Variant report

Variant	esv3415734
Chromosome Location	chr10:44080024-44081321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44080201..44082074-chr10:44101089..44103410,2	MCF-7	breast:
2	chr10:44080380..44083212-chr10:44088801..44091103,2	K562	blood:

Variant related genes	Relation type
ENSG00000198298	chromatin interactions
ENSG00000232004	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78456999	chr10:44080032-44080033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78038604	chr10:44080034-44080035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78427010	chr10:44080040-44080041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534948028	chr10:44080048-44080049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78578396	chr10:44080057-44080058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79966763	chr10:44080069-44080070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73254834	chr10:44080095-44080096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552878582	chr10:44080110-44080111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72790707	chr10:44080111-44080112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75671073	chr10:44080118-44080119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76453254	chr10:44080122-44080123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79473808	chr10:44080135-44080136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78410898	chr10:44080144-44080145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78883940	chr10:44080151-44080152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76827397	chr10:44080167-44080168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117831760	chr10:44080171-44080172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79791821	chr10:44080172-44080173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77333774	chr10:44080176-44080177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116754847	chr10:44080181-44080182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76382902	chr10:44080186-44080187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142255436	chr10:44080189-44080190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77090172	chr10:44080196-44080197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201159955	chr10:44080205-44080206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188252609	chr10:44080207-44080208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556989087	chr10:44080254-44080255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575344638	chr10:44080274-44080275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575647041	chr10:44080294-44080295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542622336	chr10:44080364-44080365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7913084	chr10:44080365-44080366	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs370549183	chr10:44080404-44080405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540955641	chr10:44080449-44080450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565469759	chr10:44080498-44080499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532798604	chr10:44080512-44080513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372397514	chr10:44080655-44080656	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs118062012	chr10:44080671-44080672	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181072452	chr10:44080673-44080674	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs530644633	chr10:44080721-44080722	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117266769	chr10:44080722-44080723	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368809509	chr10:44080729-44080730	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567290784	chr10:44080746-44080747	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528368894	chr10:44080749-44080750	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546537397	chr10:44080767-44080768	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571212542	chr10:44080798-44080799	Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs73254837	chr10:44080832-44080833	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185329368	chr10:44080833-44080834	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568980285	chr10:44080895-44080896	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs9422555	chr10:44080909-44080910	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs371514656	chr10:44080922-44080923	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148597962	chr10:44080975-44080976	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs145665165	chr10:44080983-44080984	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44072400-44080600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr10:44080600-44080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:44080600-44081000	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr10:44080800-44082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:44080800-44082400	Enhancers	Stomach Mucosa	stomach
6	chr10:44080800-44083000	Enhancers	Fetal Intestine Large	intestine
7	chr10:44081000-44083200	Enhancers	Fetal Intestine Small	intestine

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