Variant report

Variant	nsv909512
Chromosome Location	chr18:28066601-28101661
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28099910..28101653-chr18:28108977..28111584,2	K562	blood:
2	chr18:28075165..28077234-chr18:28080274..28082674,2	K562	blood:
3	chr18:28075165..28077234-chr18:28080274..28082674,2	K562	blood:
4	chr18:28082947..28085380-chr18:28263743..28265731,2	K562	blood:
5	chr18:28087276..28089065-chr18:28089439..28091705,2	K562	blood:
6	chr18:28081832..28084530-chr18:28093008..28095760,2	K562	blood:
7	chr18:28087276..28089065-chr18:28089439..28091705,2	K562	blood:
8	chr18:28081832..28084530-chr18:28093008..28095760,2	K562	blood:

No data

Extended variants
information (count: 643 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1442998	chr18:28066601-28066602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185501327	chr18:28066640-28066641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548855856	chr18:28066663-28066664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563653871	chr18:28066717-28066718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140913974	chr18:28066729-28066730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200800278	chr18:28066863-28066864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113920063	chr18:28066865-28066866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187675396	chr18:28066871-28066872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547738767	chr18:28066880-28066881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12606961	chr18:28066882-28066883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539879912	chr18:28066891-28066892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192595876	chr18:28066916-28066917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370532516	chr18:28066917-28066918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570223797	chr18:28066924-28066925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537778829	chr18:28066932-28066933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114417943	chr18:28066934-28066935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184293562	chr18:28066994-28066995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73413765	chr18:28067010-28067011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552893805	chr18:28067018-28067019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188662978	chr18:28067026-28067027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72916757	chr18:28067111-28067112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181199878	chr18:28067131-28067132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575079425	chr18:28067174-28067175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184487827	chr18:28067177-28067178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374546604	chr18:28067180-28067181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150193607	chr18:28067183-28067184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116140372	chr18:28067230-28067231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541074637	chr18:28067238-28067239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559651161	chr18:28067249-28067250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529093106	chr18:28067250-28067251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533307949	chr18:28067265-28067266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138778470	chr18:28067306-28067307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9953956	chr18:28067381-28067382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143127588	chr18:28067419-28067420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549564301	chr18:28067424-28067425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567969436	chr18:28067442-28067443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535290172	chr18:28067453-28067454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147506420	chr18:28067515-28067516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9954144	chr18:28067589-28067590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532524167	chr18:28067590-28067591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138497074	chr18:28067591-28067592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59319006	chr18:28067599-28067600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9962285	chr18:28067619-28067620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371304664	chr18:28067630-28067631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376209528	chr18:28067699-28067700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570590680	chr18:28067703-28067704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9963126	chr18:28067761-28067762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572802052	chr18:28067779-28067780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540514104	chr18:28067780-28067781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188745157	chr18:28067794-28067795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28065000-28068800	Enhancers	HMEC	breast
2	chr18:28065000-28068800	Enhancers	NHEK	skin
3	chr18:28065200-28067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28065200-28068800	Enhancers	HSMM	muscle
5	chr18:28066200-28067000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:28066200-28068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:28066200-28068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:28066400-28066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:28066400-28067000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:28066400-28067200	Enhancers	HSMMtube	muscle
11	chr18:28066400-28068000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:28066400-28068000	Enhancers	NH-A	brain
13	chr18:28066400-28068600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:28066600-28066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:28066600-28067400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:28066800-28067800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:28066800-28073800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:28067200-28069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:28068600-28069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:28068600-28069800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:28068800-28069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:28068800-28069800	Weak transcription	NHEK	skin
23	chr18:28068800-28070000	Weak transcription	HMEC	breast
24	chr18:28068800-28070000	Weak transcription	HSMM	muscle
25	chr18:28069600-28070200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:28069600-28070200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:28069800-28070200	Enhancers	K562	blood
28	chr18:28069800-28070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:28069800-28070400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr18:28069800-28070400	Enhancers	NHEK	skin
31	chr18:28070000-28070200	Genic enhancers	HMEC	breast
32	chr18:28070200-28070400	Enhancers	HSMM	muscle
33	chr18:28070200-28071600	Weak transcription	HMEC	breast
34	chr18:28070200-28073800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:28072000-28072200	Enhancers	K562	blood
36	chr18:28073800-28074400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:28073800-28074800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:28075600-28076000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr18:28092800-28093000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:28092800-28093200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:28092800-28093800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr18:28093000-28093600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:28099000-28099400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr18:28099000-28099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr18:28099000-28099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:28099000-28102200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr18:28099000-28103400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:28099200-28099400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr18:28099200-28099400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr18:28099400-28100400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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