Variant report

Variant	nsv522821
Chromosome Location	chr3:143899074-143902027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143900814..143902970-chr3:143905127..143907243,2	K562	blood:
2	chr3:143890771..143894320-chr3:143898037..143901332,4	MCF-7	breast:
3	chr3:143892804..143894519-chr3:143897127..143900073,2	K562	blood:

Variant related genes	Relation type
ENSG00000222778	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13067831	chr3:143899074-143899075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189224266	chr3:143899089-143899090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182407475	chr3:143899111-143899112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7630725	chr3:143899145-143899146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550374933	chr3:143899151-143899152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562401937	chr3:143899228-143899229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571345883	chr3:143899303-143899304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369687870	chr3:143899317-143899318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529601578	chr3:143899319-143899320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547459983	chr3:143899364-143899365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200249409	chr3:143899385-143899386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372014322	chr3:143899445-143899446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551200537	chr3:143899457-143899458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565123790	chr3:143899529-143899530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372443755	chr3:143899589-143899590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56171473	chr3:143899608-143899609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536885496	chr3:143899620-143899621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555136898	chr3:143899650-143899651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573647233	chr3:143899651-143899652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186581987	chr3:143899765-143899766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190214179	chr3:143899771-143899772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572366336	chr3:143899787-143899788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55835333	chr3:143899840-143899841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564449734	chr3:143899843-143899844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181917098	chr3:143899918-143899919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538885581	chr3:143900000-143900001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562260651	chr3:143900012-143900013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1550781	chr3:143900023-143900024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548117052	chr3:143900036-143900037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559959529	chr3:143900047-143900048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532819672	chr3:143900192-143900193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185625903	chr3:143900199-143900200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9822743	chr3:143900231-143900232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537150129	chr3:143900253-143900254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376060524	chr3:143900260-143900261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9822894	chr3:143900277-143900278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567132932	chr3:143900299-143900300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536512662	chr3:143900300-143900301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534476518	chr3:143900369-143900370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151072914	chr3:143900429-143900430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372729259	chr3:143900448-143900449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375948654	chr3:143900488-143900489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577846720	chr3:143900522-143900523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539482466	chr3:143900524-143900525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558122888	chr3:143900603-143900604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576507053	chr3:143900638-143900639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543934536	chr3:143900650-143900651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554539435	chr3:143900731-143900732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140973299	chr3:143900738-143900739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574849203	chr3:143900745-143900746	Weak transcription Enhancers	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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143896400-143902000	Enhancers	Fetal Intestine Large	intestine
2	chr3:143896800-143899800	Weak transcription	Liver	Liver
3	chr3:143897000-143902800	Enhancers	Fetal Intestine Small	intestine
4	chr3:143898400-143919000	Weak transcription	Ovary	ovary
5	chr3:143898600-143901400	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:143898800-143899800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:143899200-143899400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:143899800-143900400	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:143899800-143900600	Enhancers	Liver	Liver
10	chr3:143900000-143900200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:143901400-143901600	Enhancers	Brain Hippocampus Middle	brain
12	chr3:143901600-143902000	Enhancers	Brain Inferior Temporal Lobe	brain

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