Variant report

Variant	esv1816690
Chromosome Location	chr18:24539782-24572241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:24563994..24566667-chr18:24568829..24570336,2	K562	blood:
2	chr18:24563994..24566667-chr18:24568829..24570336,2	K562	blood:
3	chr18:24392703..24393679-chr18:24542716..24543961,5	MCF-7	breast:
4	chr18:24385096..24386862-chr18:24541525..24543667,2	MCF-7	breast:
5	chr18:24558208..24560365-chr18:24586834..24589687,2	K562	blood:
6	chr18:24564837..24566667-chr18:24568829..24570386,2	K562	blood:
7	chr18:24564837..24566667-chr18:24568829..24570386,2	K562	blood:

Extended variants
information (count: 1228 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12326646	chr18:24539782-24539783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575964037	chr18:24539787-24539788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536911438	chr18:24539828-24539829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182606951	chr18:24539858-24539859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141450305	chr18:24539865-24539866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541173060	chr18:24539929-24539930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559836141	chr18:24539981-24539982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578141354	chr18:24540019-24540020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368856124	chr18:24540032-24540033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187255656	chr18:24540065-24540066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192919732	chr18:24540097-24540098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs431383	chr18:24540105-24540106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183864119	chr18:24540109-24540110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549627749	chr18:24540120-24540121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150364653	chr18:24540121-24540122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528840575	chr18:24540131-24540132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547069777	chr18:24540182-24540183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565485900	chr18:24540183-24540184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547200222	chr18:24540185-24540186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs337292	chr18:24540243-24540244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551176765	chr18:24540268-24540269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371978341	chr18:24540295-24540296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569484925	chr18:24540320-24540321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565428105	chr18:24540513-24540514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536951023	chr18:24540524-24540525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188755099	chr18:24540625-24540626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573842163	chr18:24540662-24540663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535062470	chr18:24540726-24540727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553068576	chr18:24540755-24540756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578170059	chr18:24540761-24540762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545484902	chr18:24540830-24540831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200715694	chr18:24540835-24540836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9950196	chr18:24540901-24540902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117902998	chr18:24540957-24540958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138058977	chr18:24540965-24540966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576022957	chr18:24540979-24540980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149507829	chr18:24540998-24540999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79918300	chr18:24541005-24541006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143971286	chr18:24541057-24541058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558887227	chr18:24541119-24541120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76331552	chr18:24541173-24541174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193291550	chr18:24541174-24541175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569520853	chr18:24541180-24541181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537291543	chr18:24541189-24541190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555997011	chr18:24541244-24541245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545738655	chr18:24541292-24541293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548902114	chr18:24541304-24541305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574780824	chr18:24541343-24541344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567578731	chr18:24541344-24541345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534600370	chr18:24541347-24541348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24537400-24545000	Weak transcription	Brain Anterior Caudate	brain
2	chr18:24537600-24543600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:24537800-24541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr18:24538600-24543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr18:24538800-24540800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:24539000-24541000	Weak transcription	Ovary	ovary
7	chr18:24539400-24540800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:24540400-24540800	Enhancers	Colon Smooth Muscle	Colon
9	chr18:24540400-24540800	Enhancers	Fetal Heart	heart
10	chr18:24540600-24541000	Enhancers	HMEC	breast
11	chr18:24540600-24541200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:24540600-24542000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:24540800-24541000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:24540800-24542400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:24540800-24545200	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:24541000-24541200	Enhancers	Ovary	ovary
17	chr18:24541000-24542400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr18:24541200-24543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:24541200-24544600	Weak transcription	Ovary	ovary
20	chr18:24541600-24542400	Enhancers	Liver	Liver
21	chr18:24542000-24543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:24542400-24542800	Weak transcription	Liver	Liver
23	chr18:24542400-24549800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:24542400-24557600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:24542600-24543400	Enhancers	Pancreas	Pancrea
26	chr18:24542800-24543400	Enhancers	Liver	Liver
27	chr18:24543000-24543800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:24543200-24543400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr18:24543200-24543400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr18:24543200-24543400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr18:24543400-24544600	Weak transcription	Liver	Liver
32	chr18:24543400-24544600	Weak transcription	Pancreas	Pancrea
33	chr18:24543400-24544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:24543600-24543800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr18:24543800-24544000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr18:24543800-24547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:24544400-24545600	Enhancers	Psoas Muscle	Psoas
38	chr18:24544600-24545000	Enhancers	Right Ventricle	heart
39	chr18:24544600-24545000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr18:24544600-24545400	Enhancers	Ovary	ovary
41	chr18:24544600-24545600	Enhancers	Pancreas	Pancrea
42	chr18:24544600-24545800	Enhancers	Liver	Liver
43	chr18:24545000-24545200	Enhancers	Brain Anterior Caudate	brain
44	chr18:24545000-24545600	Enhancers	Stomach Smooth Muscle	stomach
45	chr18:24545200-24545600	Enhancers	Colon Smooth Muscle	Colon
46	chr18:24545600-24590400	Weak transcription	Pancreas	Pancrea
47	chr18:24546400-24547400	Enhancers	Brain Hippocampus Middle	brain
48	chr18:24546400-24547600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:24547000-24547200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr18:24547000-24547400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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