Variant report

Variant	esv2189509
Chromosome Location	chr10:93175562-93176016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93174571..93177755-chr10:93180485..93182770,3	K562	blood:
2	chr10:93175184..93178091-chr10:93179024..93182770,3	K562	blood:
3	chr10:93172033..93173602-chr10:93174597..93176611,2	MCF-7	breast:
4	chr10:93169440..93173782-chr10:93175073..93182747,10	K562	blood:
5	chr10:93174410..93176355-chr10:93191007..93193487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165338	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77969496	chr10:93175569-93175570	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552846150	chr10:93175582-93175583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186990083	chr10:93175590-93175591	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528812985	chr10:93175610-93175611	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192758321	chr10:93175671-93175672	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572959079	chr10:93175689-93175690	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11186562	chr10:93175776-93175777	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375168282	chr10:93175780-93175781	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201292288	chr10:93175795-93175796	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs398014422	chr10:93175804-93175805	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139638633	chr10:93175906-93175907	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375052318	chr10:93175939-93175940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73316216	chr10:93175953-93175954	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
low-grade B-cell lymphoma tumor	18367492	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93170800-93204600	Weak transcription	Gastric	stomach
2	chr10:93171000-93195000	Weak transcription	Left Ventricle	heart
3	chr10:93171200-93176000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:93171200-93176200	Weak transcription	Brain Substantia Nigra	brain
5	chr10:93171200-93176200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:93171600-93176000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:93171600-93176000	Weak transcription	A549	lung
8	chr10:93171600-93176200	Weak transcription	Fetal Stomach	stomach
9	chr10:93171600-93176200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:93171600-93180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:93171800-93176200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:93171800-93180400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:93171800-93203200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:93172000-93176000	Weak transcription	Brain Angular Gyrus	brain
15	chr10:93172000-93176200	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:93172000-93176800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:93172200-93176800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:93172200-93195200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:93172600-93176200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:93172800-93176400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:93172800-93180400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:93172800-93186200	Weak transcription	Ovary	ovary
23	chr10:93173200-93176200	Weak transcription	Small Intestine	intestine
24	chr10:93173200-93194800	Weak transcription	Brain Germinal Matrix	brain
25	chr10:93173400-93175600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:93173600-93176400	Weak transcription	Psoas Muscle	Psoas
27	chr10:93173800-93175600	Enhancers	HMEC	breast
28	chr10:93173800-93175600	Enhancers	HSMMtube	muscle
29	chr10:93173800-93176800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr10:93174000-93175600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:93174000-93176400	Enhancers	Osteobl	bone
32	chr10:93174000-93176600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr10:93174000-93176800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:93174200-93175600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:93174200-93175600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:93174200-93176600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:93174400-93175600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr10:93174400-93176000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:93174600-93198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:93174800-93175600	Enhancers	Dnd41	blood
41	chr10:93174800-93176000	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:93174800-93177000	Weak transcription	Fetal Heart	heart
43	chr10:93175000-93175800	Enhancers	NH-A	brain
44	chr10:93175000-93176000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:93175000-93176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:93175000-93176200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:93175000-93176200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:93175000-93176200	Enhancers	HSMM	muscle
49	chr10:93175000-93176600	Enhancers	Primary T cells from cord blood	blood
50	chr10:93175000-93176800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links