Variant report

Variant	nsv960251
Chromosome Location	chr18:12080951-12082154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12081428-12081795	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD62-2	chr18:12081796-12081838	ENSG00000267722.1
2	lnc-ANKRD62-2	chr18:12081539-12081657	ENSG00000267722.1

Variant related genes	Relation type
ENSG00000267722	TF binding region
ENSG00000256616	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556360579	chr18:12080961-12080962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367551004	chr18:12080966-12080967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578075126	chr18:12080982-12080983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185735433	chr18:12081021-12081022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147044741	chr18:12081088-12081089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560507932	chr18:12081104-12081105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547583466	chr18:12081117-12081118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190496735	chr18:12081152-12081153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543302463	chr18:12081158-12081159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373155113	chr18:12081174-12081175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565910415	chr18:12081192-12081193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561605845	chr18:12081209-12081210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539728019	chr18:12081216-12081217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4491601	chr18:12081220-12081221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373267052	chr18:12081229-12081230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550376009	chr18:12081241-12081242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373594948	chr18:12081244-12081245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67184703	chr18:12081245-12081246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143980024	chr18:12081248-12081249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201043149	chr18:12081249-12081250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376251913	chr18:12081258-12081259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55858330	chr18:12081266-12081267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141108189	chr18:12081270-12081271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183108984	chr18:12081291-12081292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532206699	chr18:12081292-12081293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569938092	chr18:12081315-12081316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4419121	chr18:12081316-12081317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142185571	chr18:12081326-12081327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529685480	chr18:12081337-12081338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188487418	chr18:12081343-12081344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193238659	chr18:12081391-12081392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200382115	chr18:12081392-12081393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201195227	chr18:12081401-12081402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369272266	chr18:12081413-12081414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373248212	chr18:12081472-12081473	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs112660153	chr18:12081483-12081484	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs558686328	chr18:12081544-12081545	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs570574903	chr18:12081607-12081608	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs539075314	chr18:12081615-12081616	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs554316008	chr18:12081658-12081659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572461954	chr18:12081704-12081705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543088569	chr18:12081737-12081738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555749043	chr18:12081738-12081739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375869485	chr18:12081739-12081740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555277546	chr18:12081740-12081741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573769161	chr18:12081765-12081766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543773839	chr18:12081802-12081803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565431842	chr18:12081814-12081815	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs532608901	chr18:12081827-12081828	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541113398	chr18:12081890-12081891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12076800-12085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12077000-12095000	Weak transcription	Right Atrium	heart

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