Variant report

Variant	esv3370350
Chromosome Location	chr1:186846479-186848527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12567822	chr1:186846482-186846483	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372463149	chr1:186846493-186846494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191638402	chr1:186846512-186846513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17591814	chr1:186846598-186846599	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs531799168	chr1:186846614-186846615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10752980	chr1:186846660-186846661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550303597	chr1:186846696-186846697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560763963	chr1:186846702-186846703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559411388	chr1:186846714-186846715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147974627	chr1:186846727-186846728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112997051	chr1:186846823-186846824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142349566	chr1:186846836-186846837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59521729	chr1:186846860-186846861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58954006	chr1:186846862-186846863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60352235	chr1:186846863-186846864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12730988	chr1:186846865-186846866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547652037	chr1:186847066-186847067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565861811	chr1:186847077-186847078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566695493	chr1:186847110-186847111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201808785	chr1:186847212-186847213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113854490	chr1:186847218-186847219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529492207	chr1:186847238-186847239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200398111	chr1:186847256-186847257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199552469	chr1:186847295-186847296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12141266	chr1:186847302-186847303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10708783	chr1:186847334-186847335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10752981	chr1:186847341-186847342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10737273	chr1:186847380-186847381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34606795	chr1:186847394-186847395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569522977	chr1:186847403-186847404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10911942	chr1:186847419-186847420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11371082	chr1:186847432-186847433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs66890063	chr1:186847433-186847434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536700437	chr1:186847444-186847445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555088088	chr1:186847455-186847456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374767801	chr1:186847457-186847458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375154685	chr1:186847484-186847485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377604866	chr1:186847489-186847490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182559078	chr1:186847503-186847504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17591849	chr1:186847574-186847575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372651091	chr1:186847586-186847587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552955350	chr1:186847671-186847672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572616474	chr1:186847701-186847702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546485889	chr1:186847726-186847727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187132234	chr1:186847755-186847756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576760023	chr1:186847905-186847906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35454348	chr1:186847933-186847934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543926363	chr1:186847959-186847960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531236711	chr1:186848020-186848021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2223308	chr1:186848028-186848029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186840400-186849200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:186841000-186853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:186841000-186853800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:186841600-186850200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:186841800-186846600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:186841800-186850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:186841800-186862400	Weak transcription	Hela-S3	cervix
9	chr1:186843000-186847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:186843400-186849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:186843400-186853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:186844200-186851600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:186844400-186850200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186844800-186846600	Enhancers	Adipose Nuclei	Adipose
15	chr1:186844800-186847000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:186844800-186848000	Enhancers	NHEK	skin
17	chr1:186845000-186846600	Enhancers	NHDF-Ad	bronchial
18	chr1:186845200-186851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:186845200-186856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:186845400-186846800	Enhancers	Colon Smooth Muscle	Colon
21	chr1:186846000-186846600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:186846000-186847600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:186846000-186848400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:186846200-186850000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:186846400-186847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186846400-186849200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:186846600-186847800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:186846600-186850200	Weak transcription	Adipose Nuclei	Adipose
29	chr1:186846600-186850200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:186846600-186851600	Weak transcription	NHDF-Ad	bronchial
31	chr1:186846800-186847800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:186847000-186848200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:186847600-186848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:186847600-186848000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:186847800-186848000	Enhancers	Colon Smooth Muscle	Colon
36	chr1:186847800-186849000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:186847800-186851200	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:186848000-186848600	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:186848000-186850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:186848000-186856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:186848200-186850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:186848400-186852600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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