Variant report

Variant	nsv1003451
Chromosome Location	chr3:21623631-21662267
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21661677..21663876-chr3:21672087..21673595,2	K562	blood:
2	chr3:21550526..21552335-chr3:21623798..21625685,2	K562	blood:
3	chr3:21613754..21616007-chr3:21629538..21631855,2	K562	blood:
4	chr3:21648769..21651752-chr3:21654371..21658356,4	K562	blood:
5	chr3:21660057..21662035-chr3:21669557..21671867,2	MCF-7	breast:
6	chr3:21647238..21649840-chr3:21661152..21662848,2	MCF-7	breast:
7	chr3:21631953..21633600-chr3:21636027..21637703,2	K562	blood:
8	chr3:21634166..21637073-chr3:21637785..21639795,3	K562	blood:
9	chr3:21647238..21649840-chr3:21661152..21662848,2	MCF-7	breast:
10	chr3:21622806..21624810-chr3:21626312..21628211,2	K562	blood:
11	chr3:21631953..21633600-chr3:21636027..21637703,2	K562	blood:
12	chr3:21648769..21651752-chr3:21654371..21658356,4	K562	blood:
13	chr3:21647916..21649691-chr3:21651335..21653463,2	K562	blood:
14	chr3:21647916..21649691-chr3:21651335..21653463,2	K562	blood:
15	chr3:21622806..21624810-chr3:21626312..21628211,2	K562	blood:
16	chr3:21634166..21637073-chr3:21637785..21639795,3	K562	blood:

No data

Extended variants
information (count: 1706 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1706 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1841914	chr3:21623631-21623632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575396418	chr3:21623652-21623653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191698782	chr3:21623757-21623758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181439109	chr3:21623777-21623778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186329564	chr3:21623797-21623798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375693118	chr3:21623906-21623907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564945791	chr3:21623920-21623921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536240712	chr3:21623944-21623945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555452666	chr3:21623952-21623953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540533386	chr3:21623959-21623960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139723006	chr3:21624005-21624006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574020238	chr3:21624027-21624028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544383548	chr3:21624058-21624059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34405507	chr3:21624079-21624080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562781665	chr3:21624080-21624081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533248763	chr3:21624097-21624098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373513006	chr3:21624100-21624101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551856731	chr3:21624104-21624105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190735906	chr3:21624106-21624107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549234491	chr3:21624124-21624125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11928031	chr3:21624133-21624134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527700711	chr3:21624144-21624145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546550884	chr3:21624151-21624152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568341811	chr3:21624156-21624157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35612116	chr3:21624191-21624192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550788850	chr3:21624216-21624217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34939088	chr3:21624244-21624245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34190489	chr3:21624245-21624246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369227530	chr3:21624246-21624247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149786377	chr3:21624260-21624261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142385843	chr3:21624263-21624264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73033338	chr3:21624264-21624265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539118577	chr3:21624298-21624299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557847812	chr3:21624301-21624302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111501601	chr3:21624306-21624307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113112991	chr3:21624311-21624312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182215957	chr3:21624331-21624332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573983463	chr3:21624333-21624334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62236136	chr3:21624451-21624452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543676641	chr3:21624460-21624461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186822815	chr3:21624484-21624485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577825921	chr3:21624493-21624494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545137540	chr3:21624494-21624495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74482063	chr3:21624501-21624502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527812272	chr3:21624509-21624510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141417001	chr3:21624511-21624512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545730279	chr3:21624518-21624519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561309292	chr3:21624519-21624520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529202634	chr3:21624524-21624525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373272131	chr3:21624553-21624554	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21603200-21634400	Weak transcription	Left Ventricle	heart
2	chr3:21618400-21643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:21622800-21634400	Weak transcription	Aorta	Aorta
4	chr3:21623200-21625800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21625000-21655200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:21625800-21629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:21634200-21660200	Weak transcription	K562	blood
8	chr3:21634400-21634600	Enhancers	Left Ventricle	heart
9	chr3:21634400-21634800	Enhancers	Psoas Muscle	Psoas
10	chr3:21634400-21636200	Enhancers	Aorta	Aorta
11	chr3:21634800-21635800	Weak transcription	Psoas Muscle	Psoas
12	chr3:21635200-21635600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:21635400-21636000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:21635800-21636000	Enhancers	Psoas Muscle	Psoas
15	chr3:21636200-21647400	Weak transcription	Aorta	Aorta
16	chr3:21640600-21640800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:21640800-21641800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:21641200-21641600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:21641600-21642800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:21641800-21642000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:21641800-21643000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:21641800-21643400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:21642000-21642600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:21642600-21643200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:21642800-21643000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:21643000-21644200	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:21643200-21643600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:21646000-21646200	Enhancers	Fetal Lung	lung
29	chr3:21646200-21669000	Weak transcription	Fetal Lung	lung
30	chr3:21646800-21662200	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:21647400-21647600	Enhancers	Aorta	Aorta
32	chr3:21647600-21647800	Genic enhancers	Aorta	Aorta
33	chr3:21647800-21650400	Weak transcription	Aorta	Aorta
34	chr3:21650400-21650600	Enhancers	Aorta	Aorta
35	chr3:21650600-21651000	Weak transcription	Aorta	Aorta
36	chr3:21651000-21651200	Enhancers	Aorta	Aorta
37	chr3:21651000-21651600	Enhancers	Fetal Stomach	stomach
38	chr3:21651200-21652200	Weak transcription	Aorta	Aorta
39	chr3:21651200-21655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:21651600-21686600	Weak transcription	Fetal Stomach	stomach
41	chr3:21652200-21653400	Strong transcription	Aorta	Aorta
42	chr3:21653400-21655400	Weak transcription	Aorta	Aorta
43	chr3:21655000-21655600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:21655000-21655600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:21655200-21655800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:21655400-21655800	Strong transcription	Aorta	Aorta
47	chr3:21655600-21656000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:21655600-21661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:21655800-21656000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:21655800-21656400	Weak transcription	Aorta	Aorta

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