Variant report

Variant	nsv550075
Chromosome Location	chr10:18846155-18861203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 962 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568209938	chr10:18846161-18846162	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535285843	chr10:18846181-18846182	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7071192	chr10:18846206-18846207	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs565670244	chr10:18846218-18846219	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533925836	chr10:18846228-18846229	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558958040	chr10:18846235-18846236	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185807991	chr10:18846242-18846243	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544656263	chr10:18846246-18846247	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556399019	chr10:18846247-18846248	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541661473	chr10:18846262-18846263	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575058899	chr10:18846267-18846268	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7080903	chr10:18846312-18846313	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142170779	chr10:18846330-18846331	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575178071	chr10:18846339-18846340	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528036934	chr10:18846341-18846342	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546181361	chr10:18846366-18846367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114564494	chr10:18846396-18846397	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531222362	chr10:18846410-18846411	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549817949	chr10:18846417-18846418	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567840141	chr10:18846439-18846440	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201833073	chr10:18846442-18846443	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552148698	chr10:18846450-18846451	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529036348	chr10:18846455-18846456	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192374772	chr10:18846469-18846470	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565637080	chr10:18846478-18846479	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539303255	chr10:18846481-18846482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140390490	chr10:18846485-18846486	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150386464	chr10:18846494-18846495	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537875372	chr10:18846504-18846505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183487029	chr10:18846511-18846512	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116919605	chr10:18846521-18846522	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536048157	chr10:18846530-18846531	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554358991	chr10:18846531-18846532	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117539117	chr10:18846543-18846544	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546442764	chr10:18846544-18846545	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187832116	chr10:18846547-18846548	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575967133	chr10:18846574-18846575	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7101269	chr10:18846578-18846579	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561436195	chr10:18846584-18846585	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529004347	chr10:18846589-18846590	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200032530	chr10:18846627-18846628	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192314501	chr10:18846628-18846629	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540291570	chr10:18846629-18846630	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559084449	chr10:18846652-18846653	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532999053	chr10:18846686-18846687	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183027102	chr10:18846690-18846691	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569880301	chr10:18846702-18846703	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138093470	chr10:18846706-18846707	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144361020	chr10:18846707-18846708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538224776	chr10:18846718-18846719	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr10:18824200-18850600	Weak transcription	NHLF	lung
4	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
5	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
6	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:18830600-18846600	Weak transcription	NH-A	brain
8	chr10:18831000-18850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:18834400-18847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:18838800-18849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr10:18840400-18847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:18840600-18851200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr10:18840800-18851000	Weak transcription	Psoas Muscle	Psoas
14	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
15	chr10:18841400-18848800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr10:18841600-18849600	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr10:18841600-18849800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr10:18841600-18850000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr10:18841600-18850000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:18841600-18850000	ZNF genes & repeats	Fetal Lung	lung
21	chr10:18841600-18851400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr10:18841600-18851800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr10:18841600-18854600	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr10:18841600-18856200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr10:18841800-18847000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr10:18841800-18849600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr10:18841800-18849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:18841800-18850000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr10:18841800-18850000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr10:18841800-18850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr10:18841800-18853000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr10:18841800-18855400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:18842000-18846200	Weak transcription	Gastric	stomach
34	chr10:18842000-18847800	Weak transcription	Stomach Mucosa	stomach
35	chr10:18842000-18848600	Weak transcription	Placenta	Placenta
36	chr10:18842000-18849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:18842000-18849200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr10:18842000-18850000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:18842000-18851400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:18842000-18853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:18842000-18866800	Weak transcription	Left Ventricle	heart
42	chr10:18842000-18868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:18842000-18869200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr10:18842000-18886400	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:18842200-18847200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:18842400-18846600	ZNF genes & repeats	HepG2	liver
47	chr10:18842600-18847200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr10:18842600-18849400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:18842600-18849800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr10:18842600-18850000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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