Variant report

Variant	esv2534255
Chromosome Location	chr1:170470684-170472338
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	chr1:170471056..170473540-chr1:170496173..170499009,2	K562	blood:
2	chr1:170471855..170474359-chr1:170499459..170501306,2	K562	blood:

Variant related genes	Relation type
ENSG00000231407	chromatin interactions
ENSG00000120370	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565724340	chr1:170470690-170470691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536245094	chr1:170470728-170470729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4325194	chr1:170470769-170470770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192264746	chr1:170470815-170470816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141474391	chr1:170470826-170470827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184514939	chr1:170470837-170470838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146977581	chr1:170470894-170470895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190785987	chr1:170470906-170470907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540977021	chr1:170470949-170470950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552852843	chr1:170470970-170470971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572311534	chr1:170470998-170470999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543024138	chr1:170471014-170471015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74815742	chr1:170471015-170471016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112790771	chr1:170471026-170471027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531860834	chr1:170471042-170471043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544015995	chr1:170471052-170471053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4402174	chr1:170471101-170471102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532851699	chr1:170471111-170471112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548060907	chr1:170471114-170471115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566383370	chr1:170471169-170471170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142184290	chr1:170471191-170471192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548187979	chr1:170471239-170471240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150102999	chr1:170471270-170471271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537191476	chr1:170471289-170471290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138451698	chr1:170471318-170471319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11584810	chr1:170471343-170471344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181939237	chr1:170471356-170471357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552814102	chr1:170471381-170471382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184484626	chr1:170471442-170471443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189054790	chr1:170471526-170471527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554982598	chr1:170471612-170471613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548241980	chr1:170471646-170471647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576448053	chr1:170471733-170471734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181248437	chr1:170471749-170471750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568485637	chr1:170471788-170471789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565379440	chr1:170471814-170471815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185605970	chr1:170471819-170471820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541658779	chr1:170471925-170471926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559765736	chr1:170471985-170471986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530461732	chr1:170471988-170471989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200256944	chr1:170472012-170472013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs2104918	chr1:170472013-170472014	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528756669	chr1:170472025-170472026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530430542	chr1:170472028-170472029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368945924	chr1:170472058-170472059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1970116	chr1:170472076-170472077	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532093198	chr1:170472077-170472078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534483737	chr1:170472089-170472090	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546418819	chr1:170472095-170472096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535442290	chr1:170472284-170472285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170464400-170471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:170469000-170470800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:170470800-170471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:170470800-170471000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:170470800-170471600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:170471000-170471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:170471000-170472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:170471200-170471400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:170471200-170471400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:170471200-170471400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:170471200-170471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:170471400-170472400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:170471400-170472400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:170471400-170472400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:170471400-170472400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:170471400-170472400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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