Variant report

Variant	nsv947161
Chromosome Location	chr1:221967491-221977571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221975290..221977645-chr1:221996464..221998396,2	MCF-7	breast:
2	chr1:221976813..221979723-chr1:221979739..221981450,2	MCF-7	breast:
3	chr1:221959363..221962341-chr1:221966236..221967931,2	K562	blood:
4	chr1:221970090..221972076-chr1:221974021..221976079,2	MCF-7	breast:
5	chr1:221970090..221972076-chr1:221974021..221976079,2	MCF-7	breast:
6	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:

Extended variants
information (count: 380 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529437019	chr1:221967509-221967510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149058310	chr1:221967529-221967530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562362761	chr1:221967533-221967534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77826161	chr1:221967575-221967576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186840882	chr1:221967591-221967592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201926719	chr1:221967593-221967594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71996314	chr1:221967594-221967595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368694888	chr1:221967619-221967620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76978220	chr1:221967625-221967626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191997713	chr1:221967654-221967655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531551972	chr1:221967660-221967661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570562591	chr1:221967665-221967666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34054152	chr1:221967683-221967684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183865615	chr1:221967707-221967708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188756740	chr1:221967747-221967748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189873754	chr1:221967776-221967777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548442643	chr1:221967782-221967783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535492031	chr1:221967794-221967795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4846724	chr1:221967817-221967818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs575207331	chr1:221967855-221967856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545910096	chr1:221967863-221967864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4846725	chr1:221967865-221967866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573363233	chr1:221967917-221967918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540820988	chr1:221967921-221967922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562276223	chr1:221967945-221967946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144820630	chr1:221967968-221967969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544888465	chr1:221967971-221967972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563296615	chr1:221967989-221967990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530472475	chr1:221967995-221967996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373663861	chr1:221968008-221968009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182147519	chr1:221968035-221968036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73112668	chr1:221968036-221968037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4846726	chr1:221968062-221968063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552804810	chr1:221968066-221968067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372572487	chr1:221968101-221968102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535376060	chr1:221968107-221968108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112241030	chr1:221968129-221968130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187101523	chr1:221968144-221968145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35523618	chr1:221968150-221968151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12089785	chr1:221968224-221968225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558008692	chr1:221968286-221968287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191553487	chr1:221968302-221968303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368204803	chr1:221968332-221968333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61823536	chr1:221968342-221968343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540506831	chr1:221968361-221968362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72738455	chr1:221968374-221968375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555945827	chr1:221968391-221968392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574126239	chr1:221968398-221968399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543177371	chr1:221968408-221968409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544925429	chr1:221968420-221968421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221960400-221970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:221964600-221969200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:221966400-221967800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:221966400-221968200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:221966600-221967600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:221966600-221967600	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:221966600-221967800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:221966600-221967800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:221966600-221967800	Enhancers	NH-A	brain
10	chr1:221966600-221967800	Enhancers	Osteobl	bone
11	chr1:221966600-221968200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:221966800-221967600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:221966800-221967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:221966800-221968200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:221967000-221968600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:221967200-221967600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:221967200-221967800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:221967200-221968000	Enhancers	HMEC	breast
19	chr1:221967200-221968200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:221967200-221968400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:221967200-221968600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:221967600-221968400	Enhancers	Primary B cells from cord blood	blood
24	chr1:221967600-221969000	Enhancers	GM12878-XiMat	blood
25	chr1:221967800-221968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:221967800-221970600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:221968000-221970400	Weak transcription	HMEC	breast
28	chr1:221968000-221974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:221968400-221972800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:221968600-221974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:221970000-221970400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:221970400-221971200	Enhancers	HMEC	breast
33	chr1:221970600-221971200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:221970800-221971200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:221970800-221971200	Enhancers	NHEK	skin
36	chr1:221971200-221975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:221971800-221972000	Enhancers	Colon Smooth Muscle	Colon
38	chr1:221972800-221973400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:221972800-221973400	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr1:221973400-221974600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:221973400-221979800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:221973600-221975400	Enhancers	Dnd41	blood
43	chr1:221973800-221974800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:221974200-221974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:221974200-221974400	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:221974200-221974800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:221974200-221974800	Enhancers	Fetal Thymus	thymus
48	chr1:221974200-221974800	Enhancers	Thymus	Thymus
49	chr1:221974200-221976000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:221974200-221976000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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