Variant report

Variant	nsv962948
Chromosome Location	chr18:25241568-25248773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 274 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374309038	chr18:25241577-25241578	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74908510	chr18:25241628-25241629	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371488943	chr18:25241678-25241679	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576872701	chr18:25241694-25241695	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546317653	chr18:25241695-25241696	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117844770	chr18:25241714-25241715	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562560810	chr18:25241745-25241746	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77570464	chr18:25241857-25241858	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553659585	chr18:25241874-25241875	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569038718	chr18:25241915-25241916	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536484656	chr18:25241934-25241935	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561830797	chr18:25241961-25241962	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567017574	chr18:25241963-25241964	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs578204778	chr18:25241975-25241976	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115923095	chr18:25241987-25241988	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143309694	chr18:25241989-25241990	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146697048	chr18:25242000-25242001	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202206827	chr18:25242062-25242063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386387246	chr18:25242069-25242070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565442436	chr18:25242072-25242073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541817581	chr18:25242073-25242074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73944997	chr18:25242076-25242077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190954595	chr18:25242110-25242111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369313047	chr18:25242123-25242124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556476732	chr18:25242155-25242156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574672740	chr18:25242184-25242185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118175918	chr18:25242191-25242192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182482461	chr18:25242193-25242194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139149052	chr18:25242220-25242221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117984656	chr18:25242269-25242270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564695721	chr18:25242316-25242317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532146804	chr18:25242346-25242347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550878340	chr18:25242354-25242355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202040530	chr18:25242415-25242416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529910579	chr18:25242434-25242435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548444543	chr18:25242468-25242469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187126359	chr18:25242471-25242472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1420938	chr18:25242483-25242484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556548667	chr18:25242504-25242505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1420937	chr18:25242505-25242506	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191817554	chr18:25242515-25242516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556439885	chr18:25242521-25242522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574835731	chr18:25242522-25242523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372999581	chr18:25242561-25242562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182864157	chr18:25242562-25242563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149884039	chr18:25242614-25242615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1940990	chr18:25242630-25242631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377517696	chr18:25242633-25242634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539911865	chr18:25242660-25242661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188744344	chr18:25242668-25242669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25237400-25245400	Weak transcription	HSMM	muscle
2	chr18:25237800-25245400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr18:25240200-25249200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:25240400-25243600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25240600-25243200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:25240600-25246600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:25240800-25243200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:25240800-25243400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:25240800-25243400	Enhancers	Liver	Liver
10	chr18:25241000-25241800	Enhancers	HSMMtube	muscle
11	chr18:25241000-25242400	Enhancers	Brain Substantia Nigra	brain
12	chr18:25241000-25243400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:25241200-25241800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:25241200-25242600	Enhancers	Brain Hippocampus Middle	brain
15	chr18:25241200-25243200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:25241400-25241800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:25241400-25241800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr18:25241400-25241800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr18:25241400-25242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:25241400-25242200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr18:25241400-25242800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:25241400-25243200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:25241600-25241800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:25241600-25242000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr18:25241600-25242000	Active TSS	Brain Anterior Caudate	brain
26	chr18:25241600-25242600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr18:25241800-25242400	Enhancers	Brain Germinal Matrix	brain
28	chr18:25241800-25243400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:25241800-25243400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:25241800-25245000	Weak transcription	HSMMtube	muscle
31	chr18:25242000-25243000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:25242000-25243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:25242200-25242600	Enhancers	Brain Cingulate Gyrus	brain
34	chr18:25242600-25243400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:25242800-25243000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:25242800-25245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:25243000-25243400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr18:25243000-25246400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:25243200-25243600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:25243200-25244400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:25243200-25245000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr18:25243200-25245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:25243200-25245600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:25243400-25244200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr18:25243400-25245200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr18:25243400-25245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:25243400-25245400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr18:25243400-25245400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:25243400-25245400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr18:25243400-25246600	Weak transcription	Liver	Liver

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