Variant report

Variant	esv3422577
Chromosome Location	chr18:28862003-28881811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:28873035..28874705-chr18:28881375..28882997,2	MCF-7	breast:
2	chr18:28873035..28874705-chr18:28881375..28882997,2	MCF-7	breast:
3	chr18:28821250..28823567-chr18:28859683..28862005,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-7	chr18:28867478-28867603	NONHSAT058813
2	lnc-DSG1-7	chr18:28866469-28866554	NONHSAT058813

Extended variants
information (count: 779 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55778425	chr18:28862014-28862015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56088904	chr18:28862024-28862025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55987465	chr18:28862029-28862030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556368660	chr18:28862042-28862043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574918248	chr18:28862061-28862062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533022865	chr18:28862081-28862082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542268523	chr18:28862090-28862091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560482034	chr18:28862121-28862122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551331318	chr18:28862123-28862124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572786881	chr18:28862166-28862167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375865592	chr18:28862211-28862212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546134402	chr18:28862214-28862215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145305908	chr18:28862236-28862237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531801384	chr18:28862273-28862274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533691038	chr18:28862282-28862283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569822580	chr18:28862315-28862316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561424793	chr18:28862338-28862339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192949928	chr18:28862381-28862382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77897105	chr18:28862497-28862498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184552319	chr18:28862510-28862511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539350141	chr18:28862512-28862513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551382009	chr18:28862524-28862525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76842037	chr18:28862530-28862531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536957009	chr18:28862572-28862573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536826161	chr18:28862582-28862583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555513571	chr18:28862588-28862589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35287825	chr18:28862612-28862613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535911777	chr18:28862646-28862647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190266637	chr18:28862719-28862720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181556850	chr18:28862723-28862724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76620753	chr18:28862738-28862739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546516268	chr18:28862754-28862755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185095170	chr18:28862786-28862787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34853235	chr18:28862789-28862790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111302649	chr18:28862793-28862794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576603855	chr18:28862955-28862956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11663919	chr18:28862956-28862957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11663924	chr18:28862965-28862966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528962553	chr18:28862969-28862970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189376744	chr18:28863047-28863048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180992849	chr18:28863077-28863078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115327072	chr18:28863123-28863124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551684104	chr18:28863154-28863155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147634502	chr18:28863200-28863201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62088662	chr18:28863253-28863254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62088663	chr18:28863255-28863256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530801692	chr18:28863263-28863264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs139256328	chr18:28863327-28863328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567422493	chr18:28863349-28863350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149973607	chr18:28863372-28863373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28858800-28862400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr18:28859000-28867600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:28860000-28862800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:28860200-28862600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:28860400-28862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:28860600-28863200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:28860800-28862800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:28861200-28869400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:28861600-28862800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr18:28861800-28862800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr18:28862000-28862400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr18:28862400-28862600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:28862600-28863200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:28862600-28867600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:28863200-28864200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr18:28863200-28864800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:28864800-28865000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:28867600-28867800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr18:28867600-28867800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr18:28867600-28867800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr18:28867600-28867800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr18:28867600-28867800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr18:28867600-28867800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr18:28870600-28871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:28871600-28872000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:28872000-28872200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:28872200-28873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:28873200-28874000	Enhancers	Liver	Liver
29	chr18:28873600-28874600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:28873600-28874600	Enhancers	Stomach Mucosa	stomach
31	chr18:28873600-28875200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:28873800-28874600	Enhancers	HMEC	breast
33	chr18:28874000-28874400	Enhancers	Duodenum Mucosa	Duodenum
34	chr18:28874000-28874800	Enhancers	NHEK	skin
35	chr18:28874000-28875200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:28874200-28874600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:28874400-28874600	Enhancers	Gastric	stomach
38	chr18:28874600-28876800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:28874600-28877200	Weak transcription	HMEC	breast
40	chr18:28874600-28880400	Weak transcription	Stomach Mucosa	stomach
41	chr18:28874800-28876800	Weak transcription	NHEK	skin
42	chr18:28875200-28876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:28875200-28877000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:28876600-28877600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:28876800-28877600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:28876800-28877800	Enhancers	NHEK	skin
47	chr18:28877000-28877200	Enhancers	Placenta	Placenta
48	chr18:28877000-28877600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr18:28877200-28877600	Enhancers	HMEC	breast

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