Variant report

Variant	nsv524533
Chromosome Location	chr18:11670845-11683431
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	BATF	chr18:11671130-11671345	GM12878	blood:	n/a	chr18:11671266-11671277
2	BHLHE40	chr18:11671112-11671366	GM12878	blood:	n/a	chr18:11671210-11671219 chr18:11671209-11671218 chr18:11671209-11671218 chr18:11671207-11671220
3	BHLHE40	chr18:11671083-11671265	K562	blood:	n/a	chr18:11671210-11671219 chr18:11671209-11671218 chr18:11671209-11671218 chr18:11671207-11671220
4	BHLHE40	chr18:11676932-11677259	K562	blood:	n/a	n/a
5	CEBPB	chr18:11682111-11682191	HepG2	liver:	n/a	n/a
6	CTCF	chr18:11672213-11672253	K562	blood:	n/a	n/a
7	E2F6	chr18:11677031-11677235	K562	blood:	n/a	n/a
8	EP300	chr18:11676957-11677240	K562	blood:	n/a	n/a
9	FOS	chr18:11676832-11677306	MCF10A-Er-Src	breast:	n/a	chr18:11677117-11677124
10	FOS	chr18:11680347-11680639	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr18:11676947-11677302	MCF10A-Er-Src	breast:	n/a	chr18:11677117-11677124
12	FOS	chr18:11680347-11680651	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr18:11676789-11677329	MCF10A-Er-Src	breast:	n/a	chr18:11677117-11677124
14	FOS	chr18:11676760-11677478	MCF10A-Er-Src	breast:	n/a	chr18:11677117-11677124
15	FOSL1	chr18:11676870-11677218	K562	blood:	n/a	chr18:11677117-11677124
16	FOSL2	chr18:11676915-11677169	HepG2	liver:	n/a	chr18:11677117-11677124
17	JUN	chr18:11676821-11677169	K562	blood:	n/a	chr18:11677117-11677124
18	JUN	chr18:11676805-11677306	K562	blood:	n/a	chr18:11677117-11677124
19	JUND	chr18:11676909-11677270	K562	blood:	n/a	chr18:11677117-11677124
20	MAFF	chr18:11676986-11677208	K562	blood:	n/a	n/a
21	MAFK	chr18:11676939-11677139	K562	blood:	n/a	n/a
22	MAX	chr18:11676970-11677170	A549	lung:	n/a	n/a
23	MAX	chr18:11676903-11677282	Hela-S3	cervix:	n/a	n/a
24	MAX	chr18:11677004-11677206	NB4	blood:	n/a	n/a
25	MAX	chr18:11676903-11677228	K562	blood:	n/a	n/a
26	MAX	chr18:11676962-11677244	K562	blood:	n/a	n/a
27	MAX	chr18:11676953-11677217	K562	blood:	n/a	n/a
28	MAX	chr18:11676898-11677350	HCT-116	colon:	n/a	n/a
29	MAX	chr18:11676828-11677345	A549	lung:	n/a	n/a
30	MYC	chr18:11677073-11677108	MCF-7	breast:	n/a	n/a
31	MYC	chr18:11677124-11677128	K562	blood:	n/a	n/a
32	MYC	chr18:11677122-11677128	MCF-7	breast:	n/a	n/a
33	MYC	chr18:11676878-11677310	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr18:11677029-11677044	Hela-S3	cervix:	n/a	n/a
35	MYC	chr18:11676900-11677249	NB4	blood:	n/a	n/a
36	MYC	chr18:11676827-11677297	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr18:11677047-11677196	Hela-S3	cervix:	n/a	n/a
38	MYC	chr18:11677055-11677140	MCF-7	breast:	n/a	n/a
39	MYC	chr18:11676930-11677275	K562	blood:	n/a	n/a
40	POLR2A	chr18:11673685-11673697	Gliobla	brain:	n/a	n/a
41	POLR2A	chr18:11673668-11673674	Gliobla	brain:	n/a	n/a
42	RFX5	chr18:11675998-11676107	K562	blood:	n/a	n/a
43	SMC3	chr18:11676920-11677203	Hela-S3	cervix:	n/a	n/a
44	STAT3	chr18:11676863-11677078	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr18:11681069-11681234	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr18:11676884-11677286	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr18:11676963-11677194	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr18:11676888-11676949	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr18:11677348-11677469	MCF10A-Er-Src	breast:	n/a	n/a
50	TAL1	chr18:11676899-11677216	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11675703..11677385-chr18:11679349..11680961,2	K562	blood:
2	chr18:11675703..11677385-chr18:11679349..11680961,2	K562	blood:

Variant related genes	Relation type
ENSG00000260759	TF binding region

Extended variants
information (count: 578 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12961855	chr18:11670845-11670846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114905608	chr18:11670867-11670868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578111871	chr18:11670913-11670914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12962341	chr18:11670927-11670928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12962122	chr18:11670976-11670977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546251007	chr18:11670994-11670995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375279958	chr18:11671041-11671042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565224347	chr18:11671049-11671050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532259540	chr18:11671050-11671051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551393275	chr18:11671075-11671076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560137764	chr18:11671076-11671077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192409496	chr18:11671142-11671143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114938676	chr18:11671158-11671159	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28479287	chr18:11671164-11671165	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531892423	chr18:11671167-11671168	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538476311	chr18:11671208-11671209	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs28485115	chr18:11671214-11671215	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12966339	chr18:11671231-11671232	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12967201	chr18:11671239-11671240	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554475559	chr18:11671291-11671292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113878256	chr18:11671302-11671303	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572086212	chr18:11671303-11671304	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184750980	chr18:11671338-11671339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12966486	chr18:11671340-11671341	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576047184	chr18:11671347-11671348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543636692	chr18:11671392-11671393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140405352	chr18:11671406-11671407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541100664	chr18:11671431-11671432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9953163	chr18:11671492-11671493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374525225	chr18:11671495-11671496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540944618	chr18:11671496-11671497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566432846	chr18:11671497-11671498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377694234	chr18:11671520-11671521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58780734	chr18:11671536-11671537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549104078	chr18:11671551-11671552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561470390	chr18:11671557-11671558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79128720	chr18:11671591-11671592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550377942	chr18:11671597-11671598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571891654	chr18:11671598-11671599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533571216	chr18:11671599-11671600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539200799	chr18:11671648-11671649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56814182	chr18:11671658-11671659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59573562	chr18:11671659-11671660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28460484	chr18:11671706-11671707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540498384	chr18:11671748-11671749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74177573	chr18:11671757-11671758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2186961	chr18:11671759-11671760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554252936	chr18:11671773-11671774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35094433	chr18:11671798-11671799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569761321	chr18:11671822-11671823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11669600-11675000	Weak transcription	Right Atrium	heart
2	chr18:11670200-11677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11670600-11671000	Weak transcription	Esophagus	oesophagus
4	chr18:11671000-11671200	Enhancers	Esophagus	oesophagus
5	chr18:11671200-11677000	Weak transcription	Esophagus	oesophagus
6	chr18:11673600-11673800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:11676800-11677200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:11677000-11677200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:11677000-11677200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:11677000-11677200	Bivalent/Poised TSS	Liver	Liver
11	chr18:11677000-11677200	Enhancers	Esophagus	oesophagus
12	chr18:11677000-11677200	Enhancers	Spleen	Spleen
13	chr18:11677000-11677200	Flanking Bivalent TSS/Enh	A549	lung
14	chr18:11677200-11688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:11678000-11678200	Flanking Active TSS	Fetal Brain Male	brain
16	chr18:11678200-11678800	Enhancers	Fetal Brain Male	brain
17	chr18:11678200-11679200	Enhancers	Fetal Brain Female	brain

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