Variant report

Variant	nsv1012058
Chromosome Location	chr3:144139713-144183108
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:
2	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
3	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9A9-1	chr3:144160698-144160704	NONHSAT092536
2	lnc-SLC9A9-1	chr3:144161053-144164686	NONHSAT092536
3	lnc-C3orf58-5	chr3:144166278-144166634	l_2489_chr3:144165582-144166599_brain
4	lnc-C3orf58-5	chr3:144165583-144165630	l_2489_chr3:144165582-144166599_brain
5	lnc-C3orf58-4	chr3:144142931-144144066	ucscGeneNc_uc003eve_1
6	lnc-C3orf58-4	chr3:144140007-144140185	ucscGeneNc_uc003eve_1
7	lnc-C3orf58-5	chr3:144166644-144167475	l_2489_chr3:144165582-144166599_brain
8	lnc-C3orf58-5	chr3:144165958-144166168	l_2489_chr3:144165582-144166599_brain

No data

Extended variants
information (count: 1326 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541634041	chr3:144140092-144140093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572754538	chr3:144140100-144140101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187825583	chr3:144140113-144140114	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs140095511	chr3:144140133-144140134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548238372	chr3:144142937-144142938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs368347051	chr3:144142972-144142973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566548913	chr3:144142977-144142978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs533911423	chr3:144142980-144142981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558579678	chr3:144143041-144143042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570512040	chr3:144143063-144143064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs190915442	chr3:144143084-144143085	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182624046	chr3:144143101-144143102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs150382514	chr3:144143143-144143144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs72996973	chr3:144143163-144143164	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115537566	chr3:144143168-144143169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572990699	chr3:144143181-144143182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs2249820	chr3:144143213-144143214	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564888500	chr3:144143280-144143281	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs16855508	chr3:144143313-144143314	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544852321	chr3:144143315-144143316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs563058666	chr3:144143316-144143317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544177335	chr3:144143329-144143330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs530449228	chr3:144143336-144143337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs192491954	chr3:144143346-144143347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184850917	chr3:144143350-144143351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs78334281	chr3:144143359-144143360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs16855511	chr3:144143395-144143396	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570422518	chr3:144143476-144143477	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs147343797	chr3:144143531-144143532	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs11274581	chr3:144143556-144143557	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs68123247	chr3:144143557-144143558	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537459183	chr3:144143590-144143591	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs550021671	chr3:144143601-144143602	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs187243484	chr3:144143602-144143603	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535781242	chr3:144143654-144143655	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs541666116	chr3:144143655-144143656	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs145016659	chr3:144143695-144143696	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs138808066	chr3:144143715-144143716	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs192112115	chr3:144143769-144143770	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558638987	chr3:144143780-144143781	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576795774	chr3:144143799-144143800	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs544256672	chr3:144143857-144143858	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs149379565	chr3:144143903-144143904	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575024632	chr3:144143964-144143965	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542557981	chr3:144143969-144143970	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs200882199	chr3:144144024-144144025	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560623855	chr3:144144041-144144042	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184786349	chr3:144144075-144144076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111780089	chr3:144144077-144144078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552268603	chr3:144144090-144144091	Enhancers	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144143400-144144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:144143600-144144200	Enhancers	Fetal Lung	lung
3	chr3:144143800-144144600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:144144200-144144600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr3:144144600-144148400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:144148400-144148800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:144148400-144148800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:144148400-144149000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:144148400-144149000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:144148600-144149000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:144148600-144149000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:144148600-144149200	Enhancers	NHEK	skin
13	chr3:144148600-144151000	Enhancers	GM12878-XiMat	blood
14	chr3:144151000-144152000	Weak transcription	GM12878-XiMat	blood
15	chr3:144152000-144152600	Enhancers	GM12878-XiMat	blood
16	chr3:144152600-144156800	Weak transcription	GM12878-XiMat	blood
17	chr3:144156800-144157000	Enhancers	GM12878-XiMat	blood
18	chr3:144156800-144157200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:144156800-144157200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:144156800-144157400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:144157000-144158200	ZNF genes & repeats	GM12878-XiMat	blood
22	chr3:144163000-144163600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:144167200-144167400	ZNF genes & repeats	Aorta	Aorta
24	chr3:144167400-144176000	Weak transcription	Aorta	Aorta
25	chr3:144174400-144176800	Enhancers	Fetal Heart	heart
26	chr3:144174600-144175200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:144175200-144177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:144176000-144176200	ZNF genes & repeats	Aorta	Aorta
29	chr3:144176400-144177400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:144177000-144177400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144177400-144181000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:144177400-144181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:144181000-144181400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:144181000-144181400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:144181000-144181400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:144181000-144181400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:144181000-144181600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:144181200-144181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:144181400-144181800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:144181400-144185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:144181400-144188400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:144181800-144183600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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