Variant report

Variant	nsv947159
Chromosome Location	chr1:215645387-215673199
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215655508..215656065-chr1:215718108..215718963,2	MCF-7	breast:
2	chr1:215646701..215647850-chr1:215655247..215656051,5	MCF-7	breast:
3	chr1:215670287..215672769-chr1:215675480..215677186,2	MCF-7	breast:
4	chr1:215598452..215599119-chr1:215662801..215663769,2	MCF-7	breast:
5	chr1:215652527..215655000-chr1:215655463..215657420,3	MCF-7	breast:
6	chr1:215649219..215651138-chr1:215654320..215656307,2	MCF-7	breast:
7	chr1:215646701..215647850-chr1:215655247..215656051,5	MCF-7	breast:
8	chr1:215598275..215599042-chr1:215647338..215647850,2	MCF-7	breast:
9	chr1:215649219..215651138-chr1:215654320..215656307,2	MCF-7	breast:
10	chr1:215646701..215647818-chr1:215655247..215656051,4	MCF-7	breast:
11	chr1:215660646..215662869-chr1:215670952..215673694,2	MCF-7	breast:
12	chr1:215646817..215649143-chr1:215661987..215663671,2	MCF-7	breast:
13	chr1:215647301..215647833-chr1:215663192..215664017,2	MCF-7	breast:
14	chr1:215598355..215599119-chr1:215661939..215663301,3	MCF-7	breast:
15	chr1:215598230..215599139-chr1:215655112..215656019,6	MCF-7	breast:
16	chr1:215641789..215644876-chr1:215645316..215648235,3	K562	blood:
17	chr1:215667479..215669365-chr1:215673688..215676316,2	MCF-7	breast:
18	chr1:215649830..215650771-chr1:215662339..215662875,2	MCF-7	breast:
19	chr1:215663590..215665817-chr1:215673540..215675188,2	MCF-7	breast:
20	chr1:215645440..215647544-chr1:215658602..215661519,2	MCF-7	breast:
21	chr1:215653919..215659650-chr1:215659919..215663792,9	MCF-7	breast:
22	chr1:215531029..215532667-chr1:215653579..215655433,2	K562	blood:
23	chr1:215598218..215599156-chr1:215655034..215656217,14	MCF-7	breast:
24	chr1:215652527..215655000-chr1:215655463..215657420,3	MCF-7	breast:
25	chr1:215649830..215650771-chr1:215662339..215662875,2	MCF-7	breast:
26	chr1:215656949..215659189-chr1:215661543..215664424,2	K562	blood:
27	chr1:215647301..215647833-chr1:215663192..215664017,2	MCF-7	breast:
28	chr1:215660646..215662869-chr1:215670952..215673694,2	MCF-7	breast:
29	chr1:215646817..215649143-chr1:215661987..215663671,2	MCF-7	breast:
30	chr1:215645440..215647544-chr1:215658602..215661519,2	MCF-7	breast:
31	chr1:215646701..215647818-chr1:215655247..215656051,4	MCF-7	breast:
32	chr1:215653919..215659650-chr1:215659919..215663792,9	MCF-7	breast:
33	chr1:215656949..215659189-chr1:215661543..215664424,2	K562	blood:
34	chr1:215598325..215599086-chr1:215646834..215647759,3	MCF-7	breast:
35	chr1:215598617..215599182-chr1:215655318..215656103,2	MCF-7	breast:

No data

Extended variants
information (count: 1039 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545178387	chr1:215645420-215645421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565236288	chr1:215645487-215645488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117961372	chr1:215645508-215645509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544469185	chr1:215645511-215645512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561231721	chr1:215645516-215645517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6540898	chr1:215645533-215645534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182072736	chr1:215645539-215645540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560564688	chr1:215645549-215645550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529304749	chr1:215645558-215645559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187626942	chr1:215645604-215645605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551192291	chr1:215645622-215645623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140479519	chr1:215645710-215645711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537061613	chr1:215645729-215645730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550621644	chr1:215645730-215645731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549325252	chr1:215645757-215645758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536589564	chr1:215645790-215645791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191498658	chr1:215645821-215645822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553089905	chr1:215645842-215645843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566550483	chr1:215645852-215645853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78724762	chr1:215645860-215645861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375675765	chr1:215645864-215645865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145146931	chr1:215645865-215645866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575727656	chr1:215645877-215645878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544178882	chr1:215645931-215645932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11120588	chr1:215645953-215645954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141214603	chr1:215646006-215646007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181675270	chr1:215646065-215646066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369453801	chr1:215646094-215646095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560692001	chr1:215646103-215646104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532620623	chr1:215646109-215646110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186147133	chr1:215646144-215646145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190072568	chr1:215646190-215646191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76153888	chr1:215646246-215646247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80104912	chr1:215646286-215646287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567278040	chr1:215646311-215646312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570361405	chr1:215646342-215646343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144923679	chr1:215646344-215646345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546599692	chr1:215646364-215646365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539226202	chr1:215646417-215646418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182688506	chr1:215646433-215646434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78576122	chr1:215646491-215646492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566529018	chr1:215646583-215646584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186781935	chr1:215646589-215646590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537097117	chr1:215646606-215646607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535129827	chr1:215646611-215646612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138751047	chr1:215646664-215646665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74466594	chr1:215646696-215646697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554503046	chr1:215646713-215646714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138607773	chr1:215646762-215646763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574496952	chr1:215646776-215646777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215643200-215647000	Weak transcription	HSMM	muscle
2	chr1:215645000-215646200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:215645800-215646000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:215646200-215646400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:215646400-215646800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:215646800-215649000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:215646800-215650000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:215647000-215649000	Enhancers	HSMMtube	muscle
9	chr1:215647000-215649000	Enhancers	Osteobl	bone
10	chr1:215647000-215650400	Enhancers	HSMM	muscle
11	chr1:215647200-215647400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:215647200-215647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:215647200-215647800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:215647200-215649400	Enhancers	NHDF-Ad	bronchial
15	chr1:215647200-215650000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:215647600-215649800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:215647600-215650200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:215647800-215648200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:215647800-215651000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:215648200-215650000	Enhancers	NHLF	lung
21	chr1:215648200-215650200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:215648400-215648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:215648400-215648800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:215648400-215650000	Enhancers	NH-A	brain
25	chr1:215648400-215650200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:215648400-215650400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:215648400-215650400	Enhancers	HMEC	breast
28	chr1:215648400-215650400	Enhancers	NHEK	skin
29	chr1:215648400-215650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:215648600-215650000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:215648800-215650600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:215648800-215663200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:215649000-215649200	Flanking Active TSS	HSMMtube	muscle
34	chr1:215649000-215649200	Flanking Active TSS	Osteobl	bone
35	chr1:215649000-215649800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:215649200-215649400	Enhancers	Osteobl	bone
37	chr1:215649200-215651200	Enhancers	HSMMtube	muscle
38	chr1:215649400-215649600	Flanking Active TSS	Osteobl	bone
39	chr1:215649400-215650000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr1:215649600-215650200	Enhancers	Osteobl	bone
41	chr1:215649800-215650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:215649800-215650200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:215650000-215650200	Enhancers	NHDF-Ad	bronchial
44	chr1:215650000-215656000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:215650200-215650400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:215650200-215651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:215650400-215650600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:215650400-215650600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:215650600-215650800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:215650600-215651200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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