Variant report

Variant	esv3450224
Chromosome Location	chr10:99271432-99272026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99262328..99265994-chr10:99268306..99271864,5	MCF-7	breast:
2	chr10:99271315..99274212-chr10:99282293..99285243,2	K562	blood:
3	chr10:99270070..99271608-chr10:99274562..99276590,2	MCF-7	breast:
4	chr10:99256475..99261666-chr10:99270366..99276913,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165886	chromatin interactions
ENSG00000155229	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190361156	chr10:99271444-99271445	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11189248	chr10:99271462-99271463	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573026715	chr10:99271463-99271464	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10732779	chr10:99271492-99271493	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10732780	chr10:99271496-99271497	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548872908	chr10:99271548-99271549	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567188180	chr10:99271584-99271585	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142306185	chr10:99271671-99271672	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182238735	chr10:99271740-99271741	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12357179	chr10:99271762-99271763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79085182	chr10:99271785-99271786	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs58340261	chr10:99271793-99271794	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538392728	chr10:99271820-99271821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114437857	chr10:99271834-99271835	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574919566	chr10:99271855-99271856	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146189668	chr10:99271880-99271881	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs75937865	chr10:99271904-99271905	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79755544	chr10:99271958-99271959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114201880	chr10:99271960-99271961	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186856805	chr10:99272004-99272005	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99260200-99276800	Weak transcription	Pancreas	Pancrea
2	chr10:99260400-99272000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:99260800-99276800	Weak transcription	HSMM	muscle
4	chr10:99262000-99271600	Weak transcription	HepG2	liver
5	chr10:99263400-99271600	Weak transcription	Lung	lung
6	chr10:99263600-99277800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:99263800-99277200	Weak transcription	HSMMtube	muscle
8	chr10:99263800-99277600	Weak transcription	Aorta	Aorta
9	chr10:99264000-99271600	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:99264000-99271600	Weak transcription	Right Ventricle	heart
11	chr10:99266200-99271800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:99266200-99272200	Weak transcription	Psoas Muscle	Psoas
13	chr10:99266200-99277600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:99266600-99277400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:99268000-99274400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:99268200-99272400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:99268400-99271600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:99268400-99278200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:99268600-99272000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:99268600-99272000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:99268600-99272000	Weak transcription	Brain Anterior Caudate	brain
22	chr10:99268600-99272800	Weak transcription	NHEK	skin
23	chr10:99268600-99275000	Weak transcription	Fetal Kidney	kidney
24	chr10:99268600-99275200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:99268600-99275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:99268600-99276600	Weak transcription	HMEC	breast
27	chr10:99268600-99277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:99268600-99277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:99268600-99277800	Weak transcription	NHLF	lung
30	chr10:99268800-99272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:99268800-99274200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:99268800-99274600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:99268800-99274800	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:99268800-99276600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:99268800-99276600	Weak transcription	HUVEC	blood vessel
36	chr10:99268800-99277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:99268800-99277400	Weak transcription	NH-A	brain
38	chr10:99268800-99277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:99269000-99271800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:99269000-99272800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:99269000-99274600	Weak transcription	Brain Substantia Nigra	brain
42	chr10:99269000-99277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:99269000-99277600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:99269200-99274200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:99269400-99272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:99269400-99276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:99270400-99273000	Enhancers	Adipose Nuclei	Adipose
48	chr10:99270600-99274000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:99270800-99272400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:99270800-99272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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