Variant report

Variant	nsv576626
Chromosome Location	chr18:27853483-27921936
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:27885976..27887937-chr18:27946285..27947930,2	K562	blood:
2	chr18:27919683..27921572-chr18:27922150..27924523,2	K562	blood:
3	chr18:27890227..27893048-chr18:27894042..27896838,2	K562	blood:
4	chr11:63617973..63618740-chr18:27921793..27922523,2	MCF-7	breast:
5	chr18:27454290..27455070-chr18:27860612..27861475,2	MCF-7	breast:
6	chr18:27472686..27473345-chr18:27860467..27861458,2	MCF-7	breast:
7	chr18:27890227..27893048-chr18:27894042..27896838,2	K562	blood:
8	chr18:27660806..27661537-chr18:27860581..27861275,2	MCF-7	breast:
9	chr18:26541338..26542269-chr18:27860669..27861347,3	MCF-7	breast:
10	chr18:27919683..27922668-chr18:27923023..27925040,3	K562	blood:
11	chr18:27735365..27737752-chr18:27851643..27854049,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-302f	chr18:27878902-27878918	MIMAT0005932

No data

Extended variants
information (count: 841 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567940730	chr18:27854009-27854010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192088196	chr18:27854029-27854030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552997349	chr18:27854046-27854047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7351010	chr18:27854055-27854056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200126442	chr18:27854079-27854080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544686376	chr18:27854080-27854081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565687281	chr18:27854091-27854092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556981836	chr18:27854109-27854110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2949524	chr18:27854138-27854139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542783110	chr18:27854146-27854147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560503930	chr18:27854152-27854153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7351011	chr18:27854213-27854214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79369577	chr18:27854221-27854222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528361032	chr18:27854234-27854235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540182042	chr18:27854242-27854243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145510209	chr18:27854250-27854251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533319362	chr18:27854288-27854289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111745946	chr18:27854303-27854304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115857808	chr18:27854345-27854346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148439087	chr18:27854349-27854350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142566627	chr18:27854377-27854378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549586428	chr18:27854396-27854397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565996253	chr18:27857408-27857409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553265270	chr18:27857459-27857460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533912672	chr18:27857509-27857510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558939335	chr18:27857521-27857522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577251592	chr18:27857544-27857545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538378691	chr18:27857547-27857548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193219977	chr18:27857585-27857586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183809203	chr18:27857597-27857598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145098805	chr18:27857643-27857644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370063535	chr18:27857644-27857645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147598131	chr18:27857649-27857650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578030411	chr18:27857651-27857652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140487118	chr18:27857660-27857661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202011176	chr18:27857661-27857662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2960052	chr18:27857669-27857670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545463824	chr18:27857684-27857685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370797172	chr18:27857706-27857707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186898025	chr18:27857724-27857725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531301620	chr18:27857743-27857744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144463965	chr18:27857753-27857754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576443794	chr18:27857777-27857778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2949535	chr18:27857785-27857786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs191411526	chr18:27857831-27857832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16947783	chr18:27857834-27857835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565814588	chr18:27857856-27857857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559009452	chr18:27857864-27857865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371922535	chr18:27857879-27857880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539755470	chr18:27857921-27857922	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27854000-27854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:27857400-27858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:27857600-27858200	Enhancers	Fetal Lung	lung
4	chr18:27858200-27859400	Weak transcription	Fetal Lung	lung
5	chr18:27859400-27860000	Enhancers	Fetal Lung	lung
6	chr18:27860200-27861800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:27860800-27861400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr18:27860800-27861600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:27861200-27861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:27861200-27861400	Enhancers	Brain Substantia Nigra	brain
11	chr18:27863000-27868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:27863800-27868200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:27865800-27868200	Weak transcription	Fetal Heart	heart
14	chr18:27868200-27870000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:27868200-27870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:27868800-27870200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:27868800-27870600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr18:27869000-27869200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:27869000-27869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:27869000-27869800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr18:27869000-27870000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr18:27869200-27870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:27869800-27870000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr18:27881600-27882200	Enhancers	NHEK	skin
25	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:27888400-27889000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:27888400-27889800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:27888600-27889000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr18:27905400-27905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr18:27905400-27906400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:27905600-27906000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr18:27905600-27906200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr18:27905600-27906800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr18:27907000-27907200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:27908800-27909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:27908800-27909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:27912800-27915000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:27915000-27915200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:27917800-27918600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr18:27917800-27918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr18:27918000-27918600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr18:27918000-27918600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr18:27918200-27918600	Enhancers	Brain Germinal Matrix	brain

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