Variant report

Variant	nsv975810
Chromosome Location	chr10:23302287-23306366
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:23304838..23306425-chr10:23312487..23315247,2	K562	blood:
2	chr10:23301107..23302880-chr10:23315707..23318536,2	K562	blood:
3	chr10:23287418..23289094-chr10:23304568..23306972,2	K562	blood:
4	chr10:23297640..23302791-chr10:23338306..23344811,10	K562	blood:
5	chr10:23293236..23296028-chr10:23300295..23302745,2	MCF-7	breast:
6	chr10:23302995..23309769-chr10:23341340..23346193,8	K562	blood:
7	chr10:23301145..23302883-chr10:23341346..23344238,2	K562	blood:
8	chr10:23303236..23310250-chr10:23341340..23346193,13	K562	blood:
9	chr10:23284883..23286665-chr10:23302746..23304399,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165309	chromatin interactions
ENSG00000223131	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7087818	chr10:23302289-23302290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563436435	chr10:23302305-23302306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529125530	chr10:23302402-23302403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146599001	chr10:23302443-23302444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565992288	chr10:23302475-23302476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566407011	chr10:23302515-23302516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189867230	chr10:23302528-23302529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78743031	chr10:23302530-23302531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571233234	chr10:23302561-23302562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7087200	chr10:23302597-23302598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556657909	chr10:23302643-23302644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141457385	chr10:23302673-23302674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78085110	chr10:23302714-23302715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs193061260	chr10:23302731-23302732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573524466	chr10:23302776-23302777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545049510	chr10:23302779-23302780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185686613	chr10:23302782-23302783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs68155467	chr10:23302785-23302786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12251930	chr10:23302861-23302862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544666761	chr10:23303001-23303002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576767583	chr10:23303037-23303038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200207771	chr10:23303054-23303055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72297783	chr10:23303092-23303093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561372945	chr10:23303135-23303136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372695223	chr10:23303147-23303148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540909962	chr10:23303237-23303238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189423328	chr10:23303247-23303248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538080461	chr10:23303252-23303253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1054052	chr10:23303253-23303254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
30	rs77000509	chr10:23303335-23303336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547166393	chr10:23303383-23303384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76156436	chr10:23303409-23303410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112453862	chr10:23303410-23303411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12252340	chr10:23303416-23303417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs36060929	chr10:23303427-23303428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567059897	chr10:23303441-23303442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536442094	chr10:23303443-23303444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112819197	chr10:23303456-23303457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7901137	chr10:23303458-23303459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539283859	chr10:23303492-23303493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112774376	chr10:23303498-23303499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs117345765	chr10:23303533-23303534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544628146	chr10:23303563-23303564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12244692	chr10:23303572-23303573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74569742	chr10:23303579-23303580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575036468	chr10:23303608-23303609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143003079	chr10:23303676-23303677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6482247	chr10:23303693-23303694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116340727	chr10:23303756-23303757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530424701	chr10:23303817-23303818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23300000-23303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:23300400-23303400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr10:23301000-23303000	Weak transcription	Brain Substantia Nigra	brain
4	chr10:23301400-23311200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:23302200-23303400	Enhancers	Brain Hippocampus Middle	brain
6	chr10:23303000-23303400	Enhancers	Brain Cingulate Gyrus	brain
7	chr10:23303000-23303400	Enhancers	Brain Substantia Nigra	brain
8	chr10:23303200-23304000	Enhancers	GM12878-XiMat	blood
9	chr10:23304000-23304600	Flanking Active TSS	GM12878-XiMat	blood
10	chr10:23304000-23305400	Enhancers	K562	blood
11	chr10:23304600-23305000	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:23304600-23305400	Enhancers	GM12878-XiMat	blood
13	chr10:23305400-23306000	Flanking Active TSS	K562	blood
14	chr10:23306000-23307000	Weak transcription	K562	blood

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