Variant report

Variant	nsv550605
Chromosome Location	chr10:42368397-42388730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:42387191..42387693-chr16:34189725..34190226,2	MCF-7	breast:
2	chr10:42385049..42385862-chr2:89835873..89836374,2	MCF-7	breast:
3	chr10:42384702..42385548-chr19:46850298..46850828,2	MCF-7	breast:
4	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
5	chr10:42385202..42385933-chr7:149119111..149120081,2	MCF-7	breast:
6	chr10:42385048..42385927-chr20:45917973..45918793,2	MCF-7	breast:
7	chr10:42385424..42387506-chr16:88876940..88878642,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-12	chr10:42387203-42387475	NONHSAT012847
2	lnc-BMS1-11	chr10:42385001-42385282	NONHSAT012848
3	lnc-BMS1-12	chr10:42383750-42383799	NONHSAT012847

No data

Variant related genes	Relation type
ENSG00000261842	chromatin interactions
ENSG00000011485	chromatin interactions
ENSG00000198931	chromatin interactions

Extended variants
information (count: 5451 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5451 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12767237	chr10:42368397-42368398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200032823	chr10:42368399-42368400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12764739	chr10:42368400-42368401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558594719	chr10:42368401-42368402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145710714	chr10:42368408-42368409	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs578220710	chr10:42368411-42368412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375151930	chr10:42368415-42368416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369650558	chr10:42368416-42368417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201165802	chr10:42368418-42368419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540789633	chr10:42368423-42368424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12764763	chr10:42368425-42368426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150079749	chr10:42368429-42368430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62640151	chr10:42368430-42368431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs62654477	chr10:42368433-42368434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs11517404	chr10:42368435-42368436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62654478	chr10:42368442-42368443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145190444	chr10:42368445-42368446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529610169	chr10:42368447-42368448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62654479	chr10:42368451-42368452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150237927	chr10:42368456-42368457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375970269	chr10:42368459-42368460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373329739	chr10:42368460-42368461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62654480	chr10:42368462-42368463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200284200	chr10:42368471-42368472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201779938	chr10:42368477-42368478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62654481	chr10:42368479-42368480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12767423	chr10:42368490-42368491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375924019	chr10:42368491-42368492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369512685	chr10:42368492-42368493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62640152	chr10:42368497-42368498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142357549	chr10:42368500-42368501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150859786	chr10:42368502-42368503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376817388	chr10:42368507-42368508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562723665	chr10:42368510-42368511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201314808	chr10:42368516-42368517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146429654	chr10:42368521-42368522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531697309	chr10:42368526-42368527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551605932	chr10:42368527-42368528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200779679	chr10:42368528-42368529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200749310	chr10:42368541-42368542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571357718	chr10:42368542-42368543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs369412655	chr10:42368552-42368553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373793023	chr10:42368561-42368562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376886051	chr10:42368572-42368573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201802940	chr10:42368576-42368577	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527490593	chr10:42368581-42368582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547177787	chr10:42368583-42368584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370946333	chr10:42368591-42368592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61829993	chr10:42368592-42368593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536143013	chr10:42368596-42368597	Weak transcription ZNF genes & repeats	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
Breast cancer	22522925	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42355000-42372200	ZNF genes & repeats	Liver	Liver
2	chr10:42365400-42368800	Weak transcription	NHDF-Ad	bronchial
3	chr10:42365600-42368800	Weak transcription	Right Ventricle	heart
4	chr10:42366200-42368800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr10:42367000-42368800	Weak transcription	Thymus	Thymus
6	chr10:42367200-42368800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:42367200-42368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:42367200-42368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:42367200-42368800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:42367200-42368800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:42367200-42368800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:42367200-42368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:42367200-42368800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:42367200-42368800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr10:42367200-42368800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:42367200-42368800	Weak transcription	Brain Anterior Caudate	brain
17	chr10:42367200-42368800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:42367200-42368800	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:42367200-42368800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:42367200-42368800	Weak transcription	Colonic Mucosa	Colon
21	chr10:42367200-42368800	Weak transcription	Fetal Heart	heart
22	chr10:42367200-42368800	Weak transcription	Pancreas	Pancrea
23	chr10:42367200-42368800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:42367200-42368800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:42367200-42368800	Weak transcription	Small Intestine	intestine
26	chr10:42367200-42368800	Weak transcription	A549	lung
27	chr10:42367200-42368800	Weak transcription	K562	blood
28	chr10:42367200-42368800	Weak transcription	NHEK	skin
29	chr10:42367400-42368600	Weak transcription	Dnd41	blood
30	chr10:42367400-42368800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:42367400-42368800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:42367400-42368800	Weak transcription	Spleen	Spleen
33	chr10:42367800-42368800	Weak transcription	Brain Angular Gyrus	brain
34	chr10:42368000-42368800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:42368600-42372000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:42368600-42372200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr10:42368600-42372200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr10:42368600-42372200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr10:42368600-42372200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr10:42368600-42372200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr10:42368600-42372200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr10:42368600-42372200	ZNF genes & repeats	Dnd41	blood
43	chr10:42368800-42369600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
44	chr10:42368800-42369600	ZNF genes & repeats	Right Ventricle	heart
45	chr10:42368800-42369600	ZNF genes & repeats	Thymus	Thymus
46	chr10:42368800-42369600	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr10:42368800-42369600	ZNF genes & repeats	NHEK	skin
48	chr10:42368800-42370600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:42368800-42370600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:42368800-42370600	ZNF genes & repeats	Placenta	Placenta

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