Variant report

Variant	nsv591929
Chromosome Location	chr3:144123401-144188561
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:7)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
2	chr3:144126513..144128962-chr3:144132805..144134458,2	MCF-7	breast:
3	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
4	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:
5	chr3:144126513..144128962-chr3:144132805..144134458,2	MCF-7	breast:
6	chr3:144137145..144137665-chr9:72287895..72288430,2	MCF-7	breast:
7	chr3:144160612..144162178-chr3:144170753..144172779,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-5	chr3:144165583-144165630	l_2489_chr3:144165582-144166599_brain
2	lnc-C3orf58-5	chr3:144166644-144167475	l_2489_chr3:144165582-144166599_brain
3	lnc-SLC9A9-1	chr3:144161053-144164686	NONHSAT092536
4	lnc-C3orf58-4	chr3:144142931-144144066	ucscGeneNc_uc003eve_1
5	lnc-SLC9A9-1	chr3:144160698-144160704	NONHSAT092536
6	lnc-C3orf58-4	chr3:144140007-144140185	ucscGeneNc_uc003eve_1
7	lnc-C3orf58-4	chr3:144134737-144134800	ucscGeneNc_uc003eve_1
8	lnc-C3orf58-5	chr3:144165958-144166168	l_2489_chr3:144165582-144166599_brain
9	lnc-C3orf58-5	chr3:144166278-144166634	l_2489_chr3:144165582-144166599_brain
10	lnc-C3orf58-4	chr3:144137955-144138178	ucscGeneNc_uc003eve_1
11	lnc-C3orf58-4	chr3:144128207-144128428	ucscGeneNc_uc003eve_1

No data

Extended variants
information (count: 1858 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490851	chr3:144123401-144123402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116554609	chr3:144123402-144123403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147837863	chr3:144123443-144123444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557715681	chr3:144123454-144123455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575985830	chr3:144123462-144123463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537341068	chr3:144123464-144123465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555519727	chr3:144123470-144123471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573888414	chr3:144123487-144123488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573453974	chr3:144123489-144123490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540836194	chr3:144123499-144123500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368762247	chr3:144123519-144123520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572228413	chr3:144123583-144123584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139895082	chr3:144123585-144123586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145381979	chr3:144123588-144123589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373818875	chr3:144123604-144123605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189918513	chr3:144123655-144123656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113339967	chr3:144123685-144123686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35064105	chr3:144123747-144123748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572112082	chr3:144123791-144123792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562379960	chr3:144123805-144123806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9879816	chr3:144123813-144123814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77672552	chr3:144123839-144123840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73149845	chr3:144123853-144123854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34499316	chr3:144123870-144123871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369642507	chr3:144123901-144123902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181422250	chr3:144123927-144123928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183710937	chr3:144123991-144123992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533029075	chr3:144124024-144124025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551226778	chr3:144124031-144124032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569627098	chr3:144124037-144124038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116221304	chr3:144124054-144124055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555200556	chr3:144124148-144124149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531665495	chr3:144124232-144124233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561864308	chr3:144124278-144124279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543683787	chr3:144124327-144124328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534482316	chr3:144124386-144124387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369228112	chr3:144124402-144124403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75230362	chr3:144124443-144124444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114575832	chr3:144124514-144124515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546275393	chr3:144124545-144124546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557974374	chr3:144124549-144124550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576346893	chr3:144124558-144124559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543470388	chr3:144124572-144124573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529200936	chr3:144124578-144124579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150217182	chr3:144124585-144124586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368117501	chr3:144124652-144124653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28602686	chr3:144124757-144124758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541782632	chr3:144124819-144124820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559975054	chr3:144124830-144124831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533404195	chr3:144124859-144124860	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144120400-144125000	Enhancers	Fetal Heart	heart
2	chr3:144125000-144126000	Weak transcription	Fetal Heart	heart
3	chr3:144126000-144126400	Enhancers	Fetal Heart	heart
4	chr3:144126000-144127400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:144126200-144127000	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:144126200-144127200	Enhancers	Brain Substantia Nigra	brain
7	chr3:144126200-144127400	Enhancers	Brain Hippocampus Middle	brain
8	chr3:144127400-144128400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:144128400-144128600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:144130800-144131600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:144131400-144131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:144134000-144134600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:144134400-144134800	Active TSS	GM12878-XiMat	blood
14	chr3:144134800-144137200	Weak transcription	GM12878-XiMat	blood
15	chr3:144137200-144137800	Enhancers	GM12878-XiMat	blood
16	chr3:144138000-144138400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:144143400-144144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:144143600-144144200	Enhancers	Fetal Lung	lung
19	chr3:144143800-144144600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:144144200-144144600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:144144600-144148400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:144148400-144148800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:144148400-144148800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:144148400-144149000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:144148400-144149000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:144148600-144149000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:144148600-144149000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:144148600-144149200	Enhancers	NHEK	skin
29	chr3:144148600-144151000	Enhancers	GM12878-XiMat	blood
30	chr3:144151000-144152000	Weak transcription	GM12878-XiMat	blood
31	chr3:144152000-144152600	Enhancers	GM12878-XiMat	blood
32	chr3:144152600-144156800	Weak transcription	GM12878-XiMat	blood
33	chr3:144156800-144157000	Enhancers	GM12878-XiMat	blood
34	chr3:144156800-144157200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:144156800-144157200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:144156800-144157400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:144157000-144158200	ZNF genes & repeats	GM12878-XiMat	blood
38	chr3:144163000-144163600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:144167200-144167400	ZNF genes & repeats	Aorta	Aorta
40	chr3:144167400-144176000	Weak transcription	Aorta	Aorta
41	chr3:144174400-144176800	Enhancers	Fetal Heart	heart
42	chr3:144174600-144175200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:144175200-144177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:144176000-144176200	ZNF genes & repeats	Aorta	Aorta
45	chr3:144176400-144177400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:144177000-144177400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:144177400-144181000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:144177400-144181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:144181000-144181400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:144181000-144181400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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