Variant report

Variant	esv1833763
Chromosome Location	chr10:89649838-89653686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:89640838..89642681-chr10:89647239..89649894,3	K562	blood:
2	chr10:89646944..89651726-chr10:89652897..89657139,4	MCF-7	breast:
3	chr10:89620623..89623024-chr10:89650923..89652656,2	K562	blood:
4	chr10:89642392..89644637-chr10:89652677..89655610,2	MCF-7	breast:
5	chr10:89577513..89579875-chr10:89651204..89652722,2	MCF-7	breast:
6	chr10:89646944..89651726-chr10:89652897..89657139,4	MCF-7	breast:
7	chr10:89649701..89651266-chr10:89669658..89672345,2	MCF-7	breast:
8	chr10:89638682..89641996-chr10:89653428..89657390,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223820	chromatin interactions
ENSG00000171862	chromatin interactions
ENSG00000138138	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7069904	chr10:89649838-89649839	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184965759	chr10:89649873-89649874	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527839134	chr10:89649880-89649881	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80010374	chr10:89649887-89649888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573999661	chr10:89649890-89649891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566453068	chr10:89649926-89649927	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544254585	chr10:89649948-89649949	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556537813	chr10:89649960-89649961	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552873265	chr10:89649987-89649988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545463200	chr10:89649989-89649990	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2447621	chr10:89649993-89649994	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560608971	chr10:89650006-89650007	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527442285	chr10:89650033-89650034	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542845461	chr10:89650056-89650057	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561136333	chr10:89650112-89650113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531647454	chr10:89650115-89650116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549838210	chr10:89650152-89650153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149716607	chr10:89650171-89650172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116647522	chr10:89650190-89650191	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189697835	chr10:89650283-89650284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180828547	chr10:89650291-89650292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140074314	chr10:89650328-89650329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368612567	chr10:89650329-89650330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547083600	chr10:89650333-89650334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565449055	chr10:89650451-89650452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534081033	chr10:89650472-89650473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555563859	chr10:89650508-89650509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144552817	chr10:89650548-89650549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35445596	chr10:89650564-89650565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538514986	chr10:89650620-89650621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34271556	chr10:89650635-89650636	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184511109	chr10:89650653-89650654	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114034141	chr10:89650655-89650656	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148730519	chr10:89650712-89650713	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143716704	chr10:89650717-89650718	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572592421	chr10:89650722-89650723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1234218	chr10:89650759-89650760	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112522781	chr10:89650801-89650802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2471994	chr10:89650863-89650864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146775583	chr10:89650899-89650900	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543695864	chr10:89650910-89650911	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565076115	chr10:89650928-89650929	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532094203	chr10:89650956-89650957	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546994661	chr10:89650963-89650964	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565411552	chr10:89650973-89650974	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368721872	chr10:89650979-89650980	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529755319	chr10:89651012-89651013	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189441196	chr10:89651044-89651045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2516299	chr10:89651096-89651097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140492373	chr10:89651128-89651129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	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
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Glioblastoma multiforme	19115005	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	20020426	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22065749	CNVD
Cancer	22000013	CNVD
Colon cancer	22065749	CNVD
Endometrial cancer	22065749	CNVD
Lung cancer	20668451	CNVD
Breast cancer	17634833	CNVD
Cancer	20215515	CNVD
Glioblastoma multiforme	21727940	CNVD
Prostate cancer	19363497	CNVD
Prostate cancer	17700571	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20964600	CNVD
Endometrial cancer	19261849	CNVD
Central neurocytomas	17123091	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Breast cancer	21486468	CNVD
Ovarian cancer	21486468	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89625600-89663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:89628400-89662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:89631000-89663400	Weak transcription	Brain Angular Gyrus	brain
4	chr10:89633000-89663400	Weak transcription	Pancreas	Pancrea
5	chr10:89633400-89675800	Weak transcription	Small Intestine	intestine
6	chr10:89633800-89655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:89636000-89655400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:89636200-89661800	Weak transcription	Brain Anterior Caudate	brain
9	chr10:89639000-89655400	Weak transcription	Fetal Heart	heart
10	chr10:89639000-89655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:89639000-89656200	Weak transcription	Stomach Mucosa	stomach
12	chr10:89641600-89663000	Weak transcription	Esophagus	oesophagus
13	chr10:89642400-89652400	Weak transcription	Aorta	Aorta
14	chr10:89642600-89657000	Strong transcription	Dnd41	blood
15	chr10:89644600-89650400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:89644600-89654000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:89645000-89651000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:89645200-89651400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr10:89646600-89652600	Weak transcription	NHDF-Ad	bronchial
20	chr10:89646600-89663800	Weak transcription	Fetal Kidney	kidney
21	chr10:89646800-89652400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:89646800-89655800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:89646800-89657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:89646800-89659400	Strong transcription	Fetal Thymus	thymus
25	chr10:89646800-89663000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:89647000-89652600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:89647000-89655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:89647000-89667400	Weak transcription	HMEC	breast
29	chr10:89647000-89711200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:89647200-89652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:89647200-89657400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:89647200-89662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:89647200-89675400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:89647400-89650400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:89647600-89655400	Weak transcription	Fetal Brain Female	brain
36	chr10:89647600-89656600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:89647600-89657000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:89647600-89671800	Weak transcription	HUVEC	blood vessel
39	chr10:89647800-89655600	Weak transcription	Liver	Liver
40	chr10:89647800-89657000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:89647800-89662000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:89647800-89665600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr10:89647800-89671000	Weak transcription	A549	lung
44	chr10:89648000-89650000	Weak transcription	HSMM	muscle
45	chr10:89648000-89650400	Weak transcription	Fetal Stomach	stomach
46	chr10:89648000-89651600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr10:89648000-89652400	Weak transcription	NHLF	lung
48	chr10:89648000-89652600	Weak transcription	Brain Germinal Matrix	brain
49	chr10:89648000-89654600	Weak transcription	Psoas Muscle	Psoas
50	chr10:89648000-89656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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