Variant report

Variant	nsv909358
Chromosome Location	chr18:7685307-7693309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7684763..7686884-chr18:7689927..7692256,2	K562	blood:
2	chr18:7684763..7686884-chr18:7689927..7692256,2	K562	blood:

Extended variants
information (count: 329 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:329 , 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	rs660633	chr18:7685307-7685308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368379936	chr18:7685331-7685332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7240069	chr18:7685332-7685333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147619369	chr18:7685346-7685347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574876255	chr18:7685360-7685361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28674664	chr18:7685380-7685381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28524496	chr18:7685388-7685389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142129154	chr18:7685403-7685404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370311859	chr18:7685410-7685411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566105703	chr18:7685427-7685428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146164138	chr18:7685445-7685446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190227594	chr18:7685481-7685482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1664979	chr18:7685492-7685493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559384660	chr18:7685502-7685503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375672576	chr18:7685538-7685539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551465215	chr18:7685542-7685543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540272081	chr18:7685583-7685584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182774195	chr18:7685598-7685599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560284684	chr18:7685695-7685696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368421933	chr18:7685716-7685717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151234435	chr18:7685722-7685723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371155452	chr18:7685795-7685796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550899291	chr18:7685870-7685871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs657999	chr18:7685896-7685897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540373093	chr18:7685925-7685926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375463261	chr18:7685977-7685978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529415842	chr18:7685989-7685990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553224562	chr18:7685992-7685993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138656351	chr18:7685994-7685995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28497003	chr18:7686002-7686003	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140389448	chr18:7686027-7686028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150412639	chr18:7686049-7686050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117998613	chr18:7686051-7686052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543864115	chr18:7686085-7686086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563597195	chr18:7686155-7686156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562963248	chr18:7686204-7686205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574008010	chr18:7686222-7686223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371548864	chr18:7686225-7686226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531556332	chr18:7686229-7686230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372500358	chr18:7686258-7686259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551554786	chr18:7686294-7686295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535036945	chr18:7686315-7686316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551894003	chr18:7686387-7686388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374202510	chr18:7686511-7686512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138133301	chr18:7686521-7686522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202055752	chr18:7686569-7686570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74807823	chr18:7686580-7686581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75427508	chr18:7686581-7686582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186736883	chr18:7686587-7686588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141310697	chr18:7686626-7686627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7669600-7688400	Weak transcription	Aorta	Aorta
2	chr18:7680400-7685800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr18:7681600-7686000	Weak transcription	Small Intestine	intestine
4	chr18:7683200-7696600	Weak transcription	Fetal Lung	lung
5	chr18:7683400-7686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:7683400-7686000	Enhancers	Fetal Heart	heart
7	chr18:7683400-7686200	Enhancers	HMEC	breast
8	chr18:7683600-7686200	Enhancers	NHEK	skin
9	chr18:7683800-7686200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:7684200-7689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:7684200-7693800	Weak transcription	Lung	lung
12	chr18:7684200-7696600	Weak transcription	Right Atrium	heart
13	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:7684400-7685800	Enhancers	HSMMtube	muscle
15	chr18:7684400-7687000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:7684800-7685400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:7684800-7685400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:7684800-7685600	Enhancers	Left Ventricle	heart
19	chr18:7684800-7686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:7684800-7687200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:7685000-7685400	Enhancers	A549	lung
22	chr18:7685000-7685600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:7685000-7686200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:7685200-7685400	Enhancers	Psoas Muscle	Psoas
25	chr18:7685200-7685600	Weak transcription	Right Ventricle	heart
26	chr18:7685200-7686000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:7685200-7686000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:7685200-7694000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr18:7685400-7685800	Weak transcription	Psoas Muscle	Psoas
30	chr18:7685600-7686000	Weak transcription	Left Ventricle	heart
31	chr18:7685600-7686200	Enhancers	Right Ventricle	heart
32	chr18:7685800-7686000	Enhancers	Psoas Muscle	Psoas
33	chr18:7685800-7688800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:7686000-7686200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:7686000-7686200	Enhancers	Left Ventricle	heart
36	chr18:7686000-7686200	Enhancers	Small Intestine	intestine
37	chr18:7686000-7686800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:7686000-7688200	Weak transcription	Psoas Muscle	Psoas
39	chr18:7686000-7689400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:7686200-7688200	Weak transcription	Left Ventricle	heart
41	chr18:7686200-7688600	Weak transcription	Small Intestine	intestine
42	chr18:7686200-7691400	Weak transcription	Right Ventricle	heart
43	chr18:7687000-7689200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:7687200-7689000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:7688200-7689600	Enhancers	Left Ventricle	heart
46	chr18:7688200-7689800	Enhancers	Psoas Muscle	Psoas
47	chr18:7688400-7688600	Enhancers	Aorta	Aorta
48	chr18:7688600-7688800	Genic enhancers	Aorta	Aorta
49	chr18:7688800-7689400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr18:7688800-7689400	Weak transcription	Small Intestine	intestine

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