Variant report

Variant	esv9418
Chromosome Location	chr10:42387924-42393617
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	chr1:115646794..115647295-chr10:42392648..42393148,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-12	chr10:42389851-42389943	NONHSAT012847
2	lnc-BMS1-12	chr10:42391195-42391205	NONHSAT012847

Extended variants
information (count: 1799 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77755875	chr10:42387928-42387929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77564399	chr10:42387929-42387930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537978343	chr10:42387930-42387931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs148450368	chr10:42387932-42387933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142731679	chr10:42387934-42387935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557895927	chr10:42387938-42387939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150998612	chr10:42387943-42387944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs140709971	chr10:42387944-42387945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145735021	chr10:42387948-42387949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147801693	chr10:42387952-42387953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141262993	chr10:42387953-42387954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146951438	chr10:42387954-42387955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138508401	chr10:42387956-42387957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149612337	chr10:42387958-42387959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75206056	chr10:42387963-42387964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143398780	chr10:42387966-42387967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76159676	chr10:42387969-42387970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141427597	chr10:42387970-42387971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78594593	chr10:42387974-42387975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139502369	chr10:42387981-42387982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142885066	chr10:42387990-42387991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74805882	chr10:42387991-42387992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs79470429	chr10:42387994-42387995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76537833	chr10:42387998-42387999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146088289	chr10:42388019-42388020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61847747	chr10:42388020-42388021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539661529	chr10:42388021-42388022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553517063	chr10:42388032-42388033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573487644	chr10:42388033-42388034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57430873	chr10:42388034-42388035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76920109	chr10:42388036-42388037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61574698	chr10:42388037-42388038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79277837	chr10:42388040-42388041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542114930	chr10:42388043-42388044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61485928	chr10:42388044-42388045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145112412	chr10:42388056-42388057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59884644	chr10:42388057-42388058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144499996	chr10:42388060-42388061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76903812	chr10:42388061-42388062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575249206	chr10:42388067-42388068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544156118	chr10:42388070-42388071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564443196	chr10:42388071-42388072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61847748	chr10:42388072-42388073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35605126	chr10:42388075-42388076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75356895	chr10:42388079-42388080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57833023	chr10:42388081-42388082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58455097	chr10:42388082-42388083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78095038	chr10:42388085-42388086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186452058	chr10:42388086-42388087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34271451	chr10:42388089-42388090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	20858243	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
Ovarian cancer	21781307	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
2	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
4	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
5	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
6	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
7	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
8	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
9	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
11	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
12	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
26	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
34	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
36	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
37	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
38	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
40	chr10:42373600-42400800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr10:42373600-42400800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
42	chr10:42373600-42400800	ZNF genes & repeats	Dnd41	blood
43	chr10:42373600-42400800	ZNF genes & repeats	HMEC	breast
44	chr10:42373600-42400800	ZNF genes & repeats	HSMMtube	muscle
45	chr10:42373600-42400800	ZNF genes & repeats	NH-A	brain
46	chr10:42373600-42401200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr10:42373600-42402200	ZNF genes & repeats	Colonic Mucosa	Colon
48	chr10:42373600-42402400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr10:42373600-42402400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr10:42373600-42402400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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