Variant report

Variant	nsv441813
Chromosome Location	chr3:24108071-24114939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24040191..24040792-chr3:24110416..24111055,2	MCF-7	breast:
2	chr3:24110053..24112130-chr3:24113190..24114976,2	MCF-7	breast:
3	chr3:23957818..23960523-chr3:24109243..24112140,2	MCF-7	breast:
4	chr3:24110646..24111147-chr3:24190699..24191477,2	K562	blood:
5	chr3:24110053..24112130-chr3:24113190..24114976,2	MCF-7	breast:
6	chr3:24110281..24111164-chr3:24722093..24722774,3	K562	blood:
7	chr3:24108403..24110217-chr3:24304127..24305953,2	K562	blood:

Variant related genes	Relation type
ENSG00000197885	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 307 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11920383	chr3:24108075-24108076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73822696	chr3:24108136-24108137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11924501	chr3:24108137-24108138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148396897	chr3:24108142-24108143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538195214	chr3:24108301-24108302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202215757	chr3:24108322-24108323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556715995	chr3:24108329-24108330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578118610	chr3:24108345-24108346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188966454	chr3:24108398-24108399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181034993	chr3:24108420-24108421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553083182	chr3:24108442-24108443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142581552	chr3:24108482-24108483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185540376	chr3:24108517-24108518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573010741	chr3:24108526-24108527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72628141	chr3:24108530-24108531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146458112	chr3:24108539-24108540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564670281	chr3:24108546-24108547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188690002	chr3:24108555-24108556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143385957	chr3:24108562-24108563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567047817	chr3:24108563-24108564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534094456	chr3:24108599-24108600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549656417	chr3:24108629-24108630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575849457	chr3:24108655-24108656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567932578	chr3:24108679-24108680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538258796	chr3:24108682-24108683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180817327	chr3:24108746-24108747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578177809	chr3:24108747-24108748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544590584	chr3:24108806-24108807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561535111	chr3:24108836-24108837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572207154	chr3:24108845-24108846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114555401	chr3:24108868-24108869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146723192	chr3:24108873-24108874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73822697	chr3:24108914-24108915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543046091	chr3:24108921-24108922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564671079	chr3:24108922-24108923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564538896	chr3:24108923-24108924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73134559	chr3:24108961-24108962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11924778	chr3:24108982-24108983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559139668	chr3:24108998-24108999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533339061	chr3:24109025-24109026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62253449	chr3:24109028-24109029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7612158	chr3:24109112-24109113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs549277796	chr3:24109130-24109131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567993948	chr3:24109141-24109142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186152198	chr3:24109144-24109145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550238786	chr3:24109154-24109155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571676309	chr3:24109182-24109183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560202913	chr3:24109192-24109193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538607456	chr3:24109286-24109287	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554262075	chr3:24109296-24109297	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24101400-24119200	Weak transcription	Aorta	Aorta
2	chr3:24102200-24109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24102200-24110400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:24105000-24110200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:24107600-24108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:24108000-24108400	Enhancers	Placenta	Placenta
7	chr3:24108800-24109200	Enhancers	K562	blood
8	chr3:24108800-24109400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:24108800-24109400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:24108800-24109400	Enhancers	NHDF-Ad	bronchial
11	chr3:24108800-24115200	Weak transcription	Right Ventricle	heart
12	chr3:24109000-24109200	Enhancers	HSMM	muscle
13	chr3:24109200-24109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:24109400-24110400	Weak transcription	HSMM	muscle
15	chr3:24110200-24111000	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:24110400-24111000	Enhancers	HSMM	muscle
17	chr3:24110400-24111600	Enhancers	Colon Smooth Muscle	Colon

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