Variant report

Variant	nsv517425
Chromosome Location	chr18:44983381-44998024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44974280..44977864-chr18:44980316..44983533,3	K562	blood:

Extended variants
information (count: 367 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1036347	chr18:44983381-44983382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181839046	chr18:44983384-44983385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16953097	chr18:44983415-44983416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143270892	chr18:44983432-44983433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146202803	chr18:44983471-44983472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185801734	chr18:44983476-44983477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563473360	chr18:44983574-44983575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564307506	chr18:44983591-44983592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532133192	chr18:44983600-44983601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532469379	chr18:44983631-44983632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16953105	chr18:44983656-44983657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs751393	chr18:44983721-44983722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34052534	chr18:44983750-44983751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs118042127	chr18:44983765-44983766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548885504	chr18:44983770-44983771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376920541	chr18:44983780-44983781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536279433	chr18:44983783-44983784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549781648	chr18:44983833-44983834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569813004	chr18:44983834-44983835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538727664	chr18:44983835-44983836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139184764	chr18:44983844-44983845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7235819	chr18:44983922-44983923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs386802935	chr18:44984014-44984015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79352175	chr18:44984016-44984017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574625177	chr18:44984070-44984071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543460967	chr18:44984089-44984090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144004052	chr18:44984109-44984110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576787786	chr18:44984121-44984122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374492426	chr18:44984205-44984206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16953140	chr18:44984220-44984221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559567217	chr18:44984276-44984277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9950191	chr18:44984311-44984312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548479895	chr18:44984335-44984336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562432329	chr18:44984383-44984384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74264283	chr18:44984392-44984393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398059215	chr18:44984403-44984404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1434504	chr18:44984432-44984433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs144891667	chr18:44984445-44984446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190266673	chr18:44984490-44984491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181187203	chr18:44984513-44984514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370938176	chr18:44984543-44984544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35613061	chr18:44984550-44984551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367717291	chr18:44984560-44984561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59655898	chr18:44984561-44984562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4986229	chr18:44984613-44984614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185270082	chr18:44984614-44984615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34964375	chr18:44984652-44984653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75410002	chr18:44984682-44984683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376576273	chr18:44984704-44984705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554467527	chr18:44984706-44984707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44980400-44988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:44981200-44984400	Enhancers	Fetal Intestine Large	intestine
3	chr18:44981200-44984400	Enhancers	Fetal Intestine Small	intestine
4	chr18:44981600-44983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44982600-44983400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:44983200-44983800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr18:44983400-44984400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr18:44983600-44984200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:44983600-44984400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr18:44984800-44985200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:44984800-44985200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr18:44989800-44990200	Enhancers	Brain Germinal Matrix	brain
13	chr18:44991200-44991400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:44995400-44997000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr18:44995800-44996000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:44996800-44997200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:44996800-44998600	Enhancers	Placenta	Placenta
18	chr18:44997200-44998000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:44998000-44998200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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