Variant report

Variant	esv3321210
Chromosome Location	chr1:221804864-221805923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221796853..221799053-chr1:221805880..221808710,2	K562	blood:
2	chr1:221804697..221805537-chr1:222182197..222182723,2	MCF-7	breast:
3	chr1:221804015..221806371-chr1:221811621..221813998,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554440206	chr1:221804868-221804869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539484952	chr1:221804900-221804901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533760566	chr1:221804905-221804906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80348730	chr1:221804954-221804955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35485522	chr1:221804970-221804971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12057339	chr1:221804973-221804974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534219707	chr1:221804974-221804975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368784662	chr1:221804981-221804982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553300344	chr1:221805029-221805030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573481353	chr1:221805046-221805047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79389257	chr1:221805058-221805059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577902567	chr1:221805107-221805108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115568201	chr1:221805113-221805114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560371074	chr1:221805126-221805127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527716015	chr1:221805136-221805137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549321611	chr1:221805159-221805160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76848037	chr1:221805161-221805162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561066300	chr1:221805270-221805271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138890614	chr1:221805276-221805277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549974346	chr1:221805321-221805322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371799553	chr1:221805324-221805325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375945659	chr1:221805353-221805354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534731062	chr1:221805354-221805355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142031239	chr1:221805406-221805407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370157521	chr1:221805417-221805418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539222969	chr1:221805425-221805426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375832644	chr1:221805429-221805430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566348761	chr1:221805450-221805451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181970764	chr1:221805454-221805455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575835330	chr1:221805479-221805480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367841739	chr1:221805529-221805530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146378685	chr1:221805530-221805531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185203778	chr1:221805550-221805551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139654049	chr1:221805593-221805594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555964529	chr1:221805603-221805604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75823013	chr1:221805617-221805618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556289896	chr1:221805620-221805621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577939664	chr1:221805650-221805651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189574352	chr1:221805681-221805682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560200194	chr1:221805752-221805753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572273699	chr1:221805775-221805776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74145400	chr1:221805797-221805798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181225711	chr1:221805801-221805802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186746675	chr1:221805802-221805803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549911290	chr1:221805810-221805811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143072388	chr1:221805854-221805855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76452238	chr1:221805890-221805891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532631102	chr1:221805891-221805892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113496380	chr1:221805916-221805917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221803800-221806000	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:221804200-221805600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:221804400-221805000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:221804400-221805200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:221804400-221806200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:221804600-221805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:221804600-221805000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:221804600-221805000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:221804600-221805000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:221804600-221805200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:221804600-221805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:221804600-221806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221804600-221806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:221804600-221806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:221804800-221805000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:221804800-221806000	Enhancers	Fetal Heart	heart
17	chr1:221804800-221807600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:221804800-221807600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:221805200-221805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:221805600-221805800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:221805600-221805800	Enhancers	K562	blood
22	chr1:221805800-221806000	Enhancers	HUES6 Cell Line	embryonic stem cell

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