Variant report

Variant	esv3360131
Chromosome Location	chr1:179312265-179312830
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	chr1:179311628..179313681-chr1:179315946..179318351,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377426761	chr1:179312278-179312279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530664027	chr1:179312279-179312280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550393616	chr1:179312287-179312288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377301903	chr1:179312299-179312300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570102982	chr1:179312370-179312371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573165620	chr1:179312374-179312375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10798662	chr1:179312386-179312387	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566385829	chr1:179312394-179312395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182540168	chr1:179312413-179312414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548214841	chr1:179312438-179312439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187242853	chr1:179312448-179312449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537198365	chr1:179312517-179312518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557042047	chr1:179312521-179312522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576926023	chr1:179312523-179312524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200011694	chr1:179312524-179312525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12691483	chr1:179312525-179312526	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs13306726	chr1:179312527-179312528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397843980	chr1:179312533-179312534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374459818	chr1:179312552-179312553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13306728	chr1:179312559-179312560	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370151335	chr1:179312582-179312583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573125584	chr1:179312635-179312636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371092449	chr1:179312659-179312660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374491593	chr1:179312681-179312682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575315237	chr1:179312700-179312701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371684301	chr1:179312702-179312703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183829294	chr1:179312708-179312709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368883982	chr1:179312716-179312717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199681323	chr1:179312717-179312718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150082325	chr1:179312740-179312741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10753191	chr1:179312752-179312753	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs141826063	chr1:179312753-179312754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376707148	chr1:179312756-179312757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148129910	chr1:179312761-179312762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141948091	chr1:179312765-179312766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
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
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
Trisomy 5 syndrome	21098271	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
5	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
7	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:179280400-179314000	Weak transcription	NHLF	lung
9	chr1:179282000-179313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:179282400-179313800	Weak transcription	HSMMtube	muscle
11	chr1:179286400-179313800	Weak transcription	Psoas Muscle	Psoas
12	chr1:179290800-179314000	Weak transcription	NHEK	skin
13	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:179293000-179322600	Weak transcription	Fetal Heart	heart
15	chr1:179293600-179313800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:179293800-179314000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:179294200-179324600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:179295600-179314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
20	chr1:179297400-179313600	Weak transcription	Spleen	Spleen
21	chr1:179297400-179321600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:179298600-179324200	Weak transcription	Thymus	Thymus
23	chr1:179299400-179316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:179299600-179312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:179300200-179313800	Weak transcription	Primary B cells from cord blood	blood
26	chr1:179300200-179314800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:179300600-179322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:179301800-179322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:179303000-179314000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:179303200-179324600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:179303400-179322600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:179303600-179314200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:179304000-179313800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:179304200-179316000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:179304200-179316600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:179304200-179320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:179304200-179324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:179304200-179324400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:179304200-179324600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:179304200-179325200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:179304400-179318400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:179304400-179324400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:179304600-179316000	Strong transcription	Hela-S3	cervix
45	chr1:179304600-179324200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:179305200-179315800	Weak transcription	Brain Germinal Matrix	brain
47	chr1:179305200-179327200	Weak transcription	Right Ventricle	heart
48	chr1:179305400-179312400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:179305600-179313600	Weak transcription	Lung	lung
50	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea

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