Variant report

Variant	esv3366874
Chromosome Location	chr3:94647912-94650035
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	chr3:94646635..94650609-chr3:94654711..94656802,3	K562	blood:
2	chr3:94649439..94652058-chr3:94652973..94655338,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242911	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367802032	chr3:94647951-94647952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117337960	chr3:94647961-94647962	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147607239	chr3:94647969-94647970	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78798768	chr3:94647988-94647989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142288592	chr3:94648044-94648045	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184436244	chr3:94648108-94648109	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77839530	chr3:94648123-94648124	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576885296	chr3:94648165-94648166	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544169218	chr3:94648222-94648223	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188545630	chr3:94648272-94648273	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181310488	chr3:94648296-94648297	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530455699	chr3:94648301-94648302	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576061257	chr3:94648305-94648306	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146071145	chr3:94648308-94648309	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374471925	chr3:94648356-94648357	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77064515	chr3:94648421-94648422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138663549	chr3:94648507-94648508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114958286	chr3:94648527-94648528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376544452	chr3:94648538-94648539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369520111	chr3:94648542-94648543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373438608	chr3:94648545-94648546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375939328	chr3:94648550-94648551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73179464	chr3:94648553-94648554	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564032265	chr3:94648577-94648578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549917951	chr3:94648598-94648599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563753111	chr3:94648624-94648625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139702433	chr3:94648630-94648631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59050461	chr3:94648631-94648632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs397703076	chr3:94648635-94648636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201483729	chr3:94648636-94648637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200054001	chr3:94648637-94648638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200916306	chr3:94648638-94648639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201588464	chr3:94648639-94648640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149243532	chr3:94648653-94648654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370313594	chr3:94648663-94648664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566730220	chr3:94648664-94648665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372556911	chr3:94648671-94648672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375625934	chr3:94648679-94648680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371568735	chr3:94648680-94648681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376304021	chr3:94648682-94648683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374517625	chr3:94648684-94648685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369601308	chr3:94648690-94648691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184364188	chr3:94648694-94648695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374256274	chr3:94648699-94648700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189067606	chr3:94648700-94648701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181888317	chr3:94648724-94648725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187336427	chr3:94648728-94648729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368640063	chr3:94648729-94648730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192063081	chr3:94648733-94648734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377548742	chr3:94648734-94648735	Weak transcription	Chromatin interactive region	1 gene(s)	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94645200-94649200	Weak transcription	Fetal Heart	heart
2	chr3:94646000-94648400	Enhancers	Hela-S3	cervix
3	chr3:94646400-94648000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:94647400-94648200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:94647600-94648000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:94647600-94648000	Enhancers	HepG2	liver
7	chr3:94647600-94648200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:94647600-94648200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:94647800-94648400	Flanking Active TSS	A549	lung

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