Variant report

Variant	nsv960253
Chromosome Location	chr18:12230993-12234582
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	ARID3A	chr18:12233339-12233593	K562	blood:	n/a	n/a
2	BHLHE40	chr18:12233201-12233562	K562	blood:	n/a	n/a
3	CEBPB	chr18:12231874-12232083	A549	lung:	n/a	chr18:12231968-12231979
4	CEBPB	chr18:12233460-12233764	IMR90	lung:	n/a	n/a
5	CEBPB	chr18:12231879-12232069	IMR90	lung:	n/a	chr18:12231968-12231979
6	CEBPB	chr18:12231827-12232130	HepG2	liver:	n/a	chr18:12231968-12231979
7	CEBPB	chr18:12233527-12233668	K562	blood:	n/a	n/a
8	CEBPB	chr18:12231893-12232114	K562	blood:	n/a	chr18:12231968-12231979
9	CTCF	chr18:12232811-12232907	GM20000	blood:	n/a	n/a
10	CUX1	chr18:12232498-12232584	K562	blood:	n/a	n/a
11	EP300	chr18:12233435-12233700	K562	blood:	n/a	n/a
12	FOS	chr18:12233536-12233736	MCF10A-Er-Src	breast:	n/a	chr18:12233626-12233638 chr18:12233628-12233636 chr18:12233627-12233637 chr18:12233626-12233637 chr18:12233627-12233637
13	FOS	chr18:12233402-12233771	HUVEC	blood vessel:	n/a	chr18:12233626-12233638 chr18:12233628-12233636 chr18:12233627-12233637 chr18:12233626-12233637 chr18:12233627-12233637
14	FOS	chr18:12233457-12233738	MCF10A-Er-Src	breast:	n/a	chr18:12233626-12233638 chr18:12233628-12233636 chr18:12233627-12233637 chr18:12233626-12233637 chr18:12233627-12233637
15	GATA2	chr18:12233252-12233824	HUVEC	blood vessel:	n/a	chr18:12233535-12233552 chr18:12233530-12233546 chr18:12233533-12233543
16	JUND	chr18:12233446-12233791	K562	blood:	n/a	chr18:12233626-12233638 chr18:12233628-12233636 chr18:12233627-12233637 chr18:12233627-12233637
17	MAFF	chr18:12233523-12233685	K562	blood:	n/a	n/a
18	MAFK	chr18:12233538-12233621	IMR90	lung:	n/a	n/a
19	MAFK	chr18:12233534-12233663	K562	blood:	n/a	chr18:12233629-12233638
20	MAX	chr18:12233198-12233400	NB4	blood:	n/a	chr18:12233264-12233274 chr18:12233305-12233315
21	MAX	chr18:12233056-12233459	K562	blood:	n/a	chr18:12233264-12233274 chr18:12233305-12233315
22	MAZ	chr18:12233555-12233686	K562	blood:	n/a	n/a
23	MYC	chr18:12233203-12233627	K562	blood:	n/a	chr18:12233264-12233274 chr18:12233305-12233315
24	MYC	chr18:12233122-12233578	K562	blood:	n/a	chr18:12233264-12233274 chr18:12233305-12233315
25	POLR2A	chr18:12233140-12233227	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr18:12233479-12233489	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr18:12233451-12233712	HUVEC	blood vessel:	n/a	n/a
28	RCOR1	chr18:12233296-12233750	K562	blood:	n/a	n/a
29	TBL1XR1	chr18:12233505-12233633	K562	blood:	n/a	n/a
30	TEAD4	chr18:12233391-12233662	K562	blood:	n/a	n/a
31	ZBTB7A	chr18:12233552-12233735	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12231902..12234206-chr18:12235685..12237425,2	MCF-7	breast:
2	chr18:12233749..12236346-chr18:12254403..12256690,2	K562	blood:
3	chr18:12233199..12235151-chr18:12307042..12310016,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFG3L2-1	chr18:12231531-12231572	ENSG00000267247.1
2	lnc-AFG3L2-1	chr18:12234300-12234483	XLOC_012774

Variant related genes	Relation type
ENSG00000267247	TF binding region
ENSG00000176014	chromatin interactions
ENSG00000176194	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560633447	chr18:12231019-12231020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527830900	chr18:12231044-12231045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7507102	chr18:12231060-12231061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549337439	chr18:12231061-12231062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373673629	chr18:12231067-12231068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561020502	chr18:12231071-12231072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187588746	chr18:12231072-12231073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549363096	chr18:12231081-12231082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538255238	chr18:12231082-12231083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78271013	chr18:12231094-12231095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113922986	chr18:12231095-12231096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536427126	chr18:12231097-12231098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554502450	chr18:12231153-12231154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574172430	chr18:12231172-12231173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538068135	chr18:12231183-12231184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538391621	chr18:12231208-12231209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9953700	chr18:12231210-12231211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150537154	chr18:12231229-12231230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9953709	chr18:12231250-12231251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369916681	chr18:12231256-12231257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372362435	chr18:12231257-12231258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373412304	chr18:12231260-12231261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200853841	chr18:12231261-12231262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371351555	chr18:12231290-12231291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113060227	chr18:12231297-12231298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572683538	chr18:12231300-12231301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376051635	chr18:12231301-12231302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71172062	chr18:12231329-12231330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561190545	chr18:12231361-12231362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531790541	chr18:12231393-12231394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115150716	chr18:12231394-12231395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564653871	chr18:12231409-12231410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531954805	chr18:12231419-12231420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547106519	chr18:12231421-12231422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190988148	chr18:12231449-12231450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8099106	chr18:12231481-12231482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73947507	chr18:12231501-12231502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370381596	chr18:12231503-12231504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28628478	chr18:12231512-12231513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34551478	chr18:12231514-12231515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373551203	chr18:12231522-12231523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556662945	chr18:12231524-12231525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571794384	chr18:12231531-12231532	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs8099393	chr18:12231546-12231547	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554314258	chr18:12231550-12231551	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs114161049	chr18:12231561-12231562	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572694339	chr18:12231562-12231563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542904311	chr18:12231582-12231583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554850470	chr18:12231586-12231587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576195425	chr18:12231595-12231596	Enhancers 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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12226400-12231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:12228600-12233000	Weak transcription	K562	blood
3	chr18:12230600-12231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12231000-12231800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:12231200-12231800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12231800-12234400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12232200-12232400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr18:12233000-12234800	Enhancers	K562	blood
9	chr18:12233200-12233400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:12233200-12234400	Enhancers	HUVEC	blood vessel
11	chr18:12233200-12234400	Enhancers	NH-A	brain
12	chr18:12233200-12237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:12233400-12234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:12234400-12235200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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