Variant report

Variant	nsv960656
Chromosome Location	chr18:12101339-12102339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP002414.1.1-3	chr18:12101996-12102469	NONHSAT058342

Extended variants
information (count: 32 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573945217	chr18:12101367-12101368	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112630656	chr18:12101386-12101387	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188767893	chr18:12101579-12101580	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565135290	chr18:12101597-12101598	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532569557	chr18:12101626-12101627	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373411380	chr18:12101637-12101638	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547759769	chr18:12101682-12101683	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73947273	chr18:12101711-12101712	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536571142	chr18:12101761-12101762	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527339428	chr18:12101777-12101778	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553350614	chr18:12101802-12101803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9948384	chr18:12101808-12101809	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569926229	chr18:12101817-12101818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536746498	chr18:12101823-12101824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558647541	chr18:12101886-12101887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181585218	chr18:12101919-12101920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534576449	chr18:12101982-12101983	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552713141	chr18:12102006-12102007	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs574737786	chr18:12102038-12102039	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs542152394	chr18:12102048-12102049	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547537163	chr18:12102105-12102106	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs139573795	chr18:12102155-12102156	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs8095234	chr18:12102156-12102157	Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs12963390	chr18:12102188-12102189	Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565413532	chr18:12102225-12102226	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532516615	chr18:12102230-12102231	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547742963	chr18:12102258-12102259	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs114352671	chr18:12102265-12102266	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs530289746	chr18:12102286-12102287	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548517877	chr18:12102287-12102288	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs569893537	chr18:12102326-12102327	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550384118	chr18:12102330-12102331	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12101000-12101800	Weak transcription	Pancreas	Pancrea
2	chr18:12101000-12102800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr18:12101800-12102600	Active TSS	Pancreas	Pancrea

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