Variant report

Variant	esv15807
Chromosome Location	chr1:62654849-62657214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:62656643-62656653	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-L1TD1-1	chr1:62656194-62656598	NONHSAT003628
2	lnc-L1TD1-2	chr1:62655541-62655625	NONHSAT003627
3	lnc-L1TD1-2	chr1:62654803-62655175	NONHSAT003627

Variant related genes	Relation type
L1TD1	TF binding region
RPS15AP7	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577946433	chr1:62654864-62654865	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs558279421	chr1:62654921-62654922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576743348	chr1:62654944-62654945	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs538246679	chr1:62654946-62654947	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs75380838	chr1:62654959-62654960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs552710831	chr1:62654972-62654973	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs74790914	chr1:62654996-62654997	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542161986	chr1:62655034-62655035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563832535	chr1:62655070-62655071	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs575949242	chr1:62655084-62655085	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs546315226	chr1:62655085-62655086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541108313	chr1:62655090-62655091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564598560	chr1:62655095-62655096	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs552931641	chr1:62655116-62655117	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs182614853	chr1:62655130-62655131	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs184950686	chr1:62655177-62655178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74403686	chr1:62655180-62655181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201396062	chr1:62655211-62655212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71053304	chr1:62655214-62655215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372544107	chr1:62655245-62655246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529950698	chr1:62655258-62655259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200623876	chr1:62655294-62655295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200313525	chr1:62655295-62655296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201377615	chr1:62655301-62655302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199811388	chr1:62655321-62655322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554374838	chr1:62655347-62655348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189045769	chr1:62655361-62655362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569514469	chr1:62655368-62655369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368420495	chr1:62655378-62655379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536876749	chr1:62655384-62655385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551841746	chr1:62655402-62655403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12131144	chr1:62655429-62655430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs193141587	chr1:62655459-62655460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183473894	chr1:62655460-62655461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552887525	chr1:62655473-62655474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200792401	chr1:62655488-62655489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145141614	chr1:62655504-62655505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374289865	chr1:62655526-62655527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531160419	chr1:62655647-62655648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574359280	chr1:62655690-62655691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115180626	chr1:62655819-62655820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191660754	chr1:62655820-62655821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77101106	chr1:62655823-62655824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184100812	chr1:62655833-62655834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564683111	chr1:62655839-62655840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573256862	chr1:62655853-62655854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540370816	chr1:62655854-62655855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370308873	chr1:62655863-62655864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529318967	chr1:62655875-62655876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548060411	chr1:62655900-62655901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62646600-62660400	Weak transcription	Right Atrium	heart
2	chr1:62649800-62660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:62650400-62658400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62650400-62658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:62652000-62660200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:62656000-62657400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:62656800-62658600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:62657000-62657200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:62657200-62657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:62657200-62657400	Bivalent Enhancer	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links