Variant report

Variant	esv2581967
Chromosome Location	chr1:145098265-145119537
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:52)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:145100208..145101760-chr1:145382453..145384619,2	MCF-7	breast:
2	chr1:145043102..145046639-chr1:145102991..145106582,3	K562	blood:
3	chr1:144993800..144995715-chr1:145096861..145099755,2	K562	blood:
4	chr1:145015783..145017477-chr1:145099868..145103885,3	K562	blood:
5	chr1:144534242..144535878-chr1:145109770..145112458,2	K562	blood:
6	chr1:144916772..144918364-chr1:145096684..145098671,2	MCF-7	breast:
7	chr1:145110007..145112621-chr1:149221905..149225544,4	MCF-7	breast:
8	chr1:145073673..145075611-chr1:145098058..145100166,2	MCF-7	breast:
9	chr1:145044375..145046639-chr1:145102991..145105034,2	K562	blood:
10	chr1:145098754..145101358-chr20:45981567..45984247,2	MCF-7	breast:
11	chr1:144532683..144535624-chr1:145114406..145116705,2	K562	blood:
12	chr1:145107602..145109757-chr1:145381655..145383784,3	MCF-7	breast:
13	chr1:145115000..145117272-chr1:145119775..145122289,2	MCF-7	breast:
14	chr1:145112491..145115929-chr1:145116059..145118132,3	MCF-7	breast:
15	chr1:145112983..145115902-chr1:149222378..149225281,4	MCF-7	breast:
16	chr1:145113190..145114713-chr1:145381480..145384448,2	MCF-7	breast:
17	chr1:145096186..145098889-chr12:66522673..66525529,2	MCF-7	breast:
18	chr1:145104369..145106152-chr1:145108416..145110142,2	MCF-7	breast:
19	chr1:144994180..144996711-chr1:145102764..145104750,2	K562	blood:
20	chr1:145110521..145113203-chr1:145271699..145274224,2	MCF-7	breast:
21	chr1:144930939..144933225-chr1:145098255..145100189,2	MCF-7	breast:
22	chr1:145028195..145030084-chr1:145108356..145110933,3	K562	blood:
23	chr1:145116552..145118106-chr1:145382522..145384612,2	MCF-7	breast:
24	chr1:144931751..144934554-chr1:145101929..145103446,2	MCF-7	breast:
25	chr1:145076679..145079296-chr1:145102825..145104399,2	MCF-7	breast:
26	chr1:145108662..145110529-chr1:145382748..145385386,2	K562	blood:
27	chr1:144930691..144932405-chr1:145101538..145103976,2	MCF-7	breast:
28	chr1:145116481..145119033-chr1:145122356..145124040,2	K562	blood:
29	chr1:145112612..145114533-chr20:60808919..60810723,2	MCF-7	breast:
30	chr1:144532668..144535961-chr1:145101125..145103299,5	K562	blood:
31	chr1:145096683..145099291-chr17:57931322..57933303,2	MCF-7	breast:
32	chr1:144533808..144536803-chr1:145107932..145113896,6	K562	blood:
33	chr1:145114002..145115916-chr1:145381740..145384383,2	MCF-7	breast:
34	chr1:145006961..145008693-chr1:145104666..145107384,2	K562	blood:
35	chr1:144931106..144933247-chr1:145112848..145115806,3	MCF-7	breast:
36	chr1:145057641..145059158-chr1:145100599..145102878,2	MCF-7	breast:
37	chr1:144987485..144989370-chr1:145102673..145104230,2	K562	blood:
38	chr1:145104369..145106152-chr1:145108416..145110142,2	MCF-7	breast:
39	chr1:145021531..145024475-chr1:145100250..145102590,2	K562	blood:
40	chr1:145070476..145072647-chr1:145097716..145099798,2	K562	blood:
41	chr1:145025247..145027949-chr1:145103213..145105927,2	K562	blood:
42	chr1:145069959..145072647-chr1:145097335..145099798,3	K562	blood:
43	chr1:144929981..144935077-chr1:145095230..145100493,10	MCF-7	breast:
44	chr1:145097859..145099647-chr1:147805751..147808247,2	K562	blood:
45	chr1:145073676..145075206-chr1:145114434..145117325,2	MCF-7	breast:
46	chr1:144928278..144930809-chr1:145113028..145115664,2	MCF-7	breast:
47	chr1:145082537..145085433-chr1:145102296..145104665,3	MCF-7	breast:
48	chr1:144532630..144535311-chr1:145098007..145100021,2	K562	blood:
49	chr1:145054217..145054913-chr1:145103284..145104051,2	K562	blood:
50	chr1:145112491..145115929-chr1:145116059..145118132,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-3	chr1:145112627-145113408	ucscGeneNc_uc001epf_1
2	lnc-NOTCH2NL-3	chr1:145110974-145111762	ucscGeneNc_uc001epf_1

No data

Variant related genes	Relation type
ENSG00000268172	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000273131	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000239335	chromatin interactions
ENSG00000139233	chromatin interactions
SMAD7	miRNA target sites
NSMAF	miRNA target sites

Extended variants
information (count: 817 )
Associated
traits (count: 179 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587709511	chr1:145098285-145098286	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs587613475	chr1:145098292-145098293	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs587657665	chr1:145098315-145098316	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs61319484	chr1:145098338-145098339	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs375295568	chr1:145098362-145098363	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs587692999	chr1:145098397-145098398	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs2590149	chr1:145098404-145098405	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs587751905	chr1:145098419-145098420	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs587648154	chr1:145098437-145098438	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs587684514	chr1:145098443-145098444	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs113864680	chr1:145098448-145098449	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs559681229	chr1:145098451-145098452	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs199955289	chr1:145098474-145098475	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs587732400	chr1:145098551-145098552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs371752924	chr1:145098587-145098588	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs587613718	chr1:145098588-145098589	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs587689137	chr1:145098589-145098590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs587751032	chr1:145098619-145098620	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs656833	chr1:145098620-145098621	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs587622327	chr1:145098649-145098650	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs587702230	chr1:145098653-145098654	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs4649776	chr1:145098657-145098658	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs587761722	chr1:145098683-145098684	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs2794068	chr1:145098782-145098783	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs587708779	chr1:145098796-145098797	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs71664031	chr1:145098932-145098933	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs587762688	chr1:145098968-145098969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs587642520	chr1:145098980-145098981	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs587717966	chr1:145098984-145098985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs587596845	chr1:145099010-145099011	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs587694725	chr1:145099023-145099024	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs111951081	chr1:145099053-145099054	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs587627358	chr1:145099156-145099157	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs7546101	chr1:145099262-145099263	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs587678723	chr1:145099369-145099370	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs10910750	chr1:145099400-145099401	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587739168	chr1:145099446-145099447	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs3910893	chr1:145099458-145099459	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs587609947	chr1:145099477-145099478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs386570219	chr1:145099495-145099496	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587742285	chr1:145099516-145099517	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587622582	chr1:145099559-145099560	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs587704035	chr1:145099562-145099563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587738864	chr1:145099577-145099578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs3910892	chr1:145099586-145099587	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs587634824	chr1:145099599-145099600	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs587685288	chr1:145099690-145099691	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587768607	chr1:145099744-145099745	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587631166	chr1:145099756-145099757	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs587694202	chr1:145099762-145099763	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:179)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145095800-145098800	Active TSS	Psoas Muscle	Psoas
2	chr1:145096000-145098400	Active TSS	Ovary	ovary
3	chr1:145096800-145113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:145097000-145098400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:145097000-145098400	Flanking Active TSS	Liver	Liver
6	chr1:145097000-145098400	Flanking Active TSS	NH-A	brain
7	chr1:145097000-145098800	Weak transcription	Spleen	Spleen
8	chr1:145097000-145099600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:145097000-145099600	Flanking Active TSS	Osteobl	bone
10	chr1:145097000-145100000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:145097000-145100000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:145097000-145100000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr1:145097200-145098800	Weak transcription	Gastric	stomach
14	chr1:145097200-145099000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:145097200-145100000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:145097200-145100000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:145097200-145100200	Weak transcription	Left Ventricle	heart
18	chr1:145097200-145100400	Enhancers	Small Intestine	intestine
19	chr1:145097200-145110600	Weak transcription	Pancreas	Pancrea
20	chr1:145097200-145110800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:145097400-145098400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:145097400-145098400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:145097400-145098800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:145097400-145098800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:145097400-145099400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:145097400-145099800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:145097400-145100000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:145097400-145100800	Weak transcription	Fetal Thymus	thymus
29	chr1:145097400-145101400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:145097400-145103400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:145097400-145113000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:145097400-145114200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:145097600-145099000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:145097600-145099000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:145097600-145099600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:145097600-145108600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:145097800-145098400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:145097800-145098400	Enhancers	Thymus	Thymus
39	chr1:145097800-145098600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:145097800-145099000	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:145097800-145099600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:145097800-145099600	Enhancers	Fetal Intestine Small	intestine
43	chr1:145097800-145099800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:145097800-145099800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:145097800-145099800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:145097800-145099800	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:145097800-145100000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:145097800-145100200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:145097800-145110800	Weak transcription	Fetal Stomach	stomach
50	chr1:145097800-145118000	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links