Variant report

Variant	nsv962957
Chromosome Location	chr18:8430747-8441037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8425527..8427205-chr18:8429443..8431122,2	MCF-7	breast:

Extended variants
information (count: 387 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549956622	chr18:8430829-8430830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546700026	chr18:8430878-8430879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116273142	chr18:8430892-8430893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535603062	chr18:8430934-8430935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551150769	chr18:8430947-8430948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs654958	chr18:8430955-8430956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs185364389	chr18:8430965-8430966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189786187	chr18:8431008-8431009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573598547	chr18:8431039-8431040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs655371	chr18:8431040-8431041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139458247	chr18:8431045-8431046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118025155	chr18:8431081-8431082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541609743	chr18:8431088-8431089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs655793	chr18:8431109-8431110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545907102	chr18:8431126-8431127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs656237	chr18:8431201-8431202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572814251	chr18:8431253-8431254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545596928	chr18:8431285-8431286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs656666	chr18:8431290-8431291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182077768	chr18:8431299-8431300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189078085	chr18:8431320-8431321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116308777	chr18:8431335-8431336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372103855	chr18:8431397-8431398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561987498	chr18:8431402-8431403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141608356	chr18:8431424-8431425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193150682	chr18:8431425-8431426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61667692	chr18:8431487-8431488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150540543	chr18:8431493-8431494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376766885	chr18:8431494-8431495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139501707	chr18:8431502-8431503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149687448	chr18:8431573-8431574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534256067	chr18:8431575-8431576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62086611	chr18:8431592-8431593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374014891	chr18:8431622-8431623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184021905	chr18:8431624-8431625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62086612	chr18:8431625-8431626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557346567	chr18:8431626-8431627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575019343	chr18:8431637-8431638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545559994	chr18:8431678-8431679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144172810	chr18:8431690-8431691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532917925	chr18:8431706-8431707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570116364	chr18:8431737-8431738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546295378	chr18:8431765-8431766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562023987	chr18:8431776-8431777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62086613	chr18:8431784-8431785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201238872	chr18:8431789-8431790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71747707	chr18:8431859-8431860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372265210	chr18:8431875-8431876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568664583	chr18:8431892-8431893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544613775	chr18:8431917-8431918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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 myeloid leukemia	17377590	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8423600-8433600	Weak transcription	Right Atrium	heart
2	chr18:8426400-8433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8429000-8432800	Weak transcription	Right Ventricle	heart
4	chr18:8429400-8435000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:8432800-8433800	Enhancers	Right Ventricle	heart
6	chr18:8433200-8433800	Enhancers	Adipose Nuclei	Adipose
7	chr18:8433600-8433800	Enhancers	Right Atrium	heart
8	chr18:8435000-8435200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:8435000-8435200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:8435200-8435600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:8435600-8435800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8435600-8435800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:8435600-8435800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr18:8437400-8438400	Enhancers	Spleen	Spleen
15	chr18:8439000-8439200	ZNF genes & repeats	Aorta	Aorta
16	chr18:8439200-8439800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:8439200-8439800	Enhancers	Placenta	Placenta
18	chr18:8439800-8447400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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