Variant report

Variant	esv3449310
Chromosome Location	chr1:184957379-184959427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184950860..184954322-chr1:184957875..184961127,3	K562	blood:
2	chr1:184957906..184960933-chr1:184961272..184965478,3	K562	blood:
3	chr1:184956014..184958781-chr1:185125319..185126900,2	MCF-7	breast:
4	chr1:184953868..184955710-chr1:184959365..184963156,3	K562	blood:
5	chr1:184955593..184958174-chr1:185284397..185286947,2	K562	blood:
6	chr1:184950055..184952828-chr1:184958189..184961127,3	K562	blood:

Variant related genes	Relation type
ENSG00000273004	chromatin interactions
ENSG00000116668	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000121486	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543789721	chr1:184957418-184957419	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs139315272	chr1:184957482-184957483	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs116938526	chr1:184957486-184957487	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs188712586	chr1:184957499-184957500	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs150005588	chr1:184957513-184957514	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs115261258	chr1:184957514-184957515	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs571701584	chr1:184957536-184957537	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs192643604	chr1:184957595-184957596	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs557365709	chr1:184957614-184957615	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs556472888	chr1:184957684-184957685	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs569278735	chr1:184957696-184957697	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs536903967	chr1:184957698-184957699	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574926591	chr1:184957705-184957706	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs555290045	chr1:184957709-184957710	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs573501951	chr1:184957713-184957714	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs534378758	chr1:184957724-184957725	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558919483	chr1:184957737-184957738	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs371850688	chr1:184957738-184957739	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs576838093	chr1:184957781-184957782	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs371722483	chr1:184957864-184957865	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543923551	chr1:184957890-184957891	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs146068764	chr1:184957900-184957901	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs113981797	chr1:184957928-184957929	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs117986209	chr1:184957992-184957993	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs374536084	chr1:184958013-184958014	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs560373407	chr1:184958054-184958055	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs527624030	chr1:184958056-184958057	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs185079530	chr1:184958075-184958076	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs80292638	chr1:184958105-184958106	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs12563438	chr1:184958119-184958120	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201280524	chr1:184958138-184958139	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs34505162	chr1:184958180-184958181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs71634122	chr1:184958211-184958212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189147067	chr1:184958213-184958214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536643304	chr1:184958218-184958219	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199513872	chr1:184958219-184958220	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376002579	chr1:184958220-184958221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28372070	chr1:184958241-184958242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575808260	chr1:184958323-184958324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183632078	chr1:184958371-184958372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189222531	chr1:184958382-184958383	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559079867	chr1:184958396-184958397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181923464	chr1:184958435-184958436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199580298	chr1:184958440-184958441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555838254	chr1:184958442-184958443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143946010	chr1:184958451-184958452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567886004	chr1:184958453-184958454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186684582	chr1:184958472-184958473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191986889	chr1:184958477-184958478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572279502	chr1:184958550-184958551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184951400-184959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:184956600-184957600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:184956600-184958000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:184956600-184958000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:184956800-184958000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:184956800-184958000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:184957200-184957400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:184957400-184957800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:184957600-184958000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:184957600-184958000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:184957600-184958000	Enhancers	Fetal Brain Male	brain
12	chr1:184957600-184958800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:184958000-184959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:184958000-184959200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:184959000-184959200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:184959000-184961600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:184959200-184959400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:184959400-184960000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:184959400-184960200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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