Variant report

Variant	nsv909506
Chromosome Location	chr18:27858581-27959102
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:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:27922835..27924708-chr18:27937344..27940179,2	K562	blood:
2	chr18:27454290..27455070-chr18:27860612..27861475,2	MCF-7	breast:
3	chr18:27472686..27473345-chr18:27860467..27861458,2	MCF-7	breast:
4	chr18:27919683..27922668-chr18:27923023..27925040,3	K562	blood:
5	chr18:27890227..27893048-chr18:27894042..27896838,2	K562	blood:
6	chr18:27928932..27930487-chr18:27936951..27939777,2	K562	blood:
7	chr11:63617973..63618740-chr18:27921793..27922523,2	MCF-7	breast:
8	chr18:27919683..27922668-chr18:27923023..27925040,3	K562	blood:
9	chr18:27660806..27661537-chr18:27860581..27861275,2	MCF-7	breast:
10	chr18:27957210..27959216-chr18:27961958..27964128,2	K562	blood:
11	chr18:26541338..26542269-chr18:27860669..27861347,3	MCF-7	breast:
12	chr18:27919683..27921572-chr18:27922150..27924523,2	K562	blood:
13	chr18:27890227..27893048-chr18:27894042..27896838,2	K562	blood:
14	chr18:27928932..27930487-chr18:27936951..27939777,2	K562	blood:
15	chr18:27922835..27924708-chr18:27937344..27940179,2	K562	blood:
16	chr18:27919683..27921572-chr18:27922150..27924523,2	K562	blood:
17	chr18:27885976..27887937-chr18:27946285..27947930,2	K562	blood:
18	chr18:27885976..27887937-chr18:27946285..27947930,2	K562	blood:
19	chr18:27941520..27942154-chr18:28469573..28470147,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-11	chr18:27951210-27951464	expReg_chr18_1602_+

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

No data

Extended variants
information (count: 1099 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16947786	chr18:27858581-27858582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184316635	chr18:27858586-27858587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188517142	chr18:27858615-27858616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539652730	chr18:27858659-27858660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567381669	chr18:27858677-27858678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150424989	chr18:27858734-27858735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577851791	chr18:27858780-27858781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576685701	chr18:27858782-27858783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543420267	chr18:27858793-27858794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542158187	chr18:27858810-27858811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138347809	chr18:27858864-27858865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192904178	chr18:27858878-27858879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559187807	chr18:27858890-27858891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375825250	chr18:27858920-27858921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534803276	chr18:27858933-27858934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145129215	chr18:27858935-27858936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563573623	chr18:27858975-27858976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185159795	chr18:27859009-27859010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138967684	chr18:27859016-27859017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190442172	chr18:27859075-27859076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553253100	chr18:27859081-27859082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568160835	chr18:27859097-27859098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529252112	chr18:27859099-27859100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547827700	chr18:27859108-27859109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554636953	chr18:27859201-27859202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149417716	chr18:27859283-27859284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539994966	chr18:27859322-27859323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144849587	chr18:27859400-27859401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570348028	chr18:27859416-27859417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147977885	chr18:27859435-27859436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141645978	chr18:27859457-27859458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10163873	chr18:27859463-27859464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556990550	chr18:27859487-27859488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576357493	chr18:27859496-27859497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534331927	chr18:27859555-27859556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553000069	chr18:27859590-27859591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72917600	chr18:27859593-27859594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555820886	chr18:27859606-27859607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545168543	chr18:27859634-27859635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576166344	chr18:27859639-27859640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563375228	chr18:27859640-27859641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575179392	chr18:27859641-27859642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573842583	chr18:27859670-27859671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372774638	chr18:27859682-27859683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542463471	chr18:27859699-27859700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182518737	chr18:27859733-27859734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543527643	chr18:27859744-27859745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569193137	chr18:27859806-27859807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77866556	chr18:27859860-27859861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562085668	chr18:27859882-27859883	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27858200-27859400	Weak transcription	Fetal Lung	lung
2	chr18:27859400-27860000	Enhancers	Fetal Lung	lung
3	chr18:27860200-27861800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr18:27860800-27861400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr18:27860800-27861600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:27861200-27861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr18:27861200-27861400	Enhancers	Brain Substantia Nigra	brain
8	chr18:27863000-27868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:27863800-27868200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:27865800-27868200	Weak transcription	Fetal Heart	heart
11	chr18:27868200-27870000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:27868200-27870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:27868800-27870200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:27868800-27870600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr18:27869000-27869200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr18:27869000-27869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:27869000-27869800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:27869000-27870000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:27869200-27870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:27869800-27870000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr18:27881600-27882200	Enhancers	NHEK	skin
22	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:27881600-27882800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:27888400-27889000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr18:27888400-27889800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr18:27888600-27889000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr18:27905400-27905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:27905400-27906400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:27905600-27906000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr18:27905600-27906200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr18:27905600-27906800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr18:27907000-27907200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:27908800-27909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:27908800-27909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:27912800-27915000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:27915000-27915200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:27917800-27918600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr18:27917800-27918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:27918000-27918600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr18:27918000-27918600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr18:27918200-27918600	Enhancers	Brain Germinal Matrix	brain
42	chr18:27922600-27923400	Enhancers	Colon Smooth Muscle	Colon
43	chr18:27923400-27923600	Weak transcription	Colon Smooth Muscle	Colon
44	chr18:27923600-27924000	Enhancers	Colon Smooth Muscle	Colon
45	chr18:27924000-27924800	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:27924200-27924800	Enhancers	Rectal Smooth Muscle	rectum
47	chr18:27924800-27925200	Enhancers	Colon Smooth Muscle	Colon
48	chr18:27927400-27927800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:27932600-27932800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:27933600-27933800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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