Variant report

Variant	esv2756014
Chromosome Location	chr10:44966294-44972694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44965493..44968784-chr10:44970633..44973291,3	K562	blood:
2	chr10:44959846..44962752-chr10:44965575..44968477,3	K562	blood:
3	chr10:44957944..44962326-chr10:44962653..44967528,5	K562	blood:
4	chr10:44965493..44968784-chr10:44970633..44973291,3	K562	blood:
5	chr10:44956453..44959425-chr10:44971550..44974365,2	K562	blood:

Extended variants
information (count: 317 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550399008	chr10:44966304-44966305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189535805	chr10:44966308-44966309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373711665	chr10:44966322-44966323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529939958	chr10:44966362-44966363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548051822	chr10:44966430-44966431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371833495	chr10:44966431-44966432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369695992	chr10:44966467-44966468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566477182	chr10:44966486-44966487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557799767	chr10:44966487-44966488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6593415	chr10:44966492-44966493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182616351	chr10:44966541-44966542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6593416	chr10:44966581-44966582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6593417	chr10:44966600-44966601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556799696	chr10:44966629-44966630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6593418	chr10:44966635-44966636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138872691	chr10:44966660-44966661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542451329	chr10:44966671-44966672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200590256	chr10:44966679-44966680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112051054	chr10:44966680-44966681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6593419	chr10:44966683-44966684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545927196	chr10:44966693-44966694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564499927	chr10:44966713-44966714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34580256	chr10:44966732-44966733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117272434	chr10:44966736-44966737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142082197	chr10:44966775-44966776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562361735	chr10:44966868-44966869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529802444	chr10:44966892-44966893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75211470	chr10:44966911-44966912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146301423	chr10:44966915-44966916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191368480	chr10:44966916-44966917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6593420	chr10:44966932-44966933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545287451	chr10:44966952-44966953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112755931	chr10:44966953-44966954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11239060	chr10:44966955-44966956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568147745	chr10:44966966-44966967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183561593	chr10:44966987-44966988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547489211	chr10:44966991-44966992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554343857	chr10:44966996-44966997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111442971	chr10:44967012-44967013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540082397	chr10:44967049-44967050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557868631	chr10:44967057-44967058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376268082	chr10:44967076-44967077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543523674	chr10:44967077-44967078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10900042	chr10:44967086-44967087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201718863	chr10:44967088-44967089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573773444	chr10:44967107-44967108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10900043	chr10:44967133-44967134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142002707	chr10:44967163-44967164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527594272	chr10:44967164-44967165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11239061	chr10:44967177-44967178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44955800-44968400	Weak transcription	Psoas Muscle	Psoas
2	chr10:44955800-44971800	Weak transcription	Right Atrium	heart
3	chr10:44956600-44970400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:44965200-44967400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:44965400-44967200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:44965400-44967200	Enhancers	Osteobl	bone
7	chr10:44965600-44967200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:44965800-44966600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:44965800-44967200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:44966000-44967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:44966200-44966600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:44966200-44966800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:44966600-44969000	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:44966600-44971800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:44966800-44967200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:44967000-44967400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:44967200-44968400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:44967200-44968400	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:44967200-44968400	Weak transcription	Osteobl	bone
20	chr10:44967200-44971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:44967200-44971800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:44967400-44968400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:44967400-44972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:44968200-44968800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:44968400-44968800	Enhancers	Fetal Muscle Leg	muscle
26	chr10:44968400-44968800	Enhancers	Psoas Muscle	Psoas
27	chr10:44968400-44968800	Enhancers	Osteobl	bone
28	chr10:44968400-44969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:44968400-44969000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:44968600-44969000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:44968800-44971600	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:44968800-44971600	Weak transcription	Osteobl	bone
33	chr10:44968800-44974000	Weak transcription	Psoas Muscle	Psoas
34	chr10:44969000-44971800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:44969000-44972000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:44970400-44970600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:44970600-44972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:44970800-44972800	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:44971400-44971800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:44971400-44974600	Enhancers	NHDF-Ad	bronchial
41	chr10:44971600-44972000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:44971600-44975200	Enhancers	Fetal Muscle Leg	muscle
43	chr10:44971600-44975400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:44971600-44975400	Enhancers	Osteobl	bone
45	chr10:44971800-44972000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:44971800-44972000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr10:44971800-44972200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:44971800-44972400	Enhancers	Fetal Brain Male	brain
49	chr10:44971800-44972800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:44971800-44972800	Enhancers	Fetal Stomach	stomach

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