Variant report

Variant	nsv437177
Chromosome Location	chr18:29029768-29039283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29038234..29040822-chr18:29041279..29043976,2	MCF-7	breast:
2	chr18:29038496..29040369-chr18:29042094..29044336,2	K562	blood:
3	chr18:29033071..29035215-chr18:29036604..29039421,3	K562	blood:
4	chr18:29033071..29035215-chr18:29036604..29039421,3	K562	blood:

Extended variants
information (count: 423 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7240484	chr18:29029768-29029769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565176362	chr18:29029837-29029838	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs115880166	chr18:29029851-29029852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs183518792	chr18:29029873-29029874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs71361329	chr18:29029991-29029992	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141175038	chr18:29029998-29029999	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs146176310	chr18:29030064-29030065	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs77399099	chr18:29030077-29030078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs8099248	chr18:29030080-29030081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543607797	chr18:29030116-29030117	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs8099530	chr18:29030210-29030211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552245752	chr18:29030250-29030251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs570403273	chr18:29030255-29030256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs537855926	chr18:29030295-29030296	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs556157704	chr18:29030367-29030368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs189114226	chr18:29030375-29030376	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs2704043	chr18:29030381-29030382	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs142421403	chr18:29030389-29030390	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs554046585	chr18:29030426-29030427	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs56321993	chr18:29030447-29030448	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs72922886	chr18:29030450-29030451	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs199509726	chr18:29030454-29030455	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs566300327	chr18:29030458-29030459	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs577228666	chr18:29030475-29030476	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs9956575	chr18:29030497-29030498	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146006102	chr18:29030508-29030509	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs12604101	chr18:29030511-29030512	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs60846965	chr18:29030517-29030518	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542108389	chr18:29030533-29030534	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs560568826	chr18:29030545-29030546	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs527887502	chr18:29030598-29030599	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs193045678	chr18:29030618-29030619	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs570539714	chr18:29030693-29030694	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs559060516	chr18:29030699-29030700	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs111400713	chr18:29030720-29030721	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs182863247	chr18:29030743-29030744	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs549832897	chr18:29030746-29030747	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs568050083	chr18:29030761-29030762	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs535790200	chr18:29030765-29030766	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs9956859	chr18:29030796-29030797	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565789996	chr18:29030798-29030799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs139894498	chr18:29030847-29030848	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187464094	chr18:29030868-29030869	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557633440	chr18:29030870-29030871	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577290709	chr18:29030897-29030898	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191853201	chr18:29030912-29030913	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556178993	chr18:29030939-29030940	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs59351433	chr18:29030957-29030958	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61567349	chr18:29031047-29031048	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74403809	chr18:29031066-29031067	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Colorectal cancer	16272173	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
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
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29027200-29030400	Active TSS	Duodenum Mucosa	Duodenum
2	chr18:29027400-29030200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:29027400-29030800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr18:29027600-29029800	Active TSS	Fetal Thymus	thymus
5	chr18:29027600-29029800	Active TSS	HMEC	breast
6	chr18:29027600-29031800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:29028800-29030600	Active TSS	Esophagus	oesophagus
8	chr18:29029200-29030800	Transcr. at gene 5' and 3'	NHEK	skin
9	chr18:29029600-29029800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:29029800-29030000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:29029800-29030600	Flanking Active TSS	HMEC	breast
12	chr18:29030000-29030400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:29030200-29031000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:29030400-29030800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:29030400-29048000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr18:29030600-29030800	Active TSS	HMEC	breast
17	chr18:29030600-29034600	Weak transcription	Esophagus	oesophagus
18	chr18:29030800-29031000	Flanking Active TSS	HMEC	breast
19	chr18:29030800-29031400	Flanking Active TSS	NHEK	skin
20	chr18:29030800-29031600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:29030800-29032200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:29031000-29031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:29031000-29031600	Active TSS	HMEC	breast
24	chr18:29031400-29031600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:29031400-29032200	Transcr. at gene 5' and 3'	NHEK	skin
26	chr18:29031600-29031800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:29031600-29032000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr18:29031600-29032200	Flanking Active TSS	HMEC	breast
29	chr18:29031600-29034000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr18:29031800-29032200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:29031800-29032200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:29032000-29034400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr18:29032200-29032600	Genic enhancers	NHEK	skin
34	chr18:29032200-29033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:29032200-29033200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:29032200-29033400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29032200-29033800	Enhancers	HMEC	breast
38	chr18:29032600-29032800	Flanking Active TSS	NHEK	skin
39	chr18:29032800-29033200	Enhancers	NHEK	skin
40	chr18:29033200-29033400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:29033200-29033400	Flanking Active TSS	NHEK	skin
42	chr18:29033200-29034600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:29033400-29033600	Enhancers	NHEK	skin
44	chr18:29033400-29034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:29033400-29034400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:29033600-29033800	Flanking Active TSS	NHEK	skin
47	chr18:29033600-29035000	Enhancers	NH-A	brain
48	chr18:29033600-29035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:29033800-29034200	Enhancers	NHEK	skin
50	chr18:29033800-29034400	Active TSS	HMEC	breast

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