Variant report

Variant	nsv978736
Chromosome Location	chr18:45504781-45511894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45504611..45507573-chr18:45509284..45511408,2	K562	blood:
2	chr18:45457376..45459060-chr18:45504033..45506942,2	K562	blood:
3	chr18:45504611..45507573-chr18:45509284..45511408,2	K562	blood:

Variant related genes	Relation type
ENSG00000175387	chromatin interactions

Extended variants
information (count: 305 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:305 , 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	rs184314783	chr18:45504785-45504786	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527737153	chr18:45504792-45504793	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12605660	chr18:45504811-45504812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547905519	chr18:45504814-45504815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140753061	chr18:45504854-45504855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150101139	chr18:45504890-45504891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138652734	chr18:45504923-45504924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546576387	chr18:45504938-45504939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539232315	chr18:45504947-45504948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558839169	chr18:45504951-45504952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527945923	chr18:45504969-45504970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115261601	chr18:45505007-45505008	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188291451	chr18:45505009-45505010	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539666920	chr18:45505049-45505050	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542231479	chr18:45505072-45505073	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562815671	chr18:45505112-45505113	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564478270	chr18:45505148-45505149	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374326633	chr18:45505209-45505210	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565119506	chr18:45505230-45505231	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527473107	chr18:45505283-45505284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547945611	chr18:45505295-45505296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561345987	chr18:45505334-45505335	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530128109	chr18:45505484-45505485	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549868576	chr18:45505515-45505516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570333074	chr18:45505525-45505526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11875051	chr18:45505544-45505545	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76087412	chr18:45505546-45505547	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7504245	chr18:45505569-45505570	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs78504432	chr18:45505583-45505584	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568919969	chr18:45505587-45505588	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553474700	chr18:45505601-45505602	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566990298	chr18:45505617-45505618	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371339105	chr18:45505655-45505656	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112074004	chr18:45505680-45505681	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555837231	chr18:45505741-45505742	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548877489	chr18:45505790-45505791	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117097689	chr18:45505824-45505825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9956052	chr18:45505835-45505836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572298775	chr18:45505836-45505837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62087556	chr18:45505841-45505842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561382879	chr18:45505842-45505843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530093760	chr18:45505845-45505846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543896489	chr18:45505863-45505864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563574014	chr18:45505871-45505872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375781780	chr18:45505873-45505874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181117752	chr18:45505921-45505922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566006199	chr18:45505957-45505958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184072661	chr18:45505973-45505974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59530257	chr18:45505991-45505992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567356555	chr18:45505997-45505998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45501800-45510200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:45502200-45510000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:45502400-45505000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:45502400-45505800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:45502400-45505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45502400-45507600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:45502600-45505200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:45502600-45507200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:45502600-45508000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:45503000-45504800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:45503000-45505200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:45503000-45505200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:45503000-45506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:45503200-45505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:45503400-45505200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:45503400-45505600	Weak transcription	Placenta	Placenta
17	chr18:45503600-45505200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:45504800-45505000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:45505000-45505200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:45505000-45508600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:45505200-45505400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:45505200-45505600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:45505200-45505600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr18:45505200-45506400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:45505200-45506600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:45505200-45506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:45505200-45506600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr18:45505400-45505800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:45505600-45505800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:45505600-45506600	Enhancers	Placenta	Placenta
31	chr18:45505600-45507600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr18:45505800-45506000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr18:45505800-45506200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:45505800-45506400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:45505800-45507000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:45506000-45506200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:45506000-45507000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:45506200-45508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:45506200-45510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:45506400-45507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:45506400-45508200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:45506600-45507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:45506600-45507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:45506600-45509600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:45507000-45508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:45507000-45508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr18:45507200-45508200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr18:45507400-45507600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr18:45507600-45507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:45507600-45508200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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