Variant report

Variant	esv3389641
Chromosome Location	chr1:228217129-228221427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228215772..228218355-chr1:228221118..228222866,2	MCF-7	breast:
2	chr1:228216833..228219202-chr1:228268164..228269847,2	K562	blood:
3	chr1:228218670..228221362-chr1:228227720..228229463,2	K562	blood:
4	chr1:228203299..228204906-chr1:228214916..228217155,2	K562	blood:
5	chr1:228212897..228214729-chr1:228216543..228218611,2	K562	blood:
6	chr1:228215772..228218355-chr1:228221118..228222866,2	MCF-7	breast:
7	chr1:228219042..228220629-chr1:228263194..228265966,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576137302	chr1:228217167-228217168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536752175	chr1:228217177-228217178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185891605	chr1:228217214-228217215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35736508	chr1:228217217-228217218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565303182	chr1:228217250-228217251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191989575	chr1:228217324-228217325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541349589	chr1:228217336-228217337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141528959	chr1:228217337-228217338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576521100	chr1:228217340-228217341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6672422	chr1:228217361-228217362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574055370	chr1:228217387-228217388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563429974	chr1:228217408-228217409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370063221	chr1:228217417-228217418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368870095	chr1:228217441-228217442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561046418	chr1:228217442-228217443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373325420	chr1:228217443-228217444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187746214	chr1:228217444-228217445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541678732	chr1:228217445-228217446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547732059	chr1:228217446-228217447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192214249	chr1:228217448-228217449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536508366	chr1:228217449-228217450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554758294	chr1:228217450-228217451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375574099	chr1:228217451-228217452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576531787	chr1:228217453-228217454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537579443	chr1:228217472-228217473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6672601	chr1:228217498-228217499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80204653	chr1:228217521-228217522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541432337	chr1:228217542-228217543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574927625	chr1:228217567-228217568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553354463	chr1:228217618-228217619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116399845	chr1:228217652-228217653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542119898	chr1:228217686-228217687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377361553	chr1:228217736-228217737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370413326	chr1:228217781-228217782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34498453	chr1:228217787-228217788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398089937	chr1:228217793-228217794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563809972	chr1:228217822-228217823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563505684	chr1:228217833-228217834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530605347	chr1:228217875-228217876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545926571	chr1:228217886-228217887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564023992	chr1:228217888-228217889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377597827	chr1:228217920-228217921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528142990	chr1:228217927-228217928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112069582	chr1:228217957-228217958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567684643	chr1:228217966-228217967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532636572	chr1:228218004-228218005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182833094	chr1:228218045-228218046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570264605	chr1:228218078-228218079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552631588	chr1:228218111-228218112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2031135	chr1:228218116-228218117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228213400-228218600	Weak transcription	Right Atrium	heart
2	chr1:228217800-228218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:228218200-228219600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:228218600-228218800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:228218600-228218800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:228218600-228219800	Strong transcription	Right Atrium	heart
7	chr1:228218800-228219800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228219000-228220000	Enhancers	Esophagus	oesophagus
9	chr1:228219200-228219400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:228219200-228219400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:228219400-228219600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:228219800-228220000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:228219800-228225400	Weak transcription	Right Atrium	heart
14	chr1:228220000-228225200	Weak transcription	Esophagus	oesophagus

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