Variant report

Variant	nsv833630
Chromosome Location	chr18:38817119-39012222
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:17231407..17232225-chr18:38974006..38975026,9	Hela-S3	cervix:
2	chr18:38826849..38829663-chr18:38831825..38834175,2	K562	blood:
3	chr1:17231264..17232193-chr18:38974006..38975026,9	HCT-116	colon:
4	chr18:38959101..38961726-chr18:38962270..38965205,2	K562	blood:
5	chr18:38950254..38953080-chr18:38959492..38961423,2	MCF-7	breast:
6	chr18:35358242..35359064-chr18:38971330..38972195,2	MCF-7	breast:
7	chr18:38977273..38980226-chr18:38985784..38988363,2	K562	blood:
8	chr18:38826849..38829663-chr18:38831825..38834175,2	K562	blood:
9	chr18:38986163..38986728-chr18:39325152..39325952,2	MCF-7	breast:
10	chr18:38950254..38953080-chr18:38959492..38961423,2	MCF-7	breast:
11	chr18:38959101..38961726-chr18:38962270..38965205,2	K562	blood:
12	chr18:38977273..38980226-chr18:38985784..38988363,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272426	chromatin interactions

Extended variants
information (count: 3464 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3464 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571011636	chr18:38831470-38831471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1941578	chr18:38831474-38831475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547481972	chr18:38831529-38831530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140365764	chr18:38831551-38831552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540575186	chr18:38831581-38831582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188687412	chr18:38831629-38831630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554599390	chr18:38831677-38831678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569845702	chr18:38831685-38831686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536903181	chr18:38831699-38831700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565466322	chr18:38831776-38831777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558429511	chr18:38831782-38831783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576598580	chr18:38831783-38831784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192782701	chr18:38831796-38831797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553033276	chr18:38831814-38831815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532515885	chr18:38831827-38831828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574903727	chr18:38831829-38831830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183745816	chr18:38831876-38831877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563659638	chr18:38831898-38831899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145597225	chr18:38831915-38831916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142962653	chr18:38831970-38831971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562552016	chr18:38832035-38832036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9957632	chr18:38832066-38832067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188855148	chr18:38832072-38832073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564689360	chr18:38832087-38832088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147612610	chr18:38832104-38832105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532195909	chr18:38832106-38832107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17777949	chr18:38832155-38832156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559183454	chr18:38832175-38832176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529841325	chr18:38832192-38832193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181082017	chr18:38832193-38832194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545561647	chr18:38832223-38832224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536667170	chr18:38832234-38832235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115502963	chr18:38832269-38832270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570445788	chr18:38832281-38832282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566679481	chr18:38832305-38832306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553179703	chr18:38832346-38832347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62081961	chr18:38832354-38832355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185073374	chr18:38833821-38833822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545384350	chr18:38833861-38833862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568078647	chr18:38833862-38833863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16974262	chr18:38833881-38833882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190123607	chr18:38833894-38833895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11664656	chr18:38833938-38833939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182395046	chr18:38833966-38833967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529061791	chr18:38833970-38833971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187433829	chr18:38833988-38833989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569362678	chr18:38834001-38834002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573493765	chr18:38834013-38834014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539899350	chr18:38834014-38834015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558282959	chr18:38834067-38834068	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:38831400-38832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr18:38833800-38834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr18:38837200-38837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:38837400-38848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:38843800-38846400	Enhancers	Fetal Lung	lung
6	chr18:38843800-38847800	Enhancers	Fetal Stomach	stomach
7	chr18:38844600-38845000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:38844600-38845000	Enhancers	Gastric	stomach
9	chr18:38844600-38846600	Enhancers	Rectal Smooth Muscle	rectum
10	chr18:38844600-38847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:38844600-38847200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:38844800-38845200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr18:38844800-38845400	Enhancers	NHEK	skin
14	chr18:38845000-38846600	Weak transcription	Gastric	stomach
15	chr18:38845200-38845400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr18:38845200-38847200	Enhancers	Colon Smooth Muscle	Colon
17	chr18:38845400-38848400	Weak transcription	NHEK	skin
18	chr18:38846400-38846800	Weak transcription	Fetal Lung	lung
19	chr18:38846400-38847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:38846400-38847200	Enhancers	Fetal Intestine Small	intestine
21	chr18:38846600-38847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:38846800-38847200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr18:38846800-38847200	Enhancers	Fetal Lung	lung
24	chr18:38847000-38847200	Enhancers	Gastric	stomach
25	chr18:38847600-38848800	Enhancers	Stomach Mucosa	stomach
26	chr18:38848400-38849000	Enhancers	NHEK	skin
27	chr18:38848600-38849000	Enhancers	HMEC	breast
28	chr18:38848800-38849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:38851200-38851400	Weak transcription	Pancreas	Pancrea
30	chr18:38851600-38852000	ZNF genes & repeats	Pancreas	Pancrea
31	chr18:38877000-38878400	Enhancers	Hela-S3	cervix
32	chr18:38881000-38882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:38882600-38883200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:38883200-38887200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:38887200-38887800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:38887800-38890400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:38889400-38891400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr18:38890000-38890400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr18:38890200-38890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:38890200-38899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:38890400-38892400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:38890400-38892400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:38890600-38891400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr18:38890800-38891600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr18:38890800-38892800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr18:38890800-38893200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:38891000-38891200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:38891000-38891200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:38891000-38893000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:38891200-38892200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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