Variant report

Variant	nsv872930
Chromosome Location	chr1:195444102-195552999
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
2	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
3	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
4	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
5	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
6	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
7	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
8	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
9	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
10	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
11	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
12	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
13	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
14	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511
2	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511

No data

Extended variants
information (count: 636 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12094330	chr1:195444102-195444103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545014065	chr1:195444110-195444111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201085280	chr1:195444131-195444132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78420227	chr1:195444141-195444142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147817203	chr1:195444193-195444194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527592554	chr1:195444199-195444200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139563450	chr1:195444215-195444216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145090688	chr1:195444241-195444242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370942585	chr1:195444259-195444260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6695362	chr1:195444261-195444262	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs367916982	chr1:195444269-195444270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538724068	chr1:195444288-195444289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554145857	chr1:195444301-195444302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566031867	chr1:195444303-195444304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536991460	chr1:195444324-195444325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147573247	chr1:195444328-195444329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567839398	chr1:195444368-195444369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576745809	chr1:195444402-195444403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371505390	chr1:195444403-195444404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558856647	chr1:195444436-195444437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10801419	chr1:195444437-195444438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs544739933	chr1:195444472-195444473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550116535	chr1:195444476-195444477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114894269	chr1:195444484-195444485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140683925	chr1:195444492-195444493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571272865	chr1:195444519-195444520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59676307	chr1:195444520-195444521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188602157	chr1:195444548-195444549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531474850	chr1:195444558-195444559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150279932	chr1:195444559-195444560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564889938	chr1:195444564-195444565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193166639	chr1:195444581-195444582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185338378	chr1:195444582-195444583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145873731	chr1:195444597-195444598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11808994	chr1:195450219-195450220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187770291	chr1:195450292-195450293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142892377	chr1:195450328-195450329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550337844	chr1:195450329-195450330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71152376	chr1:195450340-195450341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370252294	chr1:195450371-195450372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6678481	chr1:195450375-195450376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534334005	chr1:195450400-195450401	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547783724	chr1:195450421-195450422	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566391302	chr1:195450436-195450437	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536906045	chr1:195450469-195450470	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569134478	chr1:195450488-195450489	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555148353	chr1:195450517-195450518	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576558325	chr1:195450521-195450522	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538282864	chr1:195450535-195450536	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537986977	chr1:195450544-195450545	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
3	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
5	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:195450400-195451600	Enhancers	Ovary	ovary
8	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose
11	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:195546800-195547400	Enhancers	Ovary	ovary
32	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum

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