Variant report

Variant	esv3584723
Chromosome Location	chr18:136240-143591
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
2	chr18:138088..139627-chr20:49345549..49348448,2	MCF-7	breast:
3	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
4	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
5	chr18:139586..141641-chr18:148416..149949,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP14-1	chr18:137413-137523	XLOC_012600
2	lnc-USP14-1	chr18:141481-142123	NONHSAT056828
3	lnc-USP14-1	chr18:137354-137523	NONHSAT056828
4	lnc-USP14-1	chr18:141481-141924	XLOC_012600

No data

Variant related genes	Relation type
ENSG00000124171	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7234528	chr18:136305-136306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140769529	chr18:136325-136326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534364254	chr18:136344-136345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530515617	chr18:136353-136354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558689611	chr18:136362-136363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576972673	chr18:136363-136364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550591107	chr18:136397-136398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185361939	chr18:136454-136455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556102008	chr18:136536-136537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574677554	chr18:136541-136542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542121505	chr18:136542-136543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559985867	chr18:136566-136567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570410732	chr18:136583-136584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188804204	chr18:136603-136604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6505761	chr18:136630-136631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs150464066	chr18:136638-136639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191826069	chr18:136691-136692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75749609	chr18:136722-136723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35033785	chr18:136723-136724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80226082	chr18:136724-136725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78168653	chr18:136725-136726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112519314	chr18:136750-136751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552861970	chr18:136801-136802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550730108	chr18:136834-136835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562887060	chr18:136954-136955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542922488	chr18:136960-136961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372481387	chr18:136976-136977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530011496	chr18:137016-137017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548887475	chr18:137018-137019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4797682	chr18:137059-137060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534402804	chr18:137062-137063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183897000	chr18:137068-137069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570607704	chr18:137073-137074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535297500	chr18:137092-137093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537929911	chr18:137096-137097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555243178	chr18:137103-137104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7227398	chr18:137129-137130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574395071	chr18:137145-137146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535058957	chr18:137202-137203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151011077	chr18:137224-137225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553659051	chr18:137258-137259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143106065	chr18:137303-137304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188334432	chr18:137330-137331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112855029	chr18:137353-137354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577304644	chr18:137374-137375	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs544711525	chr18:137377-137378	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs180943852	chr18:137400-137401	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs530111845	chr18:137439-137440	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs548564377	chr18:137453-137454	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs560808422	chr18:137494-137495	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:135600-136400	Weak transcription	K562	blood
2	chr18:136200-136800	Enhancers	HepG2	liver
3	chr18:136400-136600	Enhancers	K562	blood
4	chr18:136400-137200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr18:136400-137400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr18:136400-137600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr18:136600-137200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:136600-141800	Weak transcription	K562	blood
9	chr18:137000-137400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:140600-141800	Flanking Active TSS	HepG2	liver
11	chr18:141800-142200	Enhancers	HepG2	liver
12	chr18:141800-142600	Enhancers	K562	blood
13	chr18:142600-143000	Enhancers	HUVEC	blood vessel
14	chr18:142600-143000	Flanking Active TSS	K562	blood
15	chr18:143000-144000	Enhancers	K562	blood

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