Variant report

Variant	nsv967038
Chromosome Location	chr3:93847327-93850363
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	chr3:93846656..93848871-chr3:93849407..93851591,2	K562	blood:
2	chr3:93846656..93848871-chr3:93849407..93851591,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367557822	chr3:93847398-93847399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10576077	chr3:93847399-93847400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187438044	chr3:93847405-93847406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71872732	chr3:93847408-93847409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190709639	chr3:93847415-93847416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145235131	chr3:93847426-93847427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62265498	chr3:93847427-93847428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201502706	chr3:93847429-93847430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528491434	chr3:93847431-93847432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545445915	chr3:93847456-93847457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565424559	chr3:93847530-93847531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559402319	chr3:93847544-93847545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544802741	chr3:93847579-93847580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531252531	chr3:93847582-93847583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550867115	chr3:93847583-93847584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182961060	chr3:93847630-93847631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147350336	chr3:93847718-93847719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370724724	chr3:93847728-93847729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553694019	chr3:93847750-93847751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528917656	chr3:93847888-93847889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548661343	chr3:93847953-93847954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565485992	chr3:93848020-93848021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77721664	chr3:93848024-93848025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146511719	chr3:93848038-93848039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187260335	chr3:93848043-93848044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145111279	chr3:93848094-93848095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374867371	chr3:93848097-93848098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112991489	chr3:93848100-93848101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375495303	chr3:93848101-93848102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147520032	chr3:93848107-93848108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140052776	chr3:93848114-93848115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150061818	chr3:93848117-93848118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553481237	chr3:93848148-93848149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145383776	chr3:93848153-93848154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561828699	chr3:93848167-93848168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548681324	chr3:93848237-93848238	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545388110	chr3:93848258-93848259	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75444456	chr3:93848320-93848321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78131055	chr3:93848414-93848415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370520266	chr3:93848461-93848462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544899750	chr3:93848475-93848476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561468414	chr3:93848485-93848486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530231555	chr3:93848502-93848503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375853665	chr3:93848505-93848506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34038547	chr3:93848525-93848526	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75944241	chr3:93848586-93848587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79718610	chr3:93848588-93848589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565423965	chr3:93848636-93848637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs936072	chr3:93848648-93848649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551041057	chr3:93848663-93848664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93782800-93848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:93782800-93849400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:93783200-93851600	Weak transcription	HMEC	breast
4	chr3:93786800-93849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:93796000-93857800	Weak transcription	Fetal Brain Male	brain
6	chr3:93799000-93851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:93800200-93851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:93802400-93849600	Weak transcription	Stomach Mucosa	stomach
9	chr3:93802600-93851800	Weak transcription	Small Intestine	intestine
10	chr3:93808400-93849600	Weak transcription	Fetal Heart	heart
11	chr3:93812400-93852200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:93814600-93849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:93814600-93849400	Weak transcription	Right Ventricle	heart
14	chr3:93814600-93849600	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:93814600-93849800	Weak transcription	Colonic Mucosa	Colon
16	chr3:93814800-93857800	Weak transcription	Pancreas	Pancrea
17	chr3:93815600-93848400	Weak transcription	Placenta	Placenta
18	chr3:93817400-93849600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:93817600-93848000	Weak transcription	NH-A	brain
20	chr3:93817800-93848000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:93818000-93850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:93819400-93850400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:93823600-93849800	Weak transcription	HSMMtube	muscle
24	chr3:93823600-93857600	Weak transcription	Fetal Brain Female	brain
25	chr3:93825400-93848000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:93826400-93851800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:93826800-93851400	Weak transcription	Hela-S3	cervix
28	chr3:93828800-93856000	Weak transcription	HSMM	muscle
29	chr3:93831600-93847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:93831600-93849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:93831600-93849800	Weak transcription	Fetal Lung	lung
32	chr3:93831600-93851000	Weak transcription	Fetal Kidney	kidney
33	chr3:93831600-93851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:93831600-93856000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:93831600-93856200	Weak transcription	Ovary	ovary
36	chr3:93831800-93850600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:93831800-93851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:93833200-93851600	Weak transcription	NHEK	skin
39	chr3:93833200-93852000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:93834400-93848800	Weak transcription	NHDF-Ad	bronchial
41	chr3:93835200-93850600	Weak transcription	Brain Anterior Caudate	brain
42	chr3:93838400-93849600	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:93839400-93848400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:93839600-93849600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:93840000-93851600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:93840200-93849400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:93840400-93849400	Weak transcription	Left Ventricle	heart
48	chr3:93842000-93848000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:93842000-93848200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:93842200-93848400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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