Variant report

Variant	nsv1012279
Chromosome Location	chr1:215982058-216035558
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215997262..215998152-chr1:216394428..216395079,2	MCF-7	breast:
2	chr1:215997641..215998142-chr1:216394183..216395163,2	MCF-7	breast:
3	chr1:215996903..215999986-chr1:216001908..216004780,3	K562	blood:
4	chr1:216029161..216030804-chr1:216033493..216035714,2	K562	blood:
5	chr1:215997510..215998170-chr1:216923482..216924060,2	MCF-7	breast:
6	chr1:216029161..216030804-chr1:216033493..216035714,2	K562	blood:
7	chr1:215997259..215998053-chr1:216367425..216368023,3	MCF-7	breast:
8	chr1:215996903..215999986-chr1:216001908..216004780,3	K562	blood:
9	chr1:215997317..215998169-chr1:216483808..216484336,2	MCF-7	breast:
10	chr1:216011612..216013640-chr1:216049925..216052317,2	K562	blood:

No data

Extended variants
information (count: 1365 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10864203	chr1:215982612-215982613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145635550	chr1:215982632-215982633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116049403	chr1:215982665-215982666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9970162	chr1:215982681-215982682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185517092	chr1:215982727-215982728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5780854	chr1:215982798-215982799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558555784	chr1:215982799-215982800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397724480	chr1:215982808-215982809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532455891	chr1:215982809-215982810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189670361	chr1:215982812-215982813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562713431	chr1:215982881-215982882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574725537	chr1:215982884-215982885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532037445	chr1:215982917-215982918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138148720	chr1:215982931-215982932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544498251	chr1:215986403-215986404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375647439	chr1:215986420-215986421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559542129	chr1:215986421-215986422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149308373	chr1:215986462-215986463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75975662	chr1:215986480-215986481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571649898	chr1:215986524-215986525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185807673	chr1:215986602-215986603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550687590	chr1:215986677-215986678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567966844	chr1:215986698-215986699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536516840	chr1:215986734-215986735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553151643	chr1:215986786-215986787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573058469	chr1:215986905-215986906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144545837	chr1:215986921-215986922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557880530	chr1:215986963-215986964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138041430	chr1:215986968-215986969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543439308	chr1:215986969-215986970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73090717	chr1:215986990-215986991	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573987791	chr1:215987012-215987013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149259522	chr1:215987025-215987026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373965999	chr1:215987093-215987094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6660707	chr1:215987094-215987095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201909450	chr1:215987107-215987108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199798673	chr1:215987116-215987117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528342000	chr1:215987129-215987130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200038117	chr1:215987133-215987134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368240096	chr1:215987171-215987172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191115495	chr1:215987178-215987179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs397518049	chr1:215987181-215987182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200726531	chr1:215987203-215987204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530878261	chr1:215987208-215987209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113786363	chr1:215987213-215987214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4129843	chr1:215987222-215987223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144371939	chr1:215987226-215987227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139714378	chr1:215987232-215987233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149027999	chr1:215987234-215987235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9701736	chr1:215987247-215987248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215982600-215983000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:215986400-215987200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:215987200-216007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:215988200-215988600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:215992000-215993800	Enhancers	NHLF	lung
6	chr1:215992600-215993000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:215992600-215993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:215993000-215993400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:215993400-215997800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:215997800-215998200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:216002600-216003400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:216003200-216004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:216003400-216003600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:216003600-216004000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:216004000-216004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:216004200-216005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:216007200-216008000	Enhancers	NHLF	lung
18	chr1:216007200-216008200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:216007200-216009800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:216007400-216008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:216007400-216008800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:216007400-216009800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:216007600-216008000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:216007600-216008400	Enhancers	Osteobl	bone
25	chr1:216007600-216009200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:216007800-216008000	Enhancers	NHDF-Ad	bronchial
27	chr1:216007800-216008200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:216007800-216009000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:216007800-216009200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:216007800-216009600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:216008000-216008800	Weak transcription	NHLF	lung
32	chr1:216008000-216009000	Weak transcription	NHDF-Ad	bronchial
33	chr1:216008000-216014600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:216008200-216008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:216008400-216018000	Weak transcription	Osteobl	bone
36	chr1:216008600-216009000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:216008600-216009600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:216008800-216009400	Enhancers	NHLF	lung
39	chr1:216009000-216009800	Enhancers	NHDF-Ad	bronchial
40	chr1:216009600-216010800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:216010800-216011000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:216016400-216016600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:216016600-216018000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:216016600-216018600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:216017400-216017600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:216017400-216017600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:216017400-216018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:216017400-216019800	Enhancers	NHLF	lung
49	chr1:216017600-216018000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:216017600-216018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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