Variant report

Variant	nsv1011226
Chromosome Location	chr3:21489712-21525789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21508162..21510011-chr3:21513396..21515534,2	K562	blood:
2	chr3:20381763..20382471-chr3:21525223..21526354,4	MCF-7	breast:
3	chr3:21525648..21526262-chr3:21592336..21593160,2	MCF-7	breast:
4	chr3:21511527..21513204-chr3:21517640..21519938,2	K562	blood:
5	chr3:21434090..21435912-chr3:21501028..21503829,2	K562	blood:
6	chr3:21525568..21526468-chr3:21935899..21936657,2	MCF-7	breast:
7	chr3:21491005..21492571-chr3:21495896..21498520,2	K562	blood:
8	chr3:21491005..21492571-chr3:21495896..21498520,2	K562	blood:
9	chr3:21508162..21510011-chr3:21513396..21515534,2	K562	blood:
10	chr3:21511527..21513204-chr3:21517640..21519938,2	K562	blood:

No data

Extended variants
information (count: 1519 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17008797	chr3:21489712-21489713	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9824944	chr3:21489713-21489714	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116317835	chr3:21489764-21489765	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550273143	chr3:21489808-21489809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528800728	chr3:21489831-21489832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142783409	chr3:21489855-21489856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547682349	chr3:21489860-21489861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568675206	chr3:21489899-21489900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374917681	chr3:21489917-21489918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150775594	chr3:21489986-21489987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535913600	chr3:21490106-21490107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183078626	chr3:21490134-21490135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs424695	chr3:21490145-21490146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116177752	chr3:21490154-21490155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577032946	chr3:21490155-21490156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115134405	chr3:21490197-21490198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7647569	chr3:21490234-21490235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs390039	chr3:21490246-21490247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111431934	chr3:21490247-21490248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs446720	chr3:21490248-21490249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563022993	chr3:21490251-21490252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530555298	chr3:21490287-21490288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139183397	chr3:21490296-21490297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533789681	chr3:21490311-21490312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201169245	chr3:21490355-21490356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs63456861	chr3:21490356-21490357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189043723	chr3:21490407-21490408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs453990	chr3:21490422-21490423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs447169	chr3:21490448-21490449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547329351	chr3:21490457-21490458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568813328	chr3:21490466-21490467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4597731	chr3:21490473-21490474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529505685	chr3:21490521-21490522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551222236	chr3:21490525-21490526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201030224	chr3:21490563-21490564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201225051	chr3:21490564-21490565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201448277	chr3:21490567-21490568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199785357	chr3:21490568-21490569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34551871	chr3:21490585-21490586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576047432	chr3:21490596-21490597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10490884	chr3:21490606-21490607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200277552	chr3:21490613-21490614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539562780	chr3:21490619-21490620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144177467	chr3:21490650-21490651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17008810	chr3:21490661-21490662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545135911	chr3:21490681-21490682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377682570	chr3:21490688-21490689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112376409	chr3:21490704-21490705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370467975	chr3:21490768-21490769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543791289	chr3:21490770-21490771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21463000-21491400	Weak transcription	Aorta	Aorta
2	chr3:21477000-21491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:21477000-21507200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21483600-21491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21488400-21490200	Enhancers	HSMM	muscle
6	chr3:21488400-21491200	Weak transcription	Left Ventricle	heart
7	chr3:21488800-21489800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:21488800-21490000	Enhancers	NH-A	brain
9	chr3:21489200-21491200	Weak transcription	Ovary	ovary
10	chr3:21489200-21506600	Weak transcription	Fetal Stomach	stomach
11	chr3:21489400-21490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:21489400-21490400	Enhancers	NHDF-Ad	bronchial
13	chr3:21489400-21490600	Enhancers	Fetal Lung	lung
14	chr3:21489400-21491400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:21489600-21489800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:21490400-21491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:21490600-21491000	Weak transcription	Fetal Lung	lung
18	chr3:21491000-21492600	Enhancers	Fetal Lung	lung
19	chr3:21491200-21491600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:21491200-21491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:21491200-21491600	Enhancers	Fetal Heart	heart
22	chr3:21491200-21491600	Enhancers	Gastric	stomach
23	chr3:21491200-21491800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:21491200-21491800	Enhancers	Left Ventricle	heart
25	chr3:21491200-21491800	Enhancers	Ovary	ovary
26	chr3:21491200-21491800	Enhancers	Pancreas	Pancrea
27	chr3:21491200-21491800	Enhancers	Right Ventricle	heart
28	chr3:21491400-21491600	Genic enhancers	Aorta	Aorta
29	chr3:21491400-21491800	Enhancers	Psoas Muscle	Psoas
30	chr3:21491400-21492000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:21491600-21491800	Enhancers	Aorta	Aorta
32	chr3:21491600-21492400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:21491600-21503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:21491800-21506800	Weak transcription	Aorta	Aorta
35	chr3:21497600-21497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:21498600-21499800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:21499800-21500200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr3:21500200-21501600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:21501600-21503200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:21503200-21504000	Enhancers	NHDF-Ad	bronchial
41	chr3:21503200-21504400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:21503400-21504200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:21504000-21519800	Weak transcription	NHDF-Ad	bronchial
44	chr3:21504400-21508200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:21504800-21505200	Enhancers	Ovary	ovary
46	chr3:21505200-21506200	Weak transcription	Ovary	ovary
47	chr3:21505400-21505600	Enhancers	Fetal Lung	lung
48	chr3:21505400-21506200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:21506200-21506400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:21506200-21506400	Enhancers	Fetal Lung	lung

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