Variant report

Variant	nsv945304
Chromosome Location	chr1:222114347-222131255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222117033..222118871-chr1:222121087..222123565,2	K562	blood:
2	chr1:222117033..222118871-chr1:222121087..222123565,2	K562	blood:

Extended variants
information (count: 677 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548744872	chr1:222114354-222114355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73120739	chr1:222114425-222114426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537797277	chr1:222114450-222114451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549914495	chr1:222114496-222114497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571331912	chr1:222114516-222114517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538863525	chr1:222114554-222114555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553914834	chr1:222114560-222114561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186617555	chr1:222114583-222114584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536540987	chr1:222114629-222114630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554520807	chr1:222114640-222114641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576393945	chr1:222114652-222114653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151147315	chr1:222114662-222114663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565059189	chr1:222114663-222114664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373005600	chr1:222114668-222114669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576907045	chr1:222114671-222114672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541263280	chr1:222114693-222114694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2800854	chr1:222114702-222114703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560337631	chr1:222114715-222114716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151088898	chr1:222114740-222114741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116772046	chr1:222114755-222114756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530373137	chr1:222114781-222114782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542651437	chr1:222114825-222114826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371084088	chr1:222114905-222114906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189407903	chr1:222114908-222114909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565371031	chr1:222114944-222114945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181929460	chr1:222114945-222114946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114512963	chr1:222114999-222115000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116532470	chr1:222115076-222115077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549777479	chr1:222115097-222115098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377596434	chr1:222115150-222115151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369478179	chr1:222115183-222115184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186272823	chr1:222115282-222115283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370105006	chr1:222115353-222115354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141082114	chr1:222115364-222115365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146958448	chr1:222115370-222115371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536019415	chr1:222115382-222115383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138010958	chr1:222115398-222115399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575902525	chr1:222115401-222115402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142211913	chr1:222115419-222115420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75762695	chr1:222115506-222115507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116083177	chr1:222115522-222115523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78599853	chr1:222115571-222115572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117212151	chr1:222115608-222115609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574989008	chr1:222115662-222115663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74145035	chr1:222115684-222115685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35139599	chr1:222115812-222115813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79993876	chr1:222115824-222115825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74801038	chr1:222115893-222115894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543482489	chr1:222115990-222115991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371532245	chr1:222116005-222116006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
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
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222095400-222117800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:222098000-222118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:222111800-222114400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:222112000-222114400	Enhancers	Primary B cells from cord blood	blood
5	chr1:222112200-222114600	Enhancers	Fetal Brain Male	brain
6	chr1:222112200-222114600	Enhancers	GM12878-XiMat	blood
7	chr1:222114200-222118600	Weak transcription	HSMM	muscle
8	chr1:222114600-222115600	Weak transcription	Fetal Brain Male	brain
9	chr1:222115000-222115600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:222115400-222131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:222115600-222116000	Enhancers	Fetal Brain Male	brain
12	chr1:222117800-222120400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:222118200-222118800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:222118600-222118800	ZNF genes & repeats	HSMM	muscle
15	chr1:222118800-222119000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:222118800-222120200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:222118800-222123000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:222119000-222120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:222119800-222120400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:222119800-222120600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:222120400-222121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:222120400-222121200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:222120400-222121400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:222120600-222121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:222121000-222121800	Enhancers	NHEK	skin
26	chr1:222121000-222122800	Enhancers	HMEC	breast
27	chr1:222121200-222121400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:222121200-222121400	Enhancers	Hela-S3	cervix
29	chr1:222121200-222121600	Enhancers	Dnd41	blood
30	chr1:222121200-222122000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:222121200-222122200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:222121200-222122200	Enhancers	HSMM	muscle
33	chr1:222121200-222123400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:222121400-222121800	Flanking Active TSS	Hela-S3	cervix
35	chr1:222121400-222122000	Enhancers	Esophagus	oesophagus
36	chr1:222121400-222122200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:222121800-222122000	Enhancers	Hela-S3	cervix
38	chr1:222121800-222123800	Enhancers	Adipose Nuclei	Adipose
39	chr1:222122000-222123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:222122200-222123000	Weak transcription	HSMM	muscle
41	chr1:222122200-222123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:222122800-222125400	ZNF genes & repeats	HMEC	breast
43	chr1:222123000-222123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:222123000-222123200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:222123000-222123400	Enhancers	HSMMtube	muscle
46	chr1:222123000-222123800	Enhancers	HSMM	muscle
47	chr1:222123000-222124000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:222123400-222123800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:222123400-222129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:222123800-222131200	Weak transcription	HSMM	muscle

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