Variant report

Variant	nsv877573
Chromosome Location	chr3:144265840-144323993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:
2	chr3:143691164..143692662-chr3:144303953..144304678,4	MCF-7	breast:
3	chr3:143690536..143691103-chr3:144304085..144304961,2	MCF-7	breast:
4	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
5	chr3:143690164..143692068-chr3:144303430..144306115,2	MCF-7	breast:
6	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:
7	chr3:144323853..144325569-chr3:144326715..144329004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1246 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532498641	chr3:144266043-144266044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533334727	chr3:144266078-144266079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569036562	chr3:144266225-144266226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181545679	chr3:144266299-144266300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549159480	chr3:144266329-144266330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570720721	chr3:144266393-144266394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55907945	chr3:144266395-144266396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538258851	chr3:144266398-144266399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567756417	chr3:144266459-144266460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534698603	chr3:144266530-144266531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553378206	chr3:144266554-144266555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577894142	chr3:144266567-144266568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538980907	chr3:144266572-144266573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7630402	chr3:144266585-144266586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575406821	chr3:144266617-144266618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151071102	chr3:144266640-144266641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560782201	chr3:144266642-144266643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186278303	chr3:144266652-144266653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539846879	chr3:144266671-144266672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564904010	chr3:144266744-144266745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532436193	chr3:144266798-144266799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190209134	chr3:144266810-144266811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140989791	chr3:144266849-144266850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562772294	chr3:144266871-144266872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114081661	chr3:144266875-144266876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548404203	chr3:144266916-144266917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200203380	chr3:144266963-144266964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138720493	chr3:144267003-144267004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36150117	chr3:144267006-144267007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13070628	chr3:144267007-144267008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3080378	chr3:144267024-144267025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60567698	chr3:144267026-144267027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111580058	chr3:144267043-144267044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372673712	chr3:144267056-144267057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546574089	chr3:144267060-144267061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76351536	chr3:144267072-144267073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538670525	chr3:144267086-144267087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557186999	chr3:144267122-144267123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575543742	chr3:144267129-144267130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536438787	chr3:144267207-144267208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555193365	chr3:144267217-144267218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572831641	chr3:144267222-144267223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535611086	chr3:144267246-144267247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182714995	chr3:144267260-144267261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564992073	chr3:144267263-144267264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576858689	chr3:144267264-144267265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544234222	chr3:144267350-144267351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185770964	chr3:144267364-144267365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530049136	chr3:144267401-144267402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191124432	chr3:144267444-144267445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144266000-144266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:144266400-144267800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:144266600-144267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:144266600-144267800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:144266600-144267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:144266800-144268800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:144267000-144269000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:144267200-144268400	Enhancers	Fetal Lung	lung
14	chr3:144267200-144268600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr3:144267200-144268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:144267200-144269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:144267400-144268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:144267800-144268200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:144267800-144268400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:144267800-144268400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr3:144267800-144268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:144268200-144269200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:144268400-144269000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:144268400-144269000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:144268400-144272400	Weak transcription	Fetal Lung	lung
26	chr3:144268800-144269200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:144268800-144271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:144268800-144272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:144268800-144272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:144269000-144270800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144269000-144271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:144269000-144271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:144269000-144274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:144269200-144272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:144269200-144272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:144269400-144272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:144270800-144273000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:144271000-144271200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:144271000-144272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:144271200-144271800	Enhancers	Fetal Intestine Small	intestine
41	chr3:144271400-144272400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:144271800-144272800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:144271800-144272800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:144271800-144273000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:144271800-144275200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:144272000-144272800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:144272000-144272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:144272000-144273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:144272200-144273000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:144272200-144273200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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