Variant report

Variant	nsv872919
Chromosome Location	chr1:195335517-195459410
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
2	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
3	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
4	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
5	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
6	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
7	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
8	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
9	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
10	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
11	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
12	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
13	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
14	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
15	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
16	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
17	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:

(count:2 , 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

No data

Extended variants
information (count: 798 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10921840	chr1:195335517-195335518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541282910	chr1:195335518-195335519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559932735	chr1:195335546-195335547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7523103	chr1:195340871-195340872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs370190727	chr1:195340879-195340880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184034506	chr1:195340911-195340912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188959829	chr1:195340979-195340980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376115006	chr1:195341040-195341041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79221326	chr1:195341047-195341048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531931349	chr1:195341087-195341088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73060226	chr1:195341107-195341108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568887567	chr1:195341125-195341126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77087930	chr1:195341134-195341135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557701436	chr1:195341175-195341176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566330877	chr1:195341190-195341191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566348602	chr1:195345606-195345607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188535797	chr1:195345622-195345623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569392431	chr1:195345624-195345625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145978419	chr1:195345671-195345672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558373294	chr1:195345704-195345705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536960777	chr1:195345732-195345733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570501304	chr1:195345749-195345750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552313157	chr1:195345756-195345757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138578534	chr1:195345792-195345793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553040543	chr1:195345815-195345816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180890681	chr1:195345817-195345818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555160851	chr1:195345829-195345830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73060229	chr1:195345846-195345847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149261838	chr1:195345870-195345871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575346947	chr1:195345927-195345928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545950332	chr1:195345933-195345934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368193516	chr1:195345945-195345946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34905214	chr1:195345969-195345970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144453196	chr1:195345981-195345982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148390342	chr1:195345982-195345983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145200910	chr1:195348019-195348020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17668242	chr1:195348144-195348145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149135990	chr1:195348169-195348170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548853872	chr1:195348182-195348183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567497299	chr1:195348207-195348208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537593541	chr1:195348275-195348276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556636049	chr1:195348282-195348283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571625321	chr1:195348340-195348341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539115690	chr1:195348380-195348381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79661106	chr1:195354200-195354201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12138750	chr1:195354271-195354272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370235998	chr1:195354295-195354296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145782028	chr1:195354322-195354323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374622626	chr1:195354353-195354354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12743035	chr1:195354355-195354356	Enhancers	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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195334200-195335600	Enhancers	Dnd41	blood
2	chr1:195334400-195335600	Enhancers	Primary T cells from cord blood	blood
3	chr1:195340800-195341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:195345600-195346000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:195348000-195348400	Enhancers	Fetal Lung	lung
6	chr1:195354200-195354800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:195363000-195363400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:195363200-195364400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:195363800-195364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:195364400-195367200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:195367200-195367600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:195383400-195383800	Bivalent Enhancer	Aorta	Aorta
13	chr1:195403800-195404200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:195403800-195404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:195408200-195408400	Enhancers	Adipose Nuclei	Adipose
16	chr1:195408400-195409000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:195409000-195409400	Enhancers	Adipose Nuclei	Adipose
18	chr1:195414000-195414400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:195416000-195418600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:195416600-195417000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:195419800-195420200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:195419800-195421200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:195419800-195421400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:195420000-195421200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:195420000-195421800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:195420000-195422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:195420200-195422000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:195420600-195421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:195427000-195427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:195427200-195427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:195428000-195428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:195431600-195432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:195431800-195432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:195439800-195440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:195441200-195441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:195441200-195441800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:195441400-195441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:195441400-195441800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:195441600-195442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
42	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
44	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:195450400-195451600	Enhancers	Ovary	ovary
47	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose

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