Variant report

Variant	esv3375988
Chromosome Location	chr10:99112594-99113170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99091407..99096076-chr10:99110583..99117776,8	MCF-7	breast:
2	chr10:99095023..99098677-chr10:99109833..99114591,4	MCF-7	breast:
3	chr10:99109959..99112928-chr10:99114627..99116420,2	K562	blood:
4	chr10:99091031..99094370-chr10:99110745..99113194,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181274	chromatin interactions
ENSG00000225850	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149344239	chr10:99112618-99112619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563813806	chr10:99112634-99112635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58782339	chr10:99112694-99112695	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561721855	chr10:99112726-99112727	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs61863813	chr10:99112786-99112787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs12356929	chr10:99112807-99112808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142709079	chr10:99112809-99112810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs58991054	chr10:99112810-99112811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549388991	chr10:99112811-99112812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567849356	chr10:99112822-99112823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143726812	chr10:99112843-99112844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573262668	chr10:99112847-99112848	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115034998	chr10:99112865-99112866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373450838	chr10:99112896-99112897	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148117001	chr10:99112901-99112902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539102895	chr10:99112910-99112911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371103746	chr10:99112920-99112921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375620113	chr10:99112926-99112927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185523946	chr10:99113006-99113007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536628121	chr10:99113015-99113016	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546295902	chr10:99113031-99113032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573817933	chr10:99113044-99113045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573010954	chr10:99113120-99113121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143897604	chr10:99113143-99113144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	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
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99095200-99115200	Weak transcription	Gastric	stomach
2	chr10:99095400-99115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:99095400-99115600	Weak transcription	Left Ventricle	heart
4	chr10:99095400-99115600	Weak transcription	Right Ventricle	heart
5	chr10:99097400-99115200	Weak transcription	A549	lung
6	chr10:99097400-99116000	Weak transcription	Hela-S3	cervix
7	chr10:99097600-99115200	Weak transcription	NHEK	skin
8	chr10:99097600-99115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:99098200-99116200	Weak transcription	Brain Angular Gyrus	brain
10	chr10:99098400-99115200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:99098600-99114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:99098600-99115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:99099400-99113600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:99099400-99115600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:99101800-99114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:99102400-99115400	Weak transcription	Pancreas	Pancrea
17	chr10:99103000-99116000	Weak transcription	Brain Germinal Matrix	brain
18	chr10:99105600-99113800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:99106600-99113400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:99106800-99116400	Weak transcription	Aorta	Aorta
21	chr10:99107000-99115400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:99107000-99131800	Weak transcription	Fetal Kidney	kidney
23	chr10:99107200-99115200	Weak transcription	Psoas Muscle	Psoas
24	chr10:99107200-99115400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:99107200-99115600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:99107200-99116000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:99107200-99129200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr10:99107400-99116000	Weak transcription	Primary T cells from cord blood	blood
29	chr10:99107600-99115200	Weak transcription	Dnd41	blood
30	chr10:99107600-99116000	Weak transcription	Fetal Thymus	thymus
31	chr10:99107800-99114600	Weak transcription	Osteobl	bone
32	chr10:99107800-99117600	Weak transcription	Fetal Lung	lung
33	chr10:99108200-99115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:99108200-99115400	Weak transcription	HepG2	liver
35	chr10:99108200-99116000	Weak transcription	Esophagus	oesophagus
36	chr10:99108400-99115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:99108400-99115800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr10:99108600-99115200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:99108600-99115200	Weak transcription	Fetal Brain Female	brain
40	chr10:99109000-99115600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:99109200-99113000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:99109200-99115200	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:99109400-99115200	Weak transcription	Adipose Nuclei	Adipose
45	chr10:99109400-99115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:99109400-99118400	Weak transcription	HMEC	breast
47	chr10:99109400-99120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:99109600-99115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:99109600-99115400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:99109600-99115400	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links