Variant report

Variant	esv3339917
Chromosome Location	chr1:46365465-46367463
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	chr1:46349975..46352089-chr1:46365133..46367847,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7548617	chr1:46365489-46365490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75793818	chr1:46365498-46365499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11211220	chr1:46365501-46365502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539129101	chr1:46365521-46365522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76875643	chr1:46365522-46365523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564436553	chr1:46365530-46365531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531773357	chr1:46365531-46365532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12120067	chr1:46365532-46365533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs188362208	chr1:46365565-46365566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181266424	chr1:46365566-46365567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370973624	chr1:46365694-46365695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547549498	chr1:46365709-46365710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565952752	chr1:46365713-46365714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551673027	chr1:46365746-46365747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376169526	chr1:46365758-46365759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369364436	chr1:46365765-46365766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537892814	chr1:46365781-46365782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555961995	chr1:46365791-46365792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574441885	chr1:46365820-46365821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541583215	chr1:46365837-46365838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527998382	chr1:46365844-46365845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372719013	chr1:46365845-46365846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs59051138	chr1:46365867-46365868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368232800	chr1:46365868-46365869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs57756307	chr1:46365873-46365874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146796161	chr1:46365993-46365994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572278808	chr1:46366013-46366014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140601200	chr1:46366025-46366026	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71653984	chr1:46366077-46366078	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564422065	chr1:46366118-46366119	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199804809	chr1:46366126-46366127	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200792572	chr1:46366127-46366128	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201776620	chr1:46366129-46366130	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113968402	chr1:46366149-46366150	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564437929	chr1:46366294-46366295	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374930436	chr1:46366383-46366384	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369676874	chr1:46366401-46366402	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199941586	chr1:46366436-46366437	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111928971	chr1:46366464-46366465	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145736063	chr1:46366481-46366482	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186832831	chr1:46366578-46366579	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79978857	chr1:46366599-46366600	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76307349	chr1:46366600-46366601	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189919314	chr1:46366617-46366618	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569836486	chr1:46366655-46366656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529358198	chr1:46366699-46366700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547486844	chr1:46366706-46366707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537337881	chr1:46366737-46366738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4660321	chr1:46366760-46366761	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs533389704	chr1:46366789-46366790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46342200-46391200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:46347400-46378400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:46349600-46369000	Weak transcription	Dnd41	blood
4	chr1:46350800-46378800	Weak transcription	K562	blood
5	chr1:46356400-46366200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:46357800-46376600	Weak transcription	Psoas Muscle	Psoas
7	chr1:46358000-46374400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:46358400-46378200	Weak transcription	Right Atrium	heart
9	chr1:46358600-46367200	Weak transcription	Liver	Liver
10	chr1:46358600-46367400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:46358600-46374400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:46358600-46377600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:46358600-46377600	Weak transcription	HSMM	muscle
14	chr1:46358800-46367000	Weak transcription	HepG2	liver
15	chr1:46359000-46365600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:46359200-46378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:46362800-46366000	Weak transcription	Fetal Heart	heart
18	chr1:46363000-46393800	Weak transcription	A549	lung
19	chr1:46364600-46372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:46365600-46367400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:46366000-46366600	Enhancers	Fetal Heart	heart
22	chr1:46366200-46369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:46366400-46366800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:46366600-46376200	Weak transcription	Fetal Heart	heart
25	chr1:46366800-46367800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:46367000-46367400	ZNF genes & repeats	HepG2	liver
27	chr1:46367400-46367800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr1:46367400-46379600	Weak transcription	HepG2	liver

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