Variant report

Variant	nsv591930
Chromosome Location	chr3:144152222-144180576
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:
2	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-5	chr3:144166644-144167475	l_2489_chr3:144165582-144166599_brain
2	lnc-C3orf58-5	chr3:144165958-144166168	l_2489_chr3:144165582-144166599_brain
3	lnc-C3orf58-5	chr3:144165583-144165630	l_2489_chr3:144165582-144166599_brain
4	lnc-SLC9A9-1	chr3:144161053-144164686	NONHSAT092536
5	lnc-C3orf58-5	chr3:144166278-144166634	l_2489_chr3:144165582-144166599_brain
6	lnc-SLC9A9-1	chr3:144160698-144160704	NONHSAT092536

No data

Extended variants
information (count: 922 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16855528	chr3:144152222-144152223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536317892	chr3:144152294-144152295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575202459	chr3:144152306-144152307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542592008	chr3:144152314-144152315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554360921	chr3:144152330-144152331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572690044	chr3:144152338-144152339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545549192	chr3:144152411-144152412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564230482	chr3:144152444-144152445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555726053	chr3:144152448-144152449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556397102	chr3:144152477-144152478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531337532	chr3:144152563-144152564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184234118	chr3:144152614-144152615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561392078	chr3:144152645-144152646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188339802	chr3:144152669-144152670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547298611	chr3:144152673-144152674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193162575	chr3:144152690-144152691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533172318	chr3:144152710-144152711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4569699	chr3:144152718-144152719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573979016	chr3:144152771-144152772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551314539	chr3:144152811-144152812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570909613	chr3:144152815-144152816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541105279	chr3:144152837-144152838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537995828	chr3:144152858-144152859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550195800	chr3:144152861-144152862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568468617	chr3:144152901-144152902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536117391	chr3:144152939-144152940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554524250	chr3:144152967-144152968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148898264	chr3:144153017-144153018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546024847	chr3:144153027-144153028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182500288	chr3:144153039-144153040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574539701	chr3:144153043-144153044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576082208	chr3:144153044-144153045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543154412	chr3:144153072-144153073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187245672	chr3:144153157-144153158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191280900	chr3:144153217-144153218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540897574	chr3:144153225-144153226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143669946	chr3:144153226-144153227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367603093	chr3:144153244-144153245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183715714	chr3:144153273-144153274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62275519	chr3:144153295-144153296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376031081	chr3:144153347-144153348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531785850	chr3:144153426-144153427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576143857	chr3:144153447-144153448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550307718	chr3:144153451-144153452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563747428	chr3:144153499-144153500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568431867	chr3:144153500-144153501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367771304	chr3:144153519-144153520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535874011	chr3:144153545-144153546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547842233	chr3:144153551-144153552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141010707	chr3:144153640-144153641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144152000-144152600	Enhancers	GM12878-XiMat	blood
2	chr3:144152600-144156800	Weak transcription	GM12878-XiMat	blood
3	chr3:144156800-144157000	Enhancers	GM12878-XiMat	blood
4	chr3:144156800-144157200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:144156800-144157200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:144156800-144157400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:144157000-144158200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr3:144163000-144163600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:144167200-144167400	ZNF genes & repeats	Aorta	Aorta
10	chr3:144167400-144176000	Weak transcription	Aorta	Aorta
11	chr3:144174400-144176800	Enhancers	Fetal Heart	heart
12	chr3:144174600-144175200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:144175200-144177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:144176000-144176200	ZNF genes & repeats	Aorta	Aorta
15	chr3:144176400-144177400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:144177000-144177400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:144177400-144181000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:144177400-144181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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