Variant report

Variant	nsv550210
Chromosome Location	chr10:23012096-23064702
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:23014598..23016365-chr10:23019653..23022054,2	K562	blood:
2	chr10:23016705..23019113-chr10:23023056..23025280,2	K562	blood:
3	chr10:23016693..23018672-chr10:23040807..23043389,2	K562	blood:
4	chr10:23030010..23032261-chr10:23040421..23043665,3	K562	blood:
5	chr10:22944721..22947461-chr10:23031170..23034103,2	MCF-7	breast:
6	chr10:23030010..23032261-chr10:23040421..23043665,3	K562	blood:
7	chr10:23022751..23025731-chr10:23344212..23345914,2	K562	blood:
8	chr10:23015053..23017126-chr10:23022696..23025104,2	MCF-7	breast:
9	chr10:23016705..23019113-chr10:23023056..23025280,2	K562	blood:
10	chr10:23010619..23013032-chr10:23343803..23345736,2	K562	blood:
11	chr10:23016693..23018672-chr10:23040807..23043389,2	K562	blood:
12	chr10:23006228..23008699-chr10:23011054..23014038,2	K562	blood:
13	chr10:23052115..23054835-chr10:23068399..23071194,3	MCF-7	breast:
14	chr10:23030110..23031615-chr10:23040326..23042788,2	K562	blood:
15	chr10:23015053..23017126-chr10:23022696..23025104,2	MCF-7	breast:
16	chr10:23039009..23041955-chr10:23046349..23048617,2	MCF-7	breast:
17	chr10:23014598..23016365-chr10:23019653..23022054,2	K562	blood:
18	chr10:23063472..23065869-chr10:23066281..23069279,2	MCF-7	breast:
19	chr10:23000655..23003612-chr10:23018832..23020493,2	MCF-7	breast:
20	chr10:23030110..23031615-chr10:23040326..23042788,2	K562	blood:
21	chr10:22989774..22994119-chr10:23044705..23049476,4	K562	blood:
22	chr10:23000525..23003741-chr10:23009188..23012345,5	MCF-7	breast:
23	chr10:23039009..23041955-chr10:23046349..23048617,2	MCF-7	breast:
24	chr10:23003493..23005808-chr10:23014761..23017222,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150867	chromatin interactions

Extended variants
information (count: 1665 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1665 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16922629	chr10:23012096-23012097	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560462481	chr10:23012122-23012123	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562951014	chr10:23012132-23012133	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113778333	chr10:23012136-23012137	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548527388	chr10:23012208-23012209	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568680846	chr10:23012210-23012211	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149869649	chr10:23012244-23012245	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547620059	chr10:23012252-23012253	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570701345	chr10:23012278-23012279	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538394321	chr10:23012282-23012283	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558234321	chr10:23012285-23012286	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575260676	chr10:23012287-23012288	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76241101	chr10:23012291-23012292	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7905631	chr10:23012317-23012318	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185711943	chr10:23012321-23012322	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574675583	chr10:23012359-23012360	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530982641	chr10:23012388-23012389	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35036404	chr10:23012391-23012392	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540521430	chr10:23012483-23012484	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147598239	chr10:23012507-23012508	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74125206	chr10:23012514-23012515	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545978994	chr10:23012536-23012537	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190192818	chr10:23012568-23012569	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531803313	chr10:23012588-23012589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548319401	chr10:23012594-23012595	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562098871	chr10:23012602-23012603	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113589702	chr10:23012682-23012683	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535591594	chr10:23012683-23012684	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528017948	chr10:23012684-23012685	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558682271	chr10:23012688-23012689	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577139831	chr10:23012710-23012711	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570764906	chr10:23012730-23012731	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112202262	chr10:23012732-23012733	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550316742	chr10:23012750-23012751	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568884068	chr10:23012759-23012760	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369001728	chr10:23012782-23012783	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553146669	chr10:23012806-23012807	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369035357	chr10:23012815-23012816	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574368906	chr10:23012855-23012856	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533721849	chr10:23012862-23012863	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549181426	chr10:23012867-23012868	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554115639	chr10:23012938-23012939	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528926254	chr10:23012944-23012945	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537308535	chr10:23012965-23012966	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546042040	chr10:23012976-23012977	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73600503	chr10:23012978-23012979	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576494729	chr10:23013008-23013009	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140378971	chr10:23013061-23013062	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561987700	chr10:23013062-23013063	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541763691	chr10:23013080-23013081	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23004400-23016400	Weak transcription	Brain Anterior Caudate	brain
2	chr10:23004400-23017800	Weak transcription	Spleen	Spleen
3	chr10:23009800-23016600	Weak transcription	Brain Angular Gyrus	brain
4	chr10:23010600-23014000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:23011200-23012400	Enhancers	HepG2	liver
6	chr10:23011400-23012400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:23011400-23013200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:23011400-23014000	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:23011600-23012400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:23011600-23012600	Enhancers	Duodenum Mucosa	Duodenum
11	chr10:23011600-23012600	Enhancers	Fetal Thymus	thymus
12	chr10:23011600-23012600	Flanking Active TSS	GM12878-XiMat	blood
13	chr10:23011600-23013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:23011600-23013600	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:23011800-23012200	Enhancers	Primary B cells from cord blood	blood
16	chr10:23011800-23012400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr10:23011800-23012600	Enhancers	Primary T cells from cord blood	blood
18	chr10:23011800-23012600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:23011800-23012600	Enhancers	Fetal Kidney	kidney
20	chr10:23011800-23013000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr10:23012000-23012200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:23012000-23012600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:23012000-23013000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr10:23012200-23012400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr10:23012200-23013200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr10:23012200-23013600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr10:23012600-23013000	Active TSS	GM12878-XiMat	blood
28	chr10:23012600-23013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:23012600-23014800	Weak transcription	Primary T cells from cord blood	blood
30	chr10:23012600-23015800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:23013000-23013200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr10:23013000-23013600	Flanking Active TSS	GM12878-XiMat	blood
33	chr10:23013000-23014000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr10:23013200-23014000	Enhancers	Primary B cells from cord blood	blood
35	chr10:23013600-23014000	Enhancers	GM12878-XiMat	blood
36	chr10:23014000-23015800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr10:23014000-23016000	Weak transcription	GM12878-XiMat	blood
38	chr10:23014000-23016600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr10:23014000-23017200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr10:23014400-23014600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr10:23014600-23016400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:23015800-23016000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:23015800-23016400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr10:23015800-23017000	Enhancers	Primary B cells from peripheral blood	blood
45	chr10:23016000-23016600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:23016000-23016800	Enhancers	GM12878-XiMat	blood
47	chr10:23016200-23016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:23016200-23016800	Enhancers	Brain Cingulate Gyrus	brain
49	chr10:23016400-23016800	Enhancers	Brain Anterior Caudate	brain
50	chr10:23016400-23016800	Enhancers	Brain Inferior Temporal Lobe	brain

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