Variant report

Variant	nsv517057
Chromosome Location	chr18:293519-302224
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
2	chr18:292073..293974-chr18:294604..297450,2	K562	blood:
3	chr18:291631..293957-chr18:611359..613782,2	MCF-7	breast:
4	chr18:293279..294017-chr18:477353..478290,2	MCF-7	breast:
5	chr18:292073..293974-chr18:294604..297450,2	K562	blood:
6	chr18:248724..251192-chr18:298155..299664,2	K562	blood:
7	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
8	chr18:293551..294215-chr18:616120..617138,3	MCF-7	breast:
9	chr18:269653..272578-chr18:297355..299675,2	K562	blood:
10	chr18:300482..306131-chr18:306212..309352,5	K562	blood:
11	chr18:295698..298491-chr18:306221..309182,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079101	chromatin interactions

Extended variants
information (count: 350 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76246191	chr18:293560-293561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187006746	chr18:293562-293563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142393467	chr18:293581-293582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569743191	chr18:293582-293583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150914561	chr18:293594-293595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374187300	chr18:293655-293656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190501730	chr18:293656-293657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182776473	chr18:293669-293670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187070274	chr18:293684-293685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139406222	chr18:293691-293692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149995997	chr18:293695-293696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116063087	chr18:293751-293752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190043228	chr18:293805-293806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555523798	chr18:293824-293825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573909364	chr18:293838-293839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182674657	chr18:293840-293841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187849514	chr18:293892-293893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532918261	chr18:293896-293897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534955288	chr18:293962-293963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545027014	chr18:293988-293989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563186479	chr18:294001-294002	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551155	chr18:294021-294022	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574894161	chr18:294029-294030	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142321033	chr18:294041-294042	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568614667	chr18:294048-294049	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529465990	chr18:294049-294050	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547649246	chr18:294089-294090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144743838	chr18:294103-294104	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113910999	chr18:294118-294119	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539399980	chr18:294161-294162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558129112	chr18:294176-294177	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569985974	chr18:294266-294267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578184745	chr18:294297-294298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147897477	chr18:294440-294441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs599019	chr18:294495-294496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564460375	chr18:294550-294551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376301933	chr18:294567-294568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532907174	chr18:294569-294570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148885594	chr18:294618-294619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553259063	chr18:294655-294656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577998339	chr18:294700-294701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193142108	chr18:294736-294737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12955996	chr18:294745-294746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369706533	chr18:294748-294749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16942064	chr18:294757-294758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143545348	chr18:294761-294762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187700736	chr18:294768-294769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566491412	chr18:294779-294780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148072337	chr18:294780-294781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199746104	chr18:294815-294816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Thoracic aortic aneurysm	21092924	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:293600-294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:294000-294200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:294200-295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:294600-295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:295000-296600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:295200-297000	Enhancers	NHDF-Ad	bronchial
7	chr18:295400-296000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:295400-296600	Enhancers	Osteobl	bone
9	chr18:295400-297000	Enhancers	HUVEC	blood vessel
10	chr18:296000-296600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:296000-296600	Enhancers	Fetal Muscle Leg	muscle
12	chr18:296000-296600	Enhancers	Fetal Stomach	stomach
13	chr18:296600-297600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:297000-297800	Weak transcription	NHDF-Ad	bronchial
15	chr18:297000-301400	Weak transcription	HUVEC	blood vessel
16	chr18:297600-298600	Enhancers	K562	blood
17	chr18:297600-299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:297800-298200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr18:297800-298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:297800-298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:297800-298600	Enhancers	NHDF-Ad	bronchial
22	chr18:298600-302200	Weak transcription	K562	blood
23	chr18:298600-304800	Weak transcription	NHDF-Ad	bronchial
24	chr18:300800-301800	Enhancers	Fetal Lung	lung
25	chr18:301000-301400	Enhancers	Fetal Kidney	kidney
26	chr18:301400-302400	Enhancers	HUVEC	blood vessel
27	chr18:301800-303400	Weak transcription	Fetal Lung	lung
28	chr18:302000-302400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr18:302200-302400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:302200-302400	Enhancers	K562	blood
31	chr18:302200-302600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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