Variant report

Variant	esv1840124
Chromosome Location	chr3:21706503-21712269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21709988..21712111-chr3:21717387..21720312,2	K562	blood:
2	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
3	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:
4	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
5	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:

Extended variants
information (count: 259 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28537838	chr3:21706503-21706504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369192395	chr3:21706520-21706521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201872995	chr3:21706551-21706552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374029549	chr3:21706557-21706558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367558175	chr3:21706560-21706561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557079862	chr3:21706566-21706567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569890240	chr3:21706578-21706579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536988519	chr3:21706587-21706588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138873416	chr3:21706614-21706615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190329348	chr3:21706652-21706653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540706895	chr3:21706664-21706665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552996056	chr3:21706666-21706667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529105068	chr3:21706669-21706670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574467791	chr3:21706746-21706747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541763792	chr3:21706768-21706769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549295558	chr3:21706776-21706777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115188825	chr3:21706804-21706805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373985900	chr3:21706821-21706822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199955803	chr3:21706871-21706872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546570417	chr3:21706901-21706902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574848721	chr3:21706905-21706906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528730771	chr3:21706966-21706967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546894380	chr3:21707010-21707011	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568515051	chr3:21707073-21707074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529377399	chr3:21707081-21707082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376408499	chr3:21707084-21707085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs568957388	chr3:21707114-21707115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181482168	chr3:21707143-21707144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558455022	chr3:21707145-21707146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75204058	chr3:21707179-21707180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187428517	chr3:21707192-21707193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35965742	chr3:21707203-21707204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551367222	chr3:21707204-21707205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376389373	chr3:21707211-21707212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs142843295	chr3:21707237-21707238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574435897	chr3:21707241-21707242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541603661	chr3:21707255-21707256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs556915940	chr3:21707281-21707282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34223431	chr3:21707282-21707283	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575343804	chr3:21707288-21707289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546224994	chr3:21707302-21707303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150379118	chr3:21707394-21707395	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573506131	chr3:21707410-21707411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs62237415	chr3:21707449-21707450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573602966	chr3:21707456-21707457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540779775	chr3:21707477-21707478	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138124263	chr3:21707514-21707515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553588057	chr3:21707552-21707553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192109918	chr3:21707553-21707554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7610303	chr3:21707557-21707558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21683800-21706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:21685600-21707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:21687200-21709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:21687400-21706800	Weak transcription	Fetal Lung	lung
5	chr3:21688000-21707000	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:21696600-21713400	Weak transcription	Fetal Heart	heart
7	chr3:21696800-21713200	Weak transcription	NHDF-Ad	bronchial
8	chr3:21699000-21707000	Weak transcription	Fetal Stomach	stomach
9	chr3:21702600-21706800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:21703800-21709600	Weak transcription	Left Ventricle	heart
11	chr3:21705200-21706800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:21705200-21710000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:21705200-21713800	Weak transcription	Psoas Muscle	Psoas
14	chr3:21705800-21706600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:21705800-21706600	Weak transcription	HMEC	breast
16	chr3:21706200-21707400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:21706200-21707600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:21706200-21707800	Enhancers	Aorta	Aorta
19	chr3:21706400-21707000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:21706400-21707200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:21706400-21707400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:21706400-21707400	Enhancers	Fetal Brain Female	brain
23	chr3:21706400-21707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:21706400-21707800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:21706400-21708000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:21706400-21708000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:21706600-21707400	Enhancers	Stomach Smooth Muscle	stomach
28	chr3:21706600-21707400	Enhancers	HMEC	breast
29	chr3:21706600-21707800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:21706600-21707800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:21706600-21707800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:21706600-21708000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:21706600-21708000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:21706800-21707200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:21706800-21707200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:21706800-21707200	Enhancers	Fetal Brain Male	brain
37	chr3:21706800-21707400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:21706800-21707400	Enhancers	Brain Substantia Nigra	brain
39	chr3:21706800-21707400	Enhancers	Fetal Lung	lung
40	chr3:21706800-21707800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:21706800-21707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:21707000-21707200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:21707000-21707400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:21707000-21707400	Enhancers	NH-A	brain
45	chr3:21707000-21707600	Enhancers	Fetal Muscle Leg	muscle
46	chr3:21707000-21707800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr3:21707000-21707800	Enhancers	Fetal Stomach	stomach
48	chr3:21707000-21708000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:21707000-21708000	Enhancers	Brain Germinal Matrix	brain
50	chr3:21707200-21707400	Flanking Active TSS	Fetal Brain Male	brain

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