400	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:10186400-10207400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:10186600-10197600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:10186600-10197800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:10186600-10204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:10186600-10207200	Strong transcription	Liver	Liver
30	chr1:10186600-10207800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:10186600-10207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:10186800-10198800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:10186800-10201800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:10186800-10202000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:10187000-10197800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr1:10187000-10197800	Strong transcription	Thymus	Thymus
37	chr1:10187000-10201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10187200-10198000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:10187400-10197600	Strong transcription	Fetal Thymus	thymus
40	chr1:10187600-10197800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:10187600-10202000	Strong transcription	Placenta	Placenta
42	chr1:10187800-10197800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:10188000-10198000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:10188000-10200000	Strong transcription	Fetal Brain Female	brain
45	chr1:10188200-10198000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10188200-10198000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:10188200-10199600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:10188400-10197800	Strong transcription	Spleen	Spleen
49	chr1:10188400-10200200	Strong transcription	Fetal Intestine Small	intestine
50	chr1:10188400-10208200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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