Variant report

Variant	nsv962490
Chromosome Location	chr18:12072797-12073533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12073455-12073505	T-47D	breast:	n/a
2	chr18:12073455-12073505	AG09309	skin:	n/a
3	chr18:12073455-12073505	HRPEpiC	eye:	n/a
4	chr18:12073455-12073505	ovcar-3	ovarian:	n/a
5	chr18:12073455-12073505	SK-N-SH	brain:	n/a
6	chr18:12073455-12073505	PFSK-1	brain:	n/a
7	chr18:12073455-12073505	U87	brain:	n/a
8	chr18:12073455-12073505	K562	blood:	n/a
9	chr18:12073455-12073505	HIPEpiC	eye:	n/a
10	chr18:12073455-12073505	Hela-S3	cervix:	n/a
11	chr18:12073455-12073505	SAEC	small airway:	n/a
12	chr18:12073455-12073505	GM12878	blood:	n/a
13	chr18:12073455-12073505	NHBE	bronchial:	n/a
14	chr18:12073455-12073505	HAEpiC	amniotic membrane:	n/a
15	chr18:12073455-12073505	HPAEpiC	pulmonary alveolar:	n/a
16	chr18:12073455-12073505	HEEpiC	esophagus:	n/a
17	chr18:12073455-12073505	AG04449	skin:	fetal
18	chr18:12073455-12073505	GM06990	blood:	n/a
19	chr18:12073455-12073505	HMEC	breast:	n/a
20	chr18:12073455-12073505	IMR90	lung:	fetal
21	chr18:12073455-12073505	SK-N-SH_RA	brain:	n/a
22	chr18:12073455-12073505	AG09319	gingival:	n/a
23	chr18:12073455-12073505	PrEC	prostate:	n/a
24	chr18:12073455-12073505	MCF10A-Er-Src	breast:	n/a
25	chr18:12073455-12073505	MCF-7	breast:	n/a
26	chr18:12073455-12073505	GM12891	blood:	n/a
27	chr18:12073455-12073505	LNCaP	prostate:	n/a
28	chr18:12073455-12073505	HepG2	liver:	n/a
29	chr18:12073455-12073505	SK-N-MC	brain:	n/a
30	chr18:12073455-12073505	BE2_C	brain:	n/a
31	chr18:12073455-12073505	NH-A	brain:	n/a
32	chr18:12073455-12073505	PANC-1	pancreas:	n/a
33	chr18:12073455-12073505	AG04450	lung:	fetal
34	chr18:12073455-12073505	HCT-116	colon:	n/a
35	chr18:12073455-12073505	HL-60	blood:	n/a
36	chr18:12073455-12073505	HEK293	kidney:	embryo
37	chr18:12073455-12073505	HRE	kidney:	n/a
38	chr18:12073455-12073505	NHDF-neo	bronchial:	n/a
39	chr18:12073455-12073505	Hepatocyte	liver:	n/a
40	chr18:12073455-12073505	GM12892	blood:	n/a
41	chr18:12073455-12073505	HCF	heart:	n/a
42	chr18:12073455-12073505	HCPEpiC	choroid plexus:	n/a
43	chr18:12073455-12073505	NT2-D1	testis:	n/a
44	chr18:12073455-12073505	A549	lung:	n/a
45	chr18:12073455-12073505	Caco-2	colon:	n/a
46	chr18:12073455-12073505	AoSMC	blood vessel:	n/a
47	chr18:12073455-12073505	BJ	skin:	n/a
48	chr18:12073455-12073505	CMK	blood:	n/a
49	chr18:12073455-12073505	SKMC	muscle:	n/a
50	chr18:12073455-12073505	GM19239	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD62-1	chr18:12073319-12073537	XLOC_012628

No data

Variant related genes	Relation type
ENSG00000267533	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527765766	chr18:12072973-12072974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12373463	chr18:12072991-12072992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34343663	chr18:12073057-12073058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371792324	chr18:12073091-12073092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544262276	chr18:12073130-12073131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559395130	chr18:12073198-12073199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533153411	chr18:12073271-12073272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558250801	chr18:12073292-12073293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551513222	chr18:12073339-12073340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369228451	chr18:12073366-12073367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs144814567	chr18:12073437-12073438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs188307247	chr18:12073441-12073442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs547668600	chr18:12073460-12073461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567812891	chr18:12073502-12073503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs10853216	chr18:12073520-12073521	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
2	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:12068600-12076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12072200-12076400	Weak transcription	HUVEC	blood vessel

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