Variant report

Variant	esv3411536
Chromosome Location	chr10:99106419-99106913
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	chr10:99092066..99094554-chr10:99103666..99106969,3	MCF-7	breast:
2	chr10:99091261..99093952-chr10:99104801..99106882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181274	chromatin interactions
ENSG00000225850	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541064073	chr10:99106466-99106467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1970191	chr10:99106468-99106469	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1977652	chr10:99106483-99106484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544863484	chr10:99106528-99106529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563491893	chr10:99106551-99106552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143331945	chr10:99106555-99106556	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531001293	chr10:99106591-99106592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549504596	chr10:99106632-99106633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs60072398	chr10:99106636-99106637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145321158	chr10:99106640-99106641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547015993	chr10:99106680-99106681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571824083	chr10:99106684-99106685	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2861878	chr10:99106692-99106693	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs550726812	chr10:99106707-99106708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11189148	chr10:99106749-99106750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536700166	chr10:99106797-99106798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555036083	chr10:99106801-99106802	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372029960	chr10:99106827-99106828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184730142	chr10:99106839-99106840	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371628740	chr10:99106854-99106855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368472840	chr10:99106865-99106866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556595862	chr10:99106872-99106873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144214199	chr10:99106873-99106874	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs4503460	chr10:99106893-99106894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11189149	chr10:99106897-99106898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563428167	chr10:99106907-99106908	Weak 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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99095200-99109400	Weak transcription	HSMMtube	muscle
2	chr10:99095200-99115200	Weak transcription	Gastric	stomach
3	chr10:99095400-99109400	Weak transcription	Liver	Liver
4	chr10:99095400-99115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:99095400-99115600	Weak transcription	Left Ventricle	heart
6	chr10:99095400-99115600	Weak transcription	Right Ventricle	heart
7	chr10:99097400-99109600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:99097400-99115200	Weak transcription	A549	lung
9	chr10:99097400-99116000	Weak transcription	Hela-S3	cervix
10	chr10:99097600-99109400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr10:99097600-99109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:99097600-99109600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:99097600-99115200	Weak transcription	NHEK	skin
14	chr10:99097600-99115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:99098200-99108800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:99098200-99116200	Weak transcription	Brain Angular Gyrus	brain
17	chr10:99098400-99109200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:99098400-99109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:99098400-99115200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:99098600-99114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:99098600-99115400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:99099200-99109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:99099400-99113600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:99099400-99115600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:99101800-99114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:99102400-99115400	Weak transcription	Pancreas	Pancrea
27	chr10:99103000-99116000	Weak transcription	Brain Germinal Matrix	brain
28	chr10:99103400-99109400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:99104200-99109400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:99104400-99109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:99104400-99109800	Weak transcription	Primary B cells from cord blood	blood
32	chr10:99104800-99107000	Weak transcription	K562	blood
33	chr10:99105400-99109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:99105600-99109400	Weak transcription	NH-A	brain
35	chr10:99105600-99113800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:99106200-99106600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr10:99106400-99109600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:99106400-99111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:99106600-99108200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr10:99106600-99108600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:99106600-99109200	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:99106600-99109200	Weak transcription	NHLF	lung
43	chr10:99106600-99109600	Weak transcription	HSMM	muscle
44	chr10:99106600-99113400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:99106800-99116400	Weak transcription	Aorta	Aorta

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