Variant report

Variant	nsv1001043
Chromosome Location	chr1:95158042-95185906
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:9)
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	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
2	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
3	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
4	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
5	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:
6	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
7	chr1:95158375..95159264-chr1:95267288..95268011,2	MCF-7	breast:
8	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
2	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
3	lnc-F3-2	chr1:95170995-95171095	NONHSAT004607
4	lnc-F3-2	chr1:95180324-95180858	NONHSAT004613
5	lnc-SLC44A3-3	chr1:95166172-95166546	refGeneNc_4335_NR_033998
6	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
7	lnc-F3-2	chr1:95181138-95181467	NONHSAT004613
8	lnc-F3-2	chr1:95170995-95171113	ENSG00000224081.3
9	lnc-SLC44A3-3	chr1:95170016-95170129	refGeneNc_4335_NR_033998

No data

Variant related genes	Relation type
FUBP1	miRNA target sites
FUBP3	miRNA target sites

Extended variants
information (count: 1165 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1165 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10874884	chr1:95158042-95158043	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549779462	chr1:95158054-95158055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs577656572	chr1:95158055-95158056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149558111	chr1:95158084-95158085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77523582	chr1:95158117-95158118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558324491	chr1:95158119-95158120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560715496	chr1:95158129-95158130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571921041	chr1:95158135-95158136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143258126	chr1:95158146-95158147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2040076	chr1:95158158-95158159	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148375378	chr1:95158177-95158178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543297303	chr1:95158196-95158197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11463413	chr1:95158219-95158220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202060292	chr1:95158223-95158224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377713084	chr1:95158226-95158227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2040075	chr1:95158284-95158285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs955723	chr1:95158322-95158323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184300827	chr1:95158324-95158325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2040074	chr1:95158357-95158358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188745818	chr1:95158408-95158409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117421343	chr1:95158426-95158427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562248253	chr1:95158428-95158429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180782500	chr1:95158483-95158484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546168722	chr1:95158484-95158485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571726925	chr1:95158502-95158503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550991705	chr1:95158563-95158564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184372956	chr1:95158570-95158571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538217485	chr1:95158579-95158580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552266503	chr1:95158583-95158584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4847340	chr1:95158603-95158604	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs535444823	chr1:95158615-95158616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190474134	chr1:95158631-95158632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554378178	chr1:95158702-95158703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574289662	chr1:95158709-95158710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs117957440	chr1:95158716-95158717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567527871	chr1:95158719-95158720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556933469	chr1:95158822-95158823	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577182681	chr1:95158860-95158861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142248501	chr1:95158861-95158862	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559760449	chr1:95159013-95159014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377224699	chr1:95159014-95159015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542331757	chr1:95159071-95159072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562317377	chr1:95159126-95159127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531083210	chr1:95159129-95159130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551268083	chr1:95159139-95159140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564592106	chr1:95159283-95159284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532156753	chr1:95159290-95159291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551915697	chr1:95159297-95159298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565321349	chr1:95159326-95159327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550395990	chr1:95159359-95159360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95142800-95167800	Weak transcription	Pancreas	Pancrea
3	chr1:95145200-95163600	Weak transcription	Stomach Mucosa	stomach
4	chr1:95151200-95160600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:95151400-95165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:95153000-95173000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:95153400-95167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:95155000-95160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95155000-95163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:95155800-95173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:95156000-95159200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:95156200-95163200	Weak transcription	NHLF	lung
14	chr1:95156800-95158200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:95157400-95160600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:95157800-95158600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:95158000-95163200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:95158000-95163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:95158200-95158800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:95158600-95158800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr1:95158800-95159000	Strong transcription	Fetal Intestine Small	intestine
22	chr1:95158800-95159200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:95159000-95159800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:95159200-95159400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:95159400-95160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:95159400-95160800	Enhancers	Dnd41	blood
27	chr1:95159600-95160200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:95159600-95160400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:95159800-95160200	Strong transcription	Fetal Intestine Small	intestine
30	chr1:95159800-95160400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:95160000-95160400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:95160000-95160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:95160200-95160400	Enhancers	Primary T cells from cord blood	blood
34	chr1:95160200-95163800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:95160200-95166400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:95160400-95167800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:95160600-95163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:95161400-95162600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:95162600-95163800	Enhancers	HepG2	liver
40	chr1:95162800-95165200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:95163200-95163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:95163200-95164400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:95163200-95164800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:95163200-95165000	Enhancers	NH-A	brain
45	chr1:95163200-95165000	Enhancers	NHLF	lung
46	chr1:95163200-95165200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:95163200-95165800	Enhancers	Fetal Intestine Large	intestine
48	chr1:95163200-95169000	Enhancers	NHDF-Ad	bronchial
49	chr1:95163400-95163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:95163400-95164000	Enhancers	A549	lung

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