Variant report

Variant	nsv963503
Chromosome Location	chr3:110882589-110888339
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	chr3:110883743..110885701-chr3:110894803..110897191,2	MCF-7	breast:

Extended variants
information (count: 227 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147289999	chr3:110882608-110882609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148353679	chr3:110882630-110882631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553329168	chr3:110882640-110882641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573499824	chr3:110882699-110882700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373506752	chr3:110882718-110882719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542520795	chr3:110882720-110882721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187958654	chr3:110882740-110882741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12629246	chr3:110882807-110882808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80280627	chr3:110882824-110882825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74391786	chr3:110882826-110882827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74530500	chr3:110882842-110882843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75956597	chr3:110882843-110882844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141551238	chr3:110882864-110882865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113874036	chr3:110882915-110882916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544780837	chr3:110882920-110882921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114476773	chr3:110882976-110882977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533037778	chr3:110883040-110883041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540274743	chr3:110883062-110883063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560082196	chr3:110883064-110883065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190107366	chr3:110883133-110883134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72937954	chr3:110883159-110883160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150904507	chr3:110883168-110883169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569024230	chr3:110883176-110883177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139432929	chr3:110883304-110883305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551141766	chr3:110883313-110883314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142750683	chr3:110883321-110883322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73854921	chr3:110883329-110883330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146070343	chr3:110883397-110883398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182066979	chr3:110883423-110883424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186700623	chr3:110883433-110883434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191401947	chr3:110883447-110883448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370571814	chr3:110883453-110883454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569002113	chr3:110883467-110883468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77050437	chr3:110883472-110883473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558378154	chr3:110883530-110883531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183812311	chr3:110883556-110883557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540330349	chr3:110883576-110883577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368001756	chr3:110883584-110883585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78783637	chr3:110883596-110883597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79204950	chr3:110883650-110883651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557050647	chr3:110883685-110883686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140060336	chr3:110883722-110883723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562832163	chr3:110883763-110883764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74579676	chr3:110883793-110883794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189233453	chr3:110883807-110883808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571119130	chr3:110883818-110883819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143708856	chr3:110883854-110883855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535999104	chr3:110883889-110883890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113488446	chr3:110883909-110883910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368854132	chr3:110883912-110883913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
4	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:110848200-110891800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
12	chr3:110853200-110897000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:110853200-110911000	Weak transcription	NH-A	brain
14	chr3:110857800-110892000	Weak transcription	Adipose Nuclei	Adipose
15	chr3:110864200-110891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:110870200-110891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:110871200-110896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:110871600-110889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:110871600-110892200	Weak transcription	NHLF	lung
22	chr3:110872000-110889800	Weak transcription	Pancreas	Pancrea
23	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:110872800-110893400	Weak transcription	Gastric	stomach
26	chr3:110872800-110896000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:110873400-110883600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:110873800-110889400	Weak transcription	Aorta	Aorta
29	chr3:110874200-110893400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:110874200-110893400	Weak transcription	Fetal Intestine Small	intestine
31	chr3:110874200-110894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
34	chr3:110874800-110884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:110874800-110889000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:110874800-110891600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:110875000-110889400	Weak transcription	Liver	Liver
39	chr3:110875000-110891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:110875200-110897600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:110875600-110885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:110877800-110891600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:110878800-110888400	Weak transcription	NHDF-Ad	bronchial
44	chr3:110880600-110886400	Weak transcription	Placenta	Placenta
45	chr3:110880600-110889600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:110880600-110892000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:110880600-110903600	Weak transcription	Fetal Kidney	kidney
48	chr3:110880800-110884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:110880800-110889000	Weak transcription	Dnd41	blood
50	chr3:110880800-110890800	Weak transcription	Duodenum Mucosa	Duodenum

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