Variant report

Variant	esv3363830
Chromosome Location	chr10:43641696-43643694
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	chr10:43642146..43644842-chr10:43653993..43656296,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35932241	chr10:43641722-43641723	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367566108	chr10:43641729-43641730	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558780224	chr10:43641731-43641732	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369414552	chr10:43641745-43641746	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541383305	chr10:43641863-43641864	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374414799	chr10:43641864-43641865	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533036541	chr10:43641874-43641875	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551754486	chr10:43641894-43641895	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562821777	chr10:43641916-43641917	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375112606	chr10:43641920-43641921	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186902096	chr10:43642101-43642102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576132715	chr10:43642114-43642115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2435338	chr10:43642115-43642116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs567568866	chr10:43642145-43642146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534881928	chr10:43642158-43642159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2435339	chr10:43642173-43642174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs59606270	chr10:43642179-43642180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560746604	chr10:43642223-43642224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571915133	chr10:43642272-43642273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554182087	chr10:43642429-43642430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370336697	chr10:43642438-43642439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373727690	chr10:43642440-43642441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61843234	chr10:43642441-43642442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61648971	chr10:43642446-43642447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371237808	chr10:43642463-43642464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371812955	chr10:43642526-43642527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12245914	chr10:43642554-43642555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529876743	chr10:43642569-43642570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370568088	chr10:43642572-43642573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538932762	chr10:43642573-43642574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12260994	chr10:43642584-43642585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375891439	chr10:43642585-43642586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562668376	chr10:43642591-43642592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61843235	chr10:43642615-43642616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191749241	chr10:43642623-43642624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551496576	chr10:43642634-43642635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375798893	chr10:43642640-43642641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184289066	chr10:43642674-43642675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11238453	chr10:43642707-43642708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143063919	chr10:43642714-43642715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577885540	chr10:43642718-43642719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544960307	chr10:43642723-43642724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532334214	chr10:43642725-43642726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563730654	chr10:43642771-43642772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143382779	chr10:43642792-43642793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111585476	chr10:43642794-43642795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201827225	chr10:43642796-43642797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567656106	chr10:43642797-43642798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3004212	chr10:43642810-43642811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527975665	chr10:43642923-43642924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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	21509527	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43634800-43646800	Weak transcription	Left Ventricle	heart
2	chr10:43634800-43652200	Weak transcription	Gastric	stomach
3	chr10:43635200-43641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr10:43635400-43642400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:43635400-43644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:43635600-43647000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
9	chr10:43635800-43642000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr10:43636000-43641800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr10:43636400-43647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:43636600-43641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:43636600-43642200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:43636600-43646800	Weak transcription	NHLF	lung
15	chr10:43636600-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:43636600-43655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:43637400-43642000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:43637400-43647000	Weak transcription	HSMMtube	muscle
19	chr10:43637400-43655200	Weak transcription	HSMM	muscle
20	chr10:43637600-43651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:43637600-43652200	Weak transcription	Fetal Thymus	thymus
22	chr10:43638000-43642000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:43638200-43643800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:43638200-43646800	Weak transcription	Thymus	Thymus
25	chr10:43638600-43645800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:43638600-43649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:43639000-43642000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr10:43639000-43644400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:43639400-43647000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:43639400-43650600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:43639600-43647000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:43640000-43641800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:43640400-43642200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr10:43640400-43642200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:43640400-43642400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:43640400-43643200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:43640600-43642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr10:43640600-43643000	Weak transcription	NHDF-Ad	bronchial
39	chr10:43640600-43646200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:43641000-43642000	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr10:43641000-43644800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:43641000-43646400	Weak transcription	Osteobl	bone
43	chr10:43641200-43641800	Enhancers	Primary B cells from cord blood	blood
44	chr10:43641200-43642000	Weak transcription	Primary T cells from cord blood	blood
45	chr10:43641200-43643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr10:43641200-43646800	Weak transcription	Small Intestine	intestine
47	chr10:43641400-43641800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr10:43641400-43657400	Weak transcription	A549	lung
49	chr10:43641600-43642000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr10:43641600-43642000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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