Variant report

Variant	nsv872927
Chromosome Location	chr1:195424142-195557047
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
2	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
3	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
4	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
5	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
6	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
7	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
8	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
9	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
10	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
11	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
12	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
13	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
14	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
15	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
16	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
17	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
18	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
19	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-4	chr1:195436980-195437187	expReg_chr1_18917_-
2	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511
3	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511

No data

Extended variants
information (count: 909 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:909 , 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	rs540131007	chr1:195427025-195427026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144798366	chr1:195427035-195427036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368235880	chr1:195427051-195427052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573715933	chr1:195427071-195427072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544697238	chr1:195427083-195427084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562838917	chr1:195427164-195427165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533195090	chr1:195427207-195427208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551340245	chr1:195427273-195427274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560087054	chr1:195427274-195427275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527993529	chr1:195427316-195427317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189069601	chr1:195427324-195427325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574808286	chr1:195427446-195427447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76280784	chr1:195427533-195427534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550688416	chr1:195427584-195427585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528143896	chr1:195427585-195427586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150322878	chr1:195428015-195428016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532660689	chr1:195428080-195428081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573827477	chr1:195428081-195428082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191881497	chr1:195428155-195428156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184105979	chr1:195428177-195428178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543076983	chr1:195431627-195431628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36028402	chr1:195431630-195431631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564551163	chr1:195431653-195431654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373149925	chr1:195431678-195431679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377756511	chr1:195431714-195431715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141181871	chr1:195431729-195431730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529190481	chr1:195431736-195431737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559591010	chr1:195431742-195431743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529882553	chr1:195431765-195431766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60785962	chr1:195431836-195431837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548345296	chr1:195431838-195431839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143516977	chr1:195431854-195431855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189149532	chr1:195431873-195431874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550579729	chr1:195431885-195431886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148012260	chr1:195432023-195432024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371316510	chr1:195432044-195432045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141669058	chr1:195432049-195432050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150089313	chr1:195432050-195432051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568712451	chr1:195432113-195432114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535743806	chr1:195432129-195432130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138614714	chr1:195432142-195432143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575390542	chr1:195432155-195432156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114311435	chr1:195432156-195432157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558230208	chr1:195432161-195432162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370466659	chr1:195432199-195432200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12744345	chr1:195432220-195432221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541008765	chr1:195432285-195432286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143354177	chr1:195432292-195432293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112854858	chr1:195432357-195432358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574700468	chr1:195432369-195432370	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195427000-195427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:195427200-195427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:195428000-195428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:195431600-195432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:195431800-195432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:195439800-195440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:195441200-195441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:195441200-195441800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:195441400-195441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:195441400-195441800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr1:195441600-195442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
14	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
16	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:195450400-195451600	Enhancers	Ovary	ovary
19	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose
22	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:195546800-195547400	Enhancers	Ovary	ovary
43	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:195554000-195554400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:195554000-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:195554000-195555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:195554200-195554600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:195554200-195554600	Enhancers	HMEC	breast
49	chr1:195554200-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:195554400-195554800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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