Variant report

Variant	nsv822274
Chromosome Location	chr3:144059205-144064282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:
2	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:
3	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:
4	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554409545	chr3:144059214-144059215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75393214	chr3:144059225-144059226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79786425	chr3:144059226-144059227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188209673	chr3:144059233-144059234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111714802	chr3:144059282-144059283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141923139	chr3:144059334-144059335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181035752	chr3:144059404-144059405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150693590	chr3:144059408-144059409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139957166	chr3:144059409-144059410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57444904	chr3:144059438-144059439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74826117	chr3:144059449-144059450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377209836	chr3:144059459-144059460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61146072	chr3:144059460-144059461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185435225	chr3:144059493-144059494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142366090	chr3:144059496-144059497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551694279	chr3:144059513-144059514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563432180	chr3:144059522-144059523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530727882	chr3:144059527-144059528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190641181	chr3:144059528-144059529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181493180	chr3:144059540-144059541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568801936	chr3:144059562-144059563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61200466	chr3:144059605-144059606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540772239	chr3:144059608-144059609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535977554	chr3:144059643-144059644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547450900	chr3:144059665-144059666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566109480	chr3:144059681-144059682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77268971	chr3:144059706-144059707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558034072	chr3:144059736-144059737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576203684	chr3:144059737-144059738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537263478	chr3:144059743-144059744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532995624	chr3:144059754-144059755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555576145	chr3:144059768-144059769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373698672	chr3:144059770-144059771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541168283	chr3:144059771-144059772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185828822	chr3:144059772-144059773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72999980	chr3:144059816-144059817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147551995	chr3:144059857-144059858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145949305	chr3:144059868-144059869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190684403	chr3:144059931-144059932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113519071	chr3:144059953-144059954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181106686	chr3:144060029-144060030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185604675	chr3:144060039-144060040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549286999	chr3:144060124-144060125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190649761	chr3:144060126-144060127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150202703	chr3:144060138-144060139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547882189	chr3:144060155-144060156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565891224	chr3:144060196-144060197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12637613	chr3:144060249-144060250	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547285648	chr3:144060301-144060302	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs182943817	chr3:144060314-144060315	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144058600-144060600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr3:144059000-144059800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:144059000-144060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:144059400-144060400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:144059400-144060800	Enhancers	Brain Hippocampus Middle	brain
6	chr3:144059600-144060800	Enhancers	Dnd41	blood
7	chr3:144059800-144060600	Enhancers	Brain Angular Gyrus	brain
8	chr3:144060000-144060200	Enhancers	Fetal Intestine Small	intestine
9	chr3:144060200-144060400	Active TSS	Fetal Intestine Large	intestine
10	chr3:144060200-144060600	Enhancers	Fetal Heart	heart
11	chr3:144060200-144060600	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr3:144060200-144060600	Enhancers	Fetal Lung	lung
13	chr3:144060200-144060600	Bivalent Enhancer	Fetal Thymus	thymus
14	chr3:144060400-144060600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:144060400-144060600	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr3:144060400-144060600	Enhancers	Ovary	ovary
17	chr3:144060400-144060800	Enhancers	Liver	Liver
18	chr3:144060400-144060800	Enhancers	Brain Substantia Nigra	brain
19	chr3:144060400-144060800	Enhancers	Pancreas	Pancrea
20	chr3:144060600-144060800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:144060600-144060800	Enhancers	Fetal Intestine Small	intestine
22	chr3:144060600-144061200	Enhancers	Fetal Intestine Large	intestine
23	chr3:144060600-144061600	Weak transcription	Fetal Heart	heart
24	chr3:144060600-144061600	Weak transcription	Fetal Lung	lung
25	chr3:144060600-144061800	Weak transcription	Ovary	ovary
26	chr3:144060800-144061800	Weak transcription	Liver	Liver
27	chr3:144060800-144062000	Weak transcription	Fetal Intestine Small	intestine
28	chr3:144060800-144062600	Weak transcription	Dnd41	blood
29	chr3:144061200-144062200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:144061600-144063400	Enhancers	Fetal Lung	lung
31	chr3:144061800-144062200	Flanking Active TSS	Liver	Liver
32	chr3:144061800-144062200	Enhancers	Ovary	ovary
33	chr3:144062000-144063000	Enhancers	Fetal Intestine Small	intestine
34	chr3:144062200-144062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:144062200-144062400	Enhancers	Fetal Heart	heart
36	chr3:144062200-144062400	Weak transcription	Ovary	ovary
37	chr3:144062200-144062600	Enhancers	Fetal Intestine Large	intestine
38	chr3:144062200-144063000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:144062200-144063000	Enhancers	Liver	Liver
40	chr3:144062400-144063200	Enhancers	Ovary	ovary
41	chr3:144062600-144063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:144062600-144065600	Enhancers	Dnd41	blood
43	chr3:144062800-144064400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:144063000-144063200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:144063200-144064200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:144063200-144064200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:144063200-144064200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr3:144063200-144064400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:144063200-144064600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:144063200-144064600	Enhancers	HUES48 Cell Line	embryonic stem cell

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