Variant report

Variant	esv3370751
Chromosome Location	chr18:24809654-24813952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs547783703	chr18:24809700-24809701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147974531	chr18:24809717-24809718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539922817	chr18:24809719-24809720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183079508	chr18:24809732-24809733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570149638	chr18:24809757-24809758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537792606	chr18:24809766-24809767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569944895	chr18:24809776-24809777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187720379	chr18:24809833-24809834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574230891	chr18:24809849-24809850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535104664	chr18:24809850-24809851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57362702	chr18:24809867-24809868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571844491	chr18:24809875-24809876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545471136	chr18:24809894-24809895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373663409	chr18:24809955-24809956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567760413	chr18:24810001-24810002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142314454	chr18:24810029-24810030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576167208	chr18:24810067-24810068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533818814	chr18:24810112-24810113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543555292	chr18:24810183-24810184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561854383	chr18:24810213-24810214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570042186	chr18:24810220-24810221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529150156	chr18:24810241-24810242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541469521	chr18:24810243-24810244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559758162	chr18:24810250-24810251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534666109	chr18:24810294-24810295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201071690	chr18:24810295-24810296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367621361	chr18:24810411-24810412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551898806	chr18:24810480-24810481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570097052	chr18:24810485-24810486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141612556	chr18:24810510-24810511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193256252	chr18:24810576-24810577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567881000	chr18:24810589-24810590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572338314	chr18:24810606-24810607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7506996	chr18:24810662-24810663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1811332	chr18:24810679-24810680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs71589310	chr18:24810703-24810704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553380608	chr18:24810733-24810734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185734884	chr18:24810771-24810772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569677896	chr18:24810798-24810799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539005457	chr18:24810800-24810801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200715512	chr18:24810801-24810802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113412977	chr18:24810936-24810937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2611275	chr18:24810964-24810965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189415046	chr18:24810982-24810983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192461677	chr18:24811000-24811001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370780377	chr18:24811008-24811009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555520062	chr18:24811041-24811042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183905059	chr18:24811084-24811085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188633736	chr18:24811106-24811107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181429928	chr18:24811136-24811137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24804000-24811200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:24804800-24811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:24806800-24811200	Weak transcription	NHEK	skin
4	chr18:24807800-24811000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:24807800-24811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:24808000-24811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:24808000-24811200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:24808200-24811000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:24808200-24811000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr18:24808200-24811200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:24808200-24811200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:24808800-24809800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:24809200-24811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:24809400-24810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:24809800-24811200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:24810400-24813000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:24811000-24812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:24811000-24812000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:24811000-24812800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:24811000-24813400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:24811000-24814000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:24811200-24811600	Enhancers	NHEK	skin
23	chr18:24811200-24811800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:24811200-24811800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:24811200-24812000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr18:24811200-24812000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr18:24811200-24812000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:24811200-24813400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:24811200-24813600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr18:24811800-24822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:24812000-24813000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:24812200-24817000	Enhancers	Liver	Liver
33	chr18:24812600-24812800	Enhancers	Fetal Intestine Small	intestine
34	chr18:24812600-24813000	Enhancers	Duodenum Mucosa	Duodenum
35	chr18:24812800-24814000	Weak transcription	Fetal Intestine Small	intestine
36	chr18:24813000-24813400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:24813200-24813400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:24813400-24813600	Enhancers	Duodenum Mucosa	Duodenum
39	chr18:24813400-24813600	Enhancers	Fetal Intestine Large	intestine
40	chr18:24813600-24814800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr18:24813600-24815200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:24813800-24814800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links