Variant report

Variant	nsv894966
Chromosome Location	chr10:23090535-23202522
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:23001483..23003855-chr10:23099770..23102739,2	K562	blood:
2	chr10:23108350..23110476-chr10:23111720..23113681,2	K562	blood:
3	chr10:23201417..23201964-chr11:70358616..70359157,2	MCF-7	breast:
4	chr10:23080355..23083056-chr10:23096446..23098590,2	K562	blood:
5	chr10:23193210..23196139-chr10:23197274..23199153,2	K562	blood:
6	chr10:23090452..23092008-chr10:23092511..23094369,2	K562	blood:
7	chr10:23093031..23094566-chr10:23095292..23097801,2	K562	blood:
8	chr10:23089513..23092332-chr10:23095638..23097901,2	K562	blood:
9	chr10:22980163..22981684-chr10:23106478..23108245,2	K562	blood:
10	chr10:23141939..23142927-chr10:23275805..23276716,2	K562	blood:
11	chr10:23104132..23107506-chr10:23342632..23345950,5	K562	blood:
12	chr10:23199494..23201957-chr10:23203432..23206569,3	K562	blood:
13	chr10:23121025..23123725-chr10:23125978..23128015,2	K562	blood:
14	chr10:23124982..23127882-chr10:23130656..23134139,4	K562	blood:
15	chr10:23108692..23110534-chr10:23308268..23309848,2	K562	blood:
16	chr10:23093887..23094416-chr10:23266755..23267519,2	MCF-7	breast:
17	chr10:23090832..23093813-chr10:23094691..23097138,2	K562	blood:
18	chr10:23108350..23110546-chr10:23110740..23113681,3	K562	blood:
19	chr10:23112958..23115115-chr10:23343406..23346225,2	K562	blood:
20	chr10:23124982..23127882-chr10:23130656..23134139,4	K562	blood:
21	chr10:23089513..23092332-chr10:23095638..23097901,2	K562	blood:
22	chr10:23193210..23196139-chr10:23197274..23199153,2	K562	blood:
23	chr10:23121025..23123725-chr10:23125978..23128015,2	K562	blood:
24	chr10:23098595..23101084-chr2:58865453..58867756,2	MCF-7	breast:
25	chr10:23157148..23158987-chr10:23383169..23385057,2	K562	blood:
26	chr10:23191288..23192984-chr10:23205914..23208032,2	K562	blood:
27	chr10:23090452..23092008-chr10:23092511..23094369,2	K562	blood:
28	chr10:23093031..23094566-chr10:23095292..23097801,2	K562	blood:
29	chr10:23001422..23003561-chr10:23104622..23106652,2	K562	blood:
30	chr10:23108350..23110546-chr10:23110740..23113681,3	K562	blood:
31	chr10:22918208..22920899-chr10:23105511..23107568,2	K562	blood:
32	chr10:23000874..23003179-chr10:23095051..23097837,2	K562	blood:
33	chr10:23161173..23163243-chr10:23343322..23345997,2	K562	blood:
34	chr10:23108350..23110476-chr10:23111720..23113681,2	K562	blood:
35	chr10:23193463..23196152-chr10:23199414..23201535,2	K562	blood:
36	chr10:23105492..23108176-chr10:23344426..23345990,3	K562	blood:
37	chr10:23193463..23196152-chr10:23199414..23201535,2	K562	blood:
38	chr10:23103158..23106579-chr10:23341900..23344132,3	K562	blood:
39	chr10:23092682..23094839-chr2:187127661..187130019,2	MCF-7	breast:
40	chr10:23090832..23093813-chr10:23094691..23097138,2	K562	blood:
41	chr10:23200977..23203770-chr10:23343014..23345057,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000148450	chromatin interactions
ENSG00000150867	chromatin interactions

Extended variants
information (count: 3407 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:3407 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2222871	chr10:23090535-23090536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569907540	chr10:23090553-23090554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565311660	chr10:23090593-23090594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141291990	chr10:23090596-23090597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549332113	chr10:23090633-23090634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541929878	chr10:23090639-23090640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10664033	chr10:23090645-23090646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373100797	chr10:23090702-23090703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567026220	chr10:23090800-23090801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145031953	chr10:23090803-23090804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557786465	chr10:23090824-23090825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs151300902	chr10:23090896-23090897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114976612	chr10:23090897-23090898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557127760	chr10:23090911-23090912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188157894	chr10:23090913-23090914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4748821	chr10:23090918-23090919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72812415	chr10:23090932-23090933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536104145	chr10:23090957-23090958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74843434	chr10:23090993-23090994	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565340413	chr10:23091059-23091060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78107195	chr10:23091067-23091068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16922719	chr10:23091143-23091144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150486714	chr10:23091144-23091145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529117243	chr10:23091161-23091162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141077110	chr10:23091192-23091193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549270688	chr10:23091193-23091194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565838836	chr10:23091198-23091199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1361388	chr10:23091202-23091203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551079540	chr10:23091237-23091238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535508566	chr10:23091259-23091260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552152001	chr10:23091280-23091281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571264962	chr10:23091300-23091301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536723495	chr10:23091316-23091317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184831622	chr10:23091360-23091361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565874909	chr10:23091391-23091392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7908924	chr10:23091432-23091433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536473054	chr10:23091437-23091438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142723941	chr10:23091443-23091444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7908933	chr10:23091447-23091448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545726265	chr10:23091448-23091449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376918696	chr10:23091449-23091450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189965406	chr10:23091473-23091474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575623834	chr10:23091501-23091502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544683482	chr10:23091523-23091524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561389177	chr10:23091558-23091559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573833004	chr10:23091563-23091564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs137864089	chr10:23091585-23091586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371541605	chr10:23091596-23091597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528370667	chr10:23091611-23091612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374190605	chr10:23091674-23091675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23081200-23092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:23081200-23093000	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:23090000-23090800	Enhancers	Rectal Smooth Muscle	rectum
4	chr10:23090000-23093000	Enhancers	Fetal Stomach	stomach
5	chr10:23090200-23090800	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:23090200-23091400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:23090400-23090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:23090400-23092000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:23090600-23090800	Enhancers	Brain Cingulate Gyrus	brain
10	chr10:23090600-23091000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:23090600-23091000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr10:23090600-23091000	Enhancers	Fetal Lung	lung
13	chr10:23090600-23091200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:23090600-23091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:23090800-23091600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:23090800-23091800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:23090800-23091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:23090800-23094400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:23090800-23095000	Enhancers	NHDF-Ad	bronchial
20	chr10:23091000-23091400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:23091000-23093600	Weak transcription	Fetal Lung	lung
22	chr10:23091000-23093800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:23091200-23091600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:23091600-23092400	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:23091600-23095800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:23091600-23096000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:23091800-23092000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:23091800-23092200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:23091800-23092200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:23091800-23093000	Enhancers	NH-A	brain
31	chr10:23091800-23093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:23091800-23094800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:23091800-23094800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:23091800-23095000	Enhancers	HSMMtube	muscle
35	chr10:23092000-23092200	Enhancers	Primary hematopoietic stem cells	blood
36	chr10:23092000-23092400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr10:23092000-23092400	Enhancers	Brain Germinal Matrix	brain
38	chr10:23092000-23093000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:23092000-23093000	Enhancers	HMEC	breast
40	chr10:23092000-23093400	Enhancers	Stomach Smooth Muscle	stomach
41	chr10:23092000-23094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:23092000-23094600	Enhancers	NHLF	lung
43	chr10:23092000-23095800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:23092200-23092400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:23092200-23092600	Enhancers	Osteobl	bone
46	chr10:23092200-23093000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:23092200-23093000	Enhancers	HSMM	muscle
48	chr10:23092200-23093000	Enhancers	NHEK	skin
49	chr10:23092200-23095400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:23092400-23092600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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