Variant report

Variant	nsv877572
Chromosome Location	chr3:144244265-144312402
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
2	chr3:143690164..143692068-chr3:144303430..144306115,2	MCF-7	breast:
3	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
4	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:
5	chr3:143691164..143692662-chr3:144303953..144304678,4	MCF-7	breast:
6	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:
7	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
8	chr3:143690536..143691103-chr3:144304085..144304961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1578 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149383724	chr3:144247305-144247306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368812448	chr3:144247322-144247323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184607222	chr3:144247350-144247351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144715140	chr3:144247425-144247426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189368609	chr3:144247481-144247482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542673351	chr3:144247549-144247550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372873332	chr3:144247593-144247594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539048359	chr3:144247607-144247608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546749668	chr3:144247614-144247615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60503634	chr3:144247637-144247638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563918621	chr3:144247685-144247686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376091844	chr3:144247686-144247687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550684378	chr3:144247719-144247720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370743912	chr3:144247732-144247733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58424525	chr3:144247804-144247805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144448494	chr3:144247927-144247928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146603858	chr3:144247936-144247937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373400790	chr3:144247952-144247953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57959140	chr3:144247960-144247961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534120023	chr3:144248004-144248005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182075514	chr3:144248064-144248065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567842871	chr3:144248087-144248088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184489467	chr3:144248088-144248089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539123114	chr3:144248111-144248112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189105722	chr3:144248117-144248118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575672368	chr3:144248151-144248152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542962877	chr3:144248169-144248170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1527235	chr3:144248218-144248219	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573192088	chr3:144248287-144248288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531909962	chr3:144248327-144248328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533496786	chr3:144248330-144248331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181102960	chr3:144248436-144248437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186458978	chr3:144248439-144248440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534350753	chr3:144248442-144248443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532533645	chr3:144248449-144248450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373409113	chr3:144248450-144248451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191562728	chr3:144248496-144248497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562553960	chr3:144248507-144248508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117376356	chr3:144248513-144248514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143851321	chr3:144248514-144248515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548156449	chr3:144248558-144248559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566517913	chr3:144248588-144248589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150936919	chr3:144248601-144248602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552542643	chr3:144248606-144248607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375434479	chr3:144248621-144248622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377498717	chr3:144248628-144248629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538019425	chr3:144248630-144248631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570863563	chr3:144248686-144248687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556088638	chr3:144248704-144248705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1656986	chr3:144248716-144248717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144247200-144249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:144247600-144247800	Enhancers	Fetal Intestine Large	intestine
3	chr3:144247600-144250000	Enhancers	Fetal Intestine Small	intestine
4	chr3:144248000-144248600	Weak transcription	Fetal Intestine Large	intestine
5	chr3:144248600-144248800	Enhancers	Fetal Intestine Large	intestine
6	chr3:144248800-144249400	Weak transcription	Fetal Intestine Large	intestine
7	chr3:144249200-144252600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:144249600-144249800	Enhancers	Fetal Intestine Large	intestine
9	chr3:144252600-144252800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:144252800-144253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:144253400-144254400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:144254400-144256200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:144255200-144259000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:144256200-144256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:144266000-144266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:144266400-144267800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:144266600-144267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:144266600-144267800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:144266600-144267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:144266800-144268800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:144267000-144269000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:144267200-144268400	Enhancers	Fetal Lung	lung
28	chr3:144267200-144268600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:144267200-144268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:144267200-144269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:144267400-144268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:144267800-144268200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr3:144267800-144268400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr3:144267800-144268400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:144267800-144268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:144268200-144269200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:144268400-144269000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:144268400-144269000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:144268400-144272400	Weak transcription	Fetal Lung	lung
40	chr3:144268800-144269200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:144268800-144271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:144268800-144272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:144268800-144272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:144269000-144270800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:144269000-144271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:144269000-144271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:144269000-144274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:144269200-144272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:144269200-144272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:144269400-144272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links