Variant report

Variant	esv1009176
Chromosome Location	chr1:67227876-67231940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67229958..67230621-chr1:67677554..67678086,2	MCF-7	breast:
2	chr1:67230464..67231736-chr1:67614522..67615465,5	K562	blood:
3	chr1:67230218..67231048-chr1:67461528..67462349,2	K562	blood:
4	chr1:67230851..67231401-chr1:67614599..67615362,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541938570	chr1:67227890-67227891	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532840751	chr1:67227914-67227915	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61441557	chr1:67227937-67227938	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560608230	chr1:67228013-67228014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149891669	chr1:67228028-67228029	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61782760	chr1:67228041-67228042	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549164241	chr1:67228049-67228050	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147591903	chr1:67228057-67228058	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180851932	chr1:67228070-67228071	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10437080	chr1:67228073-67228074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76589423	chr1:67228126-67228127	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12121275	chr1:67228135-67228136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560526797	chr1:67228170-67228171	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142110709	chr1:67228180-67228181	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552112565	chr1:67228189-67228190	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564143495	chr1:67228199-67228200	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187406053	chr1:67228322-67228323	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116942631	chr1:67228380-67228381	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192313229	chr1:67228419-67228420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145953072	chr1:67228471-67228472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75733883	chr1:67228477-67228478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148899231	chr1:67228482-67228483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545710331	chr1:67228503-67228504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7530545	chr1:67228504-67228505	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568145909	chr1:67228520-67228521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539936470	chr1:67228536-67228537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559770159	chr1:67228541-67228542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564266983	chr1:67228544-67228545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs59470667	chr1:67228575-67228576	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs28878898	chr1:67228590-67228591	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562726807	chr1:67228591-67228592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181950032	chr1:67228637-67228638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79883010	chr1:67228674-67228675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143611700	chr1:67228728-67228729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527735437	chr1:67228767-67228768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187032539	chr1:67228780-67228781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190528075	chr1:67228783-67228784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34810997	chr1:67228787-67228788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536772553	chr1:67228896-67228897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541541370	chr1:67228902-67228903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7530784	chr1:67228931-67228932	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs570264551	chr1:67228932-67228933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538953307	chr1:67228940-67228941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530157328	chr1:67229070-67229071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148079644	chr1:67229135-67229136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs59280098	chr1:67229139-67229140	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372895133	chr1:67229187-67229188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141841597	chr1:67229233-67229234	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs57776822	chr1:67229237-67229238	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553368468	chr1:67229270-67229271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67221600-67236400	Weak transcription	Liver	Liver
2	chr1:67222800-67236200	Weak transcription	Psoas Muscle	Psoas
3	chr1:67224400-67228400	Weak transcription	Fetal Heart	heart
4	chr1:67226200-67228400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:67226200-67231400	Weak transcription	K562	blood
6	chr1:67227200-67228000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:67227200-67228000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:67227400-67236400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:67227800-67229800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr1:67227800-67230000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:67228000-67229400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr1:67228000-67229800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:67228600-67230800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:67229400-67236400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:67229800-67230000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:67229800-67236200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:67230000-67230200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:67230000-67230200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:67230200-67230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:67230200-67231600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:67230400-67230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:67230600-67230800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:67230600-67231200	Enhancers	Dnd41	blood
24	chr1:67230800-67231200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:67230800-67231200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:67230800-67231200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:67230800-67231200	Active TSS	Brain Anterior Caudate	brain
28	chr1:67230800-67231200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:67230800-67231200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:67231000-67231200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:67231200-67233400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:67231200-67233400	Weak transcription	Dnd41	blood
33	chr1:67231200-67234400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:67231200-67234400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:67231400-67231600	Enhancers	K562	blood
36	chr1:67231600-67233200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:67231600-67240200	Weak transcription	K562	blood

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