Variant report

Variant	esv2754322
Chromosome Location	chr3:94913312-94967365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:94912857..94914770-chr3:94921596..94924370,2	MCF-7	breast:
2	chr21:43976463..43979311-chr3:94964978..94967829,2	MCF-7	breast:
3	chr3:94934431..94935951-chr3:94936179..94938719,2	K562	blood:
4	chr3:94912857..94914770-chr3:94921596..94924370,2	MCF-7	breast:
5	chr11:62608866..62609588-chr3:94930688..94931197,2	Hela-S3	cervix:
6	chr3:94934431..94935951-chr3:94936179..94938719,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 655 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200995193	chr3:94919026-94919027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138361910	chr3:94919106-94919107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113525188	chr3:94919148-94919149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544535052	chr3:94919153-94919154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191109702	chr3:94919209-94919210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553523060	chr3:94919243-94919244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114092495	chr3:94919278-94919279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7632132	chr3:94919314-94919315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182780854	chr3:94919328-94919329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546679624	chr3:94919339-94919340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188303297	chr3:94919346-94919347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532668511	chr3:94919393-94919394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551573056	chr3:94919400-94919401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559578220	chr3:94923619-94923620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6785501	chr3:94923628-94923629	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551334446	chr3:94923656-94923657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571337185	chr3:94923677-94923678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530894970	chr3:94923683-94923684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148052404	chr3:94923694-94923695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569749773	chr3:94923716-94923717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182802033	chr3:94923750-94923751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555614099	chr3:94923751-94923752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565949862	chr3:94923758-94923759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573237641	chr3:94923774-94923775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562992632	chr3:94923791-94923792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73846947	chr3:94923793-94923794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530824821	chr3:94923796-94923797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62269381	chr3:94923797-94923798	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536744001	chr3:94923798-94923799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570604029	chr3:94923824-94923825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556970873	chr3:94923871-94923872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573664696	chr3:94923933-94923934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543172533	chr3:94923959-94923960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187407005	chr3:94923974-94923975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190728820	chr3:94923982-94923983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534489697	chr3:94923983-94923984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548911776	chr3:94930703-94930704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562445934	chr3:94930733-94930734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188580738	chr3:94930750-94930751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560993001	chr3:94930781-94930782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199617171	chr3:94930790-94930791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79056154	chr3:94930794-94930795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367974683	chr3:94930795-94930796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74522379	chr3:94930796-94930797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs60147761	chr3:94930797-94930798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80072018	chr3:94930798-94930799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs397990563	chr3:94930806-94930807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551304335	chr3:94930819-94930820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542865967	chr3:94930821-94930822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181399096	chr3:94930832-94930833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21364760	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94919000-94919400	Enhancers	Liver	Liver
2	chr3:94923600-94924000	ZNF genes & repeats	Pancreas	Pancrea
3	chr3:94931000-94932200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:94931200-94932000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:94931600-94931800	Enhancers	Liver	Liver
6	chr3:94931800-94932200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:94931800-94932600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:94931800-94932600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:94931800-94936200	Weak transcription	Liver	Liver
10	chr3:94934400-94934600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:94934600-94935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:94936200-94936400	Enhancers	Liver	Liver
13	chr3:94936400-94936800	Weak transcription	Liver	Liver
14	chr3:94936400-94937000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:94936600-94937200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr3:94936800-94937600	Enhancers	Liver	Liver
17	chr3:94937400-94937800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr3:94945600-94946600	Enhancers	Liver	Liver
19	chr3:94961200-94970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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