Variant report

Variant	nsv945916
Chromosome Location	chr1:45482107-45485685
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45483655..45486167-chr1:45802201..45804305,2	K562	blood:
2	chr1:45480602..45482201-chr1:45803688..45807288,4	K562	blood:
3	chr1:45484097..45484937-chr1:45766011..45766623,2	MCF-7	breast:
4	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
5	chr1:45483205..45483889-chr1:45765728..45766395,2	MCF-7	breast:
6	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
7	chr1:45484177..45484927-chr1:45695999..45696897,4	MCF-7	breast:
8	chr1:45475929..45480621-chr1:45481195..45486078,6	MCF-7	breast:
9	chr1:45483011..45483657-chr1:45764134..45764928,2	K562	blood:
10	chr1:45485526..45487934-chr1:45807215..45810160,2	K562	blood:
11	chr1:45285085..45286788-chr1:45483316..45485098,2	K562	blood:
12	chr1:45483477..45484967-chr1:45765750..45766657,4	K562	blood:
13	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
14	chr1:45484129..45484961-chr1:45769347..45770315,2	K562	blood:
15	chr1:45483996..45486300-chr1:45594488..45596026,2	K562	blood:
16	chr1:45482594..45485585-chr1:45656946..45658548,2	K562	blood:
17	chr1:45483402..45485551-chr1:45804133..45806888,2	K562	blood:
18	chr1:45483767..45484830-chr1:45695988..45696895,3	MCF-7	breast:
19	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
20	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
21	chr1:45252618..45255680-chr1:45481014..45484053,3	K562	blood:
22	chr1:45184531..45187337-chr1:45484420..45488341,4	K562	blood:
23	chr1:45482345..45484376-chr1:45808953..45810497,2	K562	blood:
24	chr1:45239135..45244789-chr1:45475459..45482236,15	K562	blood:
25	chr1:45272933..45277403-chr1:45480865..45483192,4	K562	blood:
26	chr1:45265885..45267445-chr1:45480826..45483713,2	K562	blood:
27	chr1:45265945..45268277-chr1:45482213..45483730,2	K562	blood:
28	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
29	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
30	chr1:45184531..45190715-chr1:45481425..45486664,6	K562	blood:
31	chr1:45483104..45484724-chr1:45490873..45492941,2	K562	blood:
32	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
33	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
34	chr1:45185920..45189252-chr1:45480937..45484378,4	K562	blood:
35	chr1:45476853..45482658-chr1:45802506..45807966,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202444	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000222009	chromatin interactions
ENSG00000117425	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000226499	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000188396	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000173846	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000126088	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78920799	chr1:45482122-45482123	Weak transcription Enhancers	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs540649198	chr1:45482155-45482156	Weak transcription Enhancers	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs146235412	chr1:45482188-45482189	Weak transcription Enhancers	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs560462492	chr1:45482241-45482242	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs529233659	chr1:45482279-45482280	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs542843227	chr1:45482360-45482361	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs35721254	chr1:45482371-45482372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs562583710	chr1:45482431-45482432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs187552148	chr1:45482440-45482441	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs56086606	chr1:45482456-45482457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs41306607	chr1:45482466-45482467	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192136801	chr1:45482479-45482480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs185038521	chr1:45482537-45482538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs571341102	chr1:45482631-45482632	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs527258926	chr1:45482651-45482652	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs547023179	chr1:45482656-45482657	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs189932868	chr1:45482660-45482661	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs535790992	chr1:45482689-45482690	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs371248465	chr1:45482721-45482722	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs192657662	chr1:45482728-45482729	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs375354636	chr1:45482750-45482751	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs555917382	chr1:45482754-45482755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs569308355	chr1:45482757-45482758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs548501655	chr1:45482765-45482766	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs375704899	chr1:45482791-45482792	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs538433682	chr1:45482810-45482811	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs557939421	chr1:45482820-45482821	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs372375955	chr1:45482830-45482831	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs578076512	chr1:45482831-45482832	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs376744032	chr1:45482864-45482865	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs540612673	chr1:45482874-45482875	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs548453133	chr1:45483021-45483022	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs554256831	chr1:45483032-45483033	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs368604315	chr1:45483050-45483051	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs140223641	chr1:45483059-45483060	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs542904632	chr1:45483079-45483080	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs142502451	chr1:45483083-45483084	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs531377323	chr1:45483140-45483141	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs369883773	chr1:45483153-45483154	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs545203303	chr1:45483175-45483176	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs3831960	chr1:45483218-45483219	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs41306605	chr1:45483255-45483256	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150935572	chr1:45483269-45483270	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs574973632	chr1:45483318-45483319	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs553965683	chr1:45483352-45483353	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs12061569	chr1:45483357-45483358	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560587594	chr1:45483361-45483362	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs41307902	chr1:45483386-45483387	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs117116015	chr1:45483505-45483506	Weak transcription Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs549361767	chr1:45483629-45483630	Weak transcription Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	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
Ewing''s sarcoma	21437220	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
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478400-45483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45478600-45482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
4	chr1:45478800-45482200	Weak transcription	Psoas Muscle	Psoas
5	chr1:45478800-45482600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:45478800-45484000	Weak transcription	Right Atrium	heart
7	chr1:45479000-45482800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:45479000-45483400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:45479000-45484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:45479000-45484200	Weak transcription	Esophagus	oesophagus
11	chr1:45479000-45485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:45479200-45484200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:45479400-45484200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:45479600-45482400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:45479600-45482400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:45479600-45484000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45479600-45484200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:45479600-45484400	Weak transcription	Right Ventricle	heart
20	chr1:45479800-45482200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:45479800-45482600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:45480600-45484200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:45480600-45484200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:45480800-45482800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:45480800-45483000	Weak transcription	Dnd41	blood
26	chr1:45480800-45484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:45480800-45484000	Weak transcription	Pancreas	Pancrea
28	chr1:45480800-45484200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:45480800-45484200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:45480800-45484200	Weak transcription	Fetal Heart	heart
31	chr1:45480800-45486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:45480800-45500600	Weak transcription	HepG2	liver
34	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
35	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:45481000-45484200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:45481000-45484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:45481000-45484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:45481200-45482800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:45481200-45483800	Weak transcription	Gastric	stomach
41	chr1:45481200-45483800	Weak transcription	Thymus	Thymus
42	chr1:45481200-45484000	Weak transcription	HSMMtube	muscle
43	chr1:45481200-45484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:45481200-45484200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:45481200-45484200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:45481200-45484200	Weak transcription	GM12878-XiMat	blood
47	chr1:45481200-45484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
49	chr1:45481200-45510200	Weak transcription	Lung	lung
50	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum

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