Variant report

Variant	nsv822177
Chromosome Location	chr3:94205829-94219415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:94206515..94208478-chr3:94210074..94211921,2	K562	blood:
2	chr3:94213818..94215619-chr3:94218636..94220738,2	K562	blood:
3	chr3:94210684..94213221-chr3:94300303..94302225,2	MCF-7	breast:
4	chr3:94213818..94215619-chr3:94218636..94220738,2	K562	blood:
5	chr3:94206515..94208478-chr3:94210074..94211921,2	K562	blood:

Extended variants
information (count: 504 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73848065	chr3:94205836-94205837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141126390	chr3:94205848-94205849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560904046	chr3:94205890-94205891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34008335	chr3:94205894-94205895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202233869	chr3:94205900-94205901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201714676	chr3:94205914-94205915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529673758	chr3:94205940-94205941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546600039	chr3:94205950-94205951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs472026	chr3:94205951-94205952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532218144	chr3:94205972-94205973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551998641	chr3:94205998-94205999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs522161	chr3:94206032-94206033	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150747252	chr3:94206072-94206073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186873814	chr3:94206104-94206105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568382466	chr3:94206105-94206106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs495044	chr3:94206121-94206122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191339622	chr3:94206151-94206152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376205609	chr3:94206157-94206158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532056287	chr3:94206161-94206162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374463904	chr3:94206186-94206187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546519319	chr3:94206189-94206190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556838582	chr3:94206194-94206195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576696885	chr3:94206207-94206208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544353616	chr3:94206212-94206213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs499348	chr3:94206234-94206235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529672911	chr3:94206256-94206257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72917209	chr3:94206300-94206301	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs496227	chr3:94206314-94206315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76588720	chr3:94206318-94206319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532311812	chr3:94206341-94206342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115159336	chr3:94206401-94206402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547854596	chr3:94206414-94206415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568739320	chr3:94206415-94206416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183520126	chr3:94206421-94206422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531373779	chr3:94206447-94206448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116240736	chr3:94206453-94206454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs497977	chr3:94206454-94206455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533941439	chr3:94206467-94206468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530718594	chr3:94206478-94206479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530455059	chr3:94206512-94206513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554182751	chr3:94206547-94206548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs498902	chr3:94206569-94206570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149409269	chr3:94206575-94206576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556875740	chr3:94206596-94206597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576735342	chr3:94206627-94206628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs499845	chr3:94206679-94206680	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554377686	chr3:94206682-94206683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574427924	chr3:94206707-94206708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193207392	chr3:94206731-94206732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12630169	chr3:94206748-94206749	Enhancers Weak 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94201200-94207000	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:94205400-94206800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:94205800-94206200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:94205800-94206600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:94206000-94206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:94206000-94207000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:94206200-94212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:94207000-94207400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:94211600-94212200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:94211600-94212200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:94213200-94215200	Enhancers	Fetal Heart	heart
12	chr3:94217200-94217400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:94217400-94221600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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