Variant report

Variant	nsv1055995
Chromosome Location	chr18:8222469-8271135
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	chr18:8238525-8238912	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:8264882-8265187	HepG2	liver:	n/a	n/a
3	ATF1	chr18:8230285-8230364	K562	blood:	n/a	n/a
4	BHLHE40	chr18:8260967-8261083	GM12878	blood:	n/a	n/a
5	BHLHE40	chr18:8245188-8245218	K562	blood:	n/a	chr18:8245206-8245215
6	BHLHE40	chr18:8238579-8238896	HepG2	liver:	n/a	n/a
7	CEBPB	chr18:8222869-8223097	A549	lung:	n/a	n/a
8	CEBPB	chr18:8238518-8238919	HepG2	liver:	n/a	n/a
9	CEBPB	chr18:8238529-8238929	HepG2	liver:	n/a	n/a
10	CEBPB	chr18:8229771-8230192	MCF-7	breast:	n/a	n/a
11	CEBPB	chr18:8258863-8259077	HepG2	liver:	n/a	chr18:8259003-8259014
12	CEBPB	chr18:8238610-8238815	HepG2	liver:	n/a	n/a
13	CEBPB	chr18:8222990-8223056	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr18:8264904-8265156	HepG2	liver:	n/a	n/a
15	CEBPB	chr18:8238713-8238798	K562	blood:	n/a	n/a
16	CEBPB	chr18:8258874-8259074	K562	blood:	n/a	chr18:8259003-8259014
17	CHD2	chr18:8261008-8261203	GM12878	blood:	n/a	n/a
18	CHD2	chr18:8238568-8238919	HepG2	liver:	n/a	n/a
19	CTCF	chr18:8225500-8225650	HepG2	liver:	n/a	n/a
20	CTCF	chr18:8225480-8225630	K562	blood:	n/a	n/a
21	CTCF	chr18:8258120-8258270	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr18:8260420-8260570	HMEC	breast:	n/a	n/a
23	CTCF	chr18:8260360-8260510	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr18:8225440-8225730	HCT-116	colon:	n/a	n/a
25	CTCF	chr18:8256780-8256930	GM12864	blood:	n/a	n/a
26	CTCF	chr18:8225480-8225630	HEK293	kidney:	n/a	n/a
27	CTCF	chr18:8245116-8245173	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr18:8225500-8225650	GM12874	blood:	n/a	n/a
29	CTCF	chr18:8225400-8225550	RPTEC	kidney:	n/a	n/a
30	CTCF	chr18:8225503-8225603	K562	blood:	n/a	n/a
31	CTCF	chr18:8258220-8258370	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr18:8258220-8258370	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr18:8258160-8258310	BE2_C	brain:	n/a	n/a
34	CUX1	chr18:8260987-8261091	GM12878	blood:	n/a	n/a
35	E2F4	chr18:8238637-8238895	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr18:8229575-8230155	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr18:8242649-8243114	MCF10A-Er-Src	breast:	n/a	n/a
38	ELF1	chr18:8238596-8238820	HepG2	liver:	n/a	n/a
39	EP300	chr18:8264939-8265406	SK-N-SH_RA	brain:	n/a	chr18:8265096-8265106
40	EP300	chr18:8261518-8262293	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr18:8254646-8254980	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr18:8253902-8254359	SK-N-SH_RA	brain:	n/a	chr18:8253911-8253925
43	EP300	chr18:8260933-8261140	GM12878	blood:	n/a	chr18:8261114-8261128
44	EP300	chr18:8238454-8238974	HepG2	liver:	n/a	n/a
45	EP300	chr18:8260891-8261224	GM12878	blood:	n/a	chr18:8261114-8261128 chr18:8261201-8261211
46	EP300	chr18:8230056-8230082	K562	blood:	n/a	n/a
47	EP300	chr18:8264583-8266528	SK-N-SH	brain:	n/a	chr18:8266367-8266381 chr18:8266363-8266377 chr18:8265096-8265106
48	EP300	chr18:8260983-8261077	GM12878	blood:	n/a	n/a
49	EP300	chr18:8247383-8247384	K562	blood:	n/a	n/a
50	EP300	chr18:8253484-8255358	SK-N-SH	brain:	n/a	chr18:8253911-8253925

No.	Distal block	Cell Line	Cell type
1	chr18:8239710..8241643-chr18:8248526..8251339,2	K562	blood:
2	chr18:8231375..8233156-chr18:8237020..8239569,2	K562	blood:
3	chr18:8241151..8242121-chrX:10087169..10087734,2	MCF-7	breast:
4	chr18:8239710..8241643-chr18:8248526..8251339,2	K562	blood:
5	chr18:8231375..8233156-chr18:8237020..8239569,2	K562	blood:

Variant related genes	Relation type
PTPRM	TF binding region
ENSG00000212067	TF binding region

Extended variants
information (count: 2031 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2031 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12607050	chr18:8222469-8222470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529116458	chr18:8222470-8222471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12605453	chr18:8222489-8222490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs372987222	chr18:8222500-8222501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77943472	chr18:8222528-8222529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146612270	chr18:8222529-8222530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551764445	chr18:8222539-8222540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377732849	chr18:8222540-8222541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185240927	chr18:8222579-8222580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527811203	chr18:8222580-8222581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10468776	chr18:8222591-8222592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149201521	chr18:8222633-8222634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143331630	chr18:8222662-8222663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368442161	chr18:8222759-8222760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571949816	chr18:8222768-8222769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539022708	chr18:8222818-8222819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112384636	chr18:8222835-8222836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533268667	chr18:8222844-8222845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572574374	chr18:8222883-8222884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146315856	chr18:8222910-8222911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539954682	chr18:8222911-8222912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59066247	chr18:8222916-8222917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4563098	chr18:8222977-8222978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544572733	chr18:8223029-8223030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386800938	chr18:8223038-8223039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1860964	chr18:8223040-8223041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138602844	chr18:8223042-8223043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188426207	chr18:8223043-8223044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546302297	chr18:8223048-8223049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142759331	chr18:8223051-8223052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557336650	chr18:8223062-8223063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560494698	chr18:8223078-8223079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527723428	chr18:8223083-8223084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35715846	chr18:8223108-8223109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191785237	chr18:8223115-8223116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531802770	chr18:8223161-8223162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1860963	chr18:8223171-8223172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571800006	chr18:8223177-8223178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183572690	chr18:8223180-8223181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553288638	chr18:8223184-8223185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550813057	chr18:8223208-8223209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550926821	chr18:8223217-8223218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566113073	chr18:8223247-8223248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8092312	chr18:8223356-8223357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374659458	chr18:8223366-8223367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114810361	chr18:8223393-8223394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115597959	chr18:8223419-8223420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542431296	chr18:8223478-8223479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12458159	chr18:8223531-8223532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556347788	chr18:8223558-8223559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:8205600-8225600	Weak transcription	Lung	lung
7	chr18:8208600-8224200	Weak transcription	A549	lung
8	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:8213000-8229600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:8213400-8225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8213400-8233000	Weak transcription	Fetal Thymus	thymus
12	chr18:8213800-8225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:8213800-8226800	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
15	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:8218200-8224600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:8219000-8224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr18:8219000-8225400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:8219200-8225400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:8220000-8225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:8220000-8225600	Weak transcription	Pancreas	Pancrea
22	chr18:8220200-8231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:8220600-8224400	Weak transcription	Osteobl	bone
24	chr18:8220800-8225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:8220800-8225400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:8222000-8223400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:8223400-8227400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:8224000-8224200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:8225200-8226400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr18:8225400-8225600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:8225400-8225600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr18:8225400-8225800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:8225400-8225800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:8225400-8225800	ZNF genes & repeats	Aorta	Aorta
35	chr18:8225400-8226200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:8225600-8225800	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr18:8225800-8226400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:8225800-8226600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:8225800-8234400	Weak transcription	Psoas Muscle	Psoas
40	chr18:8225800-8244000	Weak transcription	Aorta	Aorta
41	chr18:8226400-8227000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:8226600-8227000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:8226600-8227000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:8226800-8227400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr18:8227000-8227200	ZNF genes & repeats	A549	lung
46	chr18:8227000-8232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:8227000-8233200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:8227200-8255000	Weak transcription	A549	lung
50	chr18:8227400-8230000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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