Variant report

Variant	nsv975789
Chromosome Location	chr10:552324-558059
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
2	chr10:555810..559181-chr10:734014..736581,3	MCF-7	breast:
3	chr10:556841..557546-chr10:834923..836004,5	MCF-7	breast:
4	chr10:556492..557579-chr10:835209..836234,4	MCF-7	breast:
5	chr10:551731..554315-chr10:554873..557476,2	MCF-7	breast:
6	chr10:551731..554315-chr10:554873..557476,2	MCF-7	breast:
7	chr10:550299..552878-chr10:830515..832425,2	MCF-7	breast:
8	chr10:556641..557560-chr10:835088..835885,2	K562	blood:
9	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
10	chr10:556626..557550-chr10:572468..573398,6	MCF-7	breast:
11	chr10:556739..557438-chr10:855963..856846,3	MCF-7	breast:
12	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566867040	chr10:552333-552334	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11252842	chr10:552355-552356	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375197600	chr10:552367-552368	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs816588	chr10:552375-552376	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7923999	chr10:552396-552397	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556880080	chr10:552424-552425	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115134886	chr10:552476-552477	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573641348	chr10:552482-552483	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143143183	chr10:552498-552499	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371088871	chr10:552503-552504	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369285293	chr10:552515-552516	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563748354	chr10:552531-552532	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572484460	chr10:552600-552601	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147479455	chr10:552643-552644	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565205392	chr10:552651-552652	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531133577	chr10:552662-552663	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs816587	chr10:552689-552690	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376119200	chr10:552704-552705	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561311871	chr10:552712-552713	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577074931	chr10:552713-552714	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530363574	chr10:552717-552718	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546133864	chr10:552735-552736	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139915039	chr10:552746-552747	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145349063	chr10:552768-552769	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563086382	chr10:552784-552785	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150603228	chr10:552794-552795	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185417766	chr10:552811-552812	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552625294	chr10:552818-552819	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386739751	chr10:552824-552825	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115006665	chr10:552825-552826	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557262569	chr10:552865-552866	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561962954	chr10:552912-552913	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567346015	chr10:552924-552925	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370279237	chr10:552953-552954	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536475904	chr10:552972-552973	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552636582	chr10:552978-552979	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572620167	chr10:552988-552989	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377591266	chr10:552997-552998	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139203887	chr10:552998-552999	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575232855	chr10:553016-553017	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79262842	chr10:553039-553040	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561651984	chr10:553042-553043	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530215410	chr10:553044-553045	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540844707	chr10:553045-553046	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560543219	chr10:553046-553047	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532655560	chr10:553047-553048	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552564993	chr10:553049-553050	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189942282	chr10:553094-553095	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145012455	chr10:553098-553099	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542285722	chr10:553109-553110	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:532000-557000	Weak transcription	Pancreas	Pancrea
2	chr10:537600-556600	Weak transcription	HSMM	muscle
3	chr10:538000-552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:539800-552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:540000-556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:544600-556800	Weak transcription	Placenta	Placenta
7	chr10:545200-554800	Weak transcription	Ovary	ovary
8	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:546000-556800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:546200-552800	Weak transcription	Fetal Intestine Large	intestine
11	chr10:546200-555000	Weak transcription	Left Ventricle	heart
12	chr10:546200-555200	Weak transcription	Fetal Brain Male	brain
13	chr10:546400-552600	Weak transcription	Gastric	stomach
14	chr10:546800-556400	Weak transcription	NHLF	lung
15	chr10:547000-560200	Weak transcription	Aorta	Aorta
16	chr10:547200-552800	Weak transcription	Brain Substantia Nigra	brain
17	chr10:547200-555800	Weak transcription	Fetal Brain Female	brain
18	chr10:547200-556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:547200-556800	Weak transcription	Psoas Muscle	Psoas
20	chr10:547400-555400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:547400-555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:547400-556600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:547600-552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:547600-555200	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:547600-556400	Weak transcription	NH-A	brain
26	chr10:547800-552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:547800-552800	Weak transcription	Adipose Nuclei	Adipose
28	chr10:547800-554200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:547800-554400	Weak transcription	Osteobl	bone
30	chr10:547800-555200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:548000-553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:548000-556400	Weak transcription	Lung	lung
33	chr10:548200-555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:548600-552400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:548600-556800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr10:548800-556800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr10:549400-552800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:550000-552800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr10:550000-553000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:550200-556800	Weak transcription	Fetal Kidney	kidney
41	chr10:550400-556800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:550600-552600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:550600-552600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:550600-555600	Weak transcription	Esophagus	oesophagus
45	chr10:551000-556800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr10:551400-552600	Enhancers	Spleen	Spleen
47	chr10:551400-552800	Enhancers	Primary B cells from peripheral blood	blood
48	chr10:551400-552800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:551600-552600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr10:551600-553000	Enhancers	Colon Smooth Muscle	Colon

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