Variant report

Variant	esv3410503
Chromosome Location	chr10:94043665-94044082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562892175	chr10:94043674-94043675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540882820	chr10:94043690-94043691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558003740	chr10:94043692-94043693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576535474	chr10:94043746-94043747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577542463	chr10:94043779-94043780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544503771	chr10:94043780-94043781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528821491	chr10:94043795-94043796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564414002	chr10:94043796-94043797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80226282	chr10:94043811-94043812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77164958	chr10:94043813-94043814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533101245	chr10:94043828-94043829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545776401	chr10:94043869-94043870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540062425	chr10:94043905-94043906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560157823	chr10:94044018-94044019	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148033524	chr10:94044030-94044031	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373078691	chr10:94044036-94044037	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12358765	chr10:94044074-94044075	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94020200-94049800	Weak transcription	Brain Anterior Caudate	brain
2	chr10:94025800-94049800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr10:94032800-94043800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:94039200-94048800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:94039200-94049600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:94039400-94044000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:94039400-94044000	Weak transcription	Brain Substantia Nigra	brain
8	chr10:94039600-94044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:94039600-94044200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:94039600-94044200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:94039800-94049600	Weak transcription	Right Atrium	heart
12	chr10:94040000-94044000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:94040000-94048600	Weak transcription	Lung	lung
14	chr10:94040400-94044200	Weak transcription	Psoas Muscle	Psoas
15	chr10:94042800-94043800	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:94042800-94044000	Enhancers	GM12878-XiMat	blood
17	chr10:94043000-94044000	Weak transcription	Brain Hippocampus Middle	brain
18	chr10:94043000-94044400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:94043200-94044000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:94043200-94049800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:94043800-94044200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:94044000-94044200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:94044000-94044200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:94044000-94044200	Enhancers	Brain Hippocampus Middle	brain
25	chr10:94044000-94044200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr10:94044000-94044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:94044000-94044400	Active TSS	Adipose Nuclei	Adipose
28	chr10:94044000-94044400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:94044000-94044400	Enhancers	Stomach Mucosa	stomach
30	chr10:94044000-94044400	Enhancers	Stomach Smooth Muscle	stomach
31	chr10:94044000-94044400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr10:94044000-94044600	Flanking Active TSS	GM12878-XiMat	blood
33	chr10:94044000-94044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:94044000-94044800	Enhancers	Small Intestine	intestine
35	chr10:94044000-94045000	Enhancers	Primary B cells from peripheral blood	blood
36	chr10:94044000-94045000	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links