Variant report

Variant	esv2762202
Chromosome Location	chr1:187037211-187055561
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:187033035..187034707-chr1:187036403..187039217,2	K562	blood:
2	chr1:187041298..187044019-chr1:187047433..187050031,3	K562	blood:
3	chr1:187044630..187047287-chr1:187049209..187050819,2	K562	blood:
4	chr1:187047122..187049731-chr1:187071325..187073626,2	K562	blood:
5	chr1:187044630..187047287-chr1:187049209..187050819,2	K562	blood:
6	chr1:186288084..186290169-chr1:187039090..187040938,2	K562	blood:
7	chr1:187041298..187044019-chr1:187047433..187050031,3	K562	blood:
8	chr1:187043744..187045422-chr1:187055243..187057785,2	K562	blood:
9	chr1:187036170..187037917-chr1:187039466..187042612,3	K562	blood:
10	chr1:187029599..187032219-chr1:187038739..187042577,4	K562	blood:
11	chr1:187036170..187037917-chr1:187039466..187042612,3	K562	blood:
12	chr1:187025789..187027854-chr1:187039505..187041153,2	K562	blood:
13	chr1:187043744..187045422-chr1:187055243..187057785,2	K562	blood:

No data

Extended variants
information (count: 318 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16826326	chr1:187037211-187037212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555397922	chr1:187037212-187037213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535182890	chr1:187037233-187037234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186276894	chr1:187037300-187037301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571740790	chr1:187037307-187037308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112801315	chr1:187037308-187037309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557059686	chr1:187037338-187037339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115127232	chr1:187037367-187037368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542554677	chr1:187037396-187037397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116682502	chr1:187037439-187037440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560897608	chr1:187037472-187037473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368354232	chr1:187037500-187037501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572811906	chr1:187037526-187037527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540006662	chr1:187037545-187037546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190845693	chr1:187037592-187037593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532056675	chr1:187037594-187037595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144017774	chr1:187037608-187037609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544330579	chr1:187037653-187037654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182993277	chr1:187037665-187037666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529742571	chr1:187037678-187037679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79728575	chr1:187037682-187037683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199500694	chr1:187037684-187037685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146261347	chr1:187037694-187037695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187289648	chr1:187037701-187037702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567924115	chr1:187037742-187037743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528814543	chr1:187037778-187037779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564830106	chr1:187037838-187037839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547191418	chr1:187037848-187037849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192843056	chr1:187037861-187037862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538748047	chr1:187037946-187037947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551101477	chr1:187037975-187037976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569254802	chr1:187037976-187037977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1297675	chr1:187038001-187038002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115836197	chr1:187038012-187038013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572775126	chr1:187038026-187038027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183321879	chr1:187038045-187038046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187814225	chr1:187038072-187038073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576669251	chr1:187038165-187038166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543970307	chr1:187038209-187038210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562559821	chr1:187038245-187038246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547624905	chr1:187038254-187038255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574459660	chr1:187038289-187038290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528111050	chr1:187038327-187038328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541778130	chr1:187038359-187038360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560215866	chr1:187038378-187038379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74135235	chr1:187038483-187038484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533467984	chr1:187038489-187038490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150675659	chr1:187038519-187038520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116556344	chr1:187038529-187038530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116544631	chr1:187038563-187038564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	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
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187017200-187039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:187036800-187039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:187038400-187039600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:187038600-187038800	Enhancers	Dnd41	blood
5	chr1:187038600-187039800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:187038600-187039800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:187038600-187040000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:187038800-187039600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:187038800-187041000	Weak transcription	Dnd41	blood
10	chr1:187039000-187039600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:187039200-187039400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:187039200-187039600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:187039200-187039600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:187039200-187039600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:187039200-187039800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:187039200-187040000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:187039400-187039800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:187039400-187041600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:187041000-187041400	Flanking Active TSS	Dnd41	blood
20	chr1:187041000-187041400	Enhancers	K562	blood
21	chr1:187041400-187042200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:187041400-187042400	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr1:187041400-187042400	Active TSS	Primary B cells from cord blood	blood
24	chr1:187041400-187042400	Active TSS	Primary hematopoietic stem cells	blood
25	chr1:187041400-187042400	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:187041400-187042400	Active TSS	Thymus	Thymus
27	chr1:187041400-187042600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:187041400-187042600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:187041400-187042600	Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:187041400-187042600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:187041400-187042600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr1:187041400-187042600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:187041400-187042600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr1:187041400-187042600	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:187041400-187042600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:187041400-187042600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:187041400-187042600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:187041400-187042600	Active TSS	Fetal Thymus	thymus
39	chr1:187041400-187042600	Active TSS	Dnd41	blood
40	chr1:187041400-187042600	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:187041600-187042000	Active TSS	Colonic Mucosa	Colon
42	chr1:187041600-187042000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:187041600-187042200	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr1:187041600-187042400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:187041600-187042600	Active TSS	Primary B cells from peripheral blood	blood
46	chr1:187041600-187042600	Active TSS	Primary T cells from cord blood	blood
47	chr1:187041600-187042600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:187041600-187042600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:187041600-187042600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:187041600-187042600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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