Variant report

Variant	esv16577
Chromosome Location	chr10:42532988-42546570
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	chr1:121482971..121485434-chr10:42543133..42544641,3	MCF-7	breast:

Extended variants
information (count: 2156 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2156 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550706945	chr10:42532992-42532993	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570554432	chr10:42532995-42532996	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539117522	chr10:42532997-42532998	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552663536	chr10:42532998-42532999	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572484717	chr10:42532999-42533000	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74356660	chr10:42533000-42533001	ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77852937	chr10:42533001-42533002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111824897	chr10:42533016-42533017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543763537	chr10:42533019-42533020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563877976	chr10:42533022-42533023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201346565	chr10:42533023-42533024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77519403	chr10:42533027-42533028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77748553	chr10:42533029-42533030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78362686	chr10:42533031-42533032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74715098	chr10:42533032-42533033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577530468	chr10:42533033-42533034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75484469	chr10:42533034-42533035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs78925097	chr10:42533036-42533037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12778733	chr10:42533044-42533045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201961635	chr10:42533045-42533046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12773524	chr10:42533046-42533047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559913690	chr10:42533050-42533051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112617554	chr10:42533058-42533059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71502197	chr10:42533059-42533060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12783241	chr10:42533060-42533061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76272250	chr10:42533061-42533062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530783396	chr10:42533065-42533066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550620669	chr10:42533066-42533067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570589605	chr10:42533071-42533072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370697530	chr10:42533072-42533073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573551357	chr10:42533073-42533074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546288072	chr10:42533077-42533078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78826215	chr10:42533079-42533080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532504822	chr10:42533081-42533082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201461640	chr10:42533086-42533087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs367906713	chr10:42533088-42533089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370248042	chr10:42533092-42533093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78990568	chr10:42533098-42533099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562082353	chr10:42533099-42533100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575536963	chr10:42533102-42533103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs12765001	chr10:42533103-42533104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544723747	chr10:42533104-42533105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs71476307	chr10:42533105-42533106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76292850	chr10:42533106-42533107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537716862	chr10:42533107-42533108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76501875	chr10:42533109-42533110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77056205	chr10:42533110-42533111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374140844	chr10:42533111-42533112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79402940	chr10:42533112-42533113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs80289590	chr10:42533114-42533115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42525400-42533200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42525800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:42526800-42533000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr10:42527000-42533000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr10:42527000-42533000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:42527000-42533000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:42527000-42533000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr10:42527000-42533000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr10:42527000-42533000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr10:42527000-42533000	ZNF genes & repeats	Liver	Liver
13	chr10:42527000-42533000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr10:42527000-42533000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr10:42527000-42533000	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr10:42527000-42533000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr10:42527000-42533200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr10:42527000-42533200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr10:42527000-42533200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:42527200-42533000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr10:42527200-42533000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:42527200-42533000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:42527200-42533000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr10:42527200-42533000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr10:42527200-42533000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr10:42527200-42533000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr10:42527200-42533000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:42527200-42533000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr10:42527200-42533000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr10:42527200-42533000	ZNF genes & repeats	Left Ventricle	heart
32	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr10:42527200-42533000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr10:42527200-42533400	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr10:42527200-42533600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr10:42528800-42533000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:42528800-42533000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr10:42528800-42533000	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr10:42528800-42533000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr10:42528800-42533000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr10:42528800-42533000	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr10:42528800-42533000	ZNF genes & repeats	Fetal Lung	lung
44	chr10:42528800-42533000	ZNF genes & repeats	A549	lung
45	chr10:42528800-42533000	ZNF genes & repeats	Dnd41	blood
46	chr10:42528800-42533000	ZNF genes & repeats	HMEC	breast
47	chr10:42528800-42533200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr10:42529000-42533000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:42529000-42533000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr10:42529000-42533000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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