Variant report

Variant	nsv521539
Chromosome Location	chr1:223628430-223641440
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	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
2	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
3	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
4	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
5	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
6	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
7	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
8	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
9	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
10	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:

No data

Extended variants
information (count: 418 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139536047	chr1:223628809-223628810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189542704	chr1:223628822-223628823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552060595	chr1:223628854-223628855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76146094	chr1:223628862-223628863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561146464	chr1:223628866-223628867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530688220	chr1:223628917-223628918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531372507	chr1:223628934-223628935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528307512	chr1:223629170-223629171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192192726	chr1:223629173-223629174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548478987	chr1:223629194-223629195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367867545	chr1:223631807-223631808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556820779	chr1:223631826-223631827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115019411	chr1:223631906-223631907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs11580512	chr1:223631912-223631913	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79912095	chr1:223631918-223631919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146999469	chr1:223631923-223631924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75149133	chr1:223631939-223631940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370512375	chr1:223631954-223631955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374819938	chr1:223632018-223632019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577144479	chr1:223632033-223632034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79050293	chr1:223632042-223632043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562343752	chr1:223632043-223632044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11261280	chr1:223632045-223632046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138206461	chr1:223632053-223632054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149549436	chr1:223632068-223632069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533416971	chr1:223632074-223632075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552095465	chr1:223632150-223632151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570277781	chr1:223632157-223632158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528391792	chr1:223632203-223632204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182348246	chr1:223632210-223632211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372390517	chr1:223632228-223632229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186741474	chr1:223632229-223632230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561885714	chr1:223632233-223632234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376667232	chr1:223632300-223632301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570588332	chr1:223632307-223632308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556870808	chr1:223632393-223632394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568871608	chr1:223632433-223632434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539488122	chr1:223632455-223632456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79803744	chr1:223632542-223632543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573508433	chr1:223632567-223632568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190062809	chr1:223632593-223632594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556133262	chr1:223632598-223632599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550874112	chr1:223632641-223632642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377562368	chr1:223632690-223632691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574270022	chr1:223632691-223632692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544281495	chr1:223632705-223632706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201959989	chr1:223632708-223632709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77979586	chr1:223632710-223632711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5781322	chr1:223632714-223632715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564505357	chr1:223632718-223632719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223628800-223629200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:223631800-223632000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr1:223632000-223633600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223633600-223634400	Enhancers	Stomach Smooth Muscle	stomach
5	chr1:223633800-223634400	Enhancers	Fetal Brain Male	brain
6	chr1:223634000-223635000	Enhancers	Pancreas	Pancrea
7	chr1:223634200-223634600	Enhancers	Gastric	stomach
8	chr1:223634200-223634600	Enhancers	Lung	lung
9	chr1:223634400-223634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:223634400-223635000	Enhancers	Fetal Brain Female	brain
11	chr1:223634400-223639000	Weak transcription	Fetal Brain Male	brain
12	chr1:223635000-223635400	Weak transcription	Fetal Brain Female	brain
13	chr1:223635000-223635400	Weak transcription	Pancreas	Pancrea
14	chr1:223635400-223635600	Enhancers	Pancreas	Pancrea
15	chr1:223635400-223636200	Enhancers	Fetal Brain Female	brain
16	chr1:223635600-223636000	Enhancers	Brain Germinal Matrix	brain
17	chr1:223635600-223642000	Weak transcription	Pancreas	Pancrea
18	chr1:223636000-223636400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:223636200-223639600	Weak transcription	Fetal Brain Female	brain
20	chr1:223636400-223636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:223636400-223636800	Enhancers	Stomach Mucosa	stomach
22	chr1:223637800-223639200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:223639000-223641800	Enhancers	Fetal Brain Male	brain
24	chr1:223639600-223640600	Enhancers	Fetal Brain Female	brain
25	chr1:223639800-223640000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr1:223639800-223640600	Enhancers	Ovary	ovary
27	chr1:223640000-223640400	Enhancers	Gastric	stomach
28	chr1:223640000-223640800	Enhancers	Esophagus	oesophagus
29	chr1:223640200-223640600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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