Variant report

Variant	nsv523003
Chromosome Location	chr10:49917061-49920608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:49916993-49917068	MCF10A-Er-Src	breast:	n/a	n/a
2	NFE2	chr10:49917788-49917793	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:49918838-49919027	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:49919787-49919856	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr10:49919628-49919775	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49918859..49921517-chr10:49927615..49930107,2	MCF-7	breast:

Variant related genes	Relation type
WDFY4	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376185292	chr10:49917061-49917062	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71026222	chr10:49917064-49917065	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563262827	chr10:49917072-49917073	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185482728	chr10:49917081-49917082	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191034718	chr10:49917085-49917086	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370039477	chr10:49917169-49917170	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111447319	chr10:49917172-49917173	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146324544	chr10:49917174-49917175	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371290963	chr10:49917176-49917177	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375448940	chr10:49917178-49917179	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369943493	chr10:49917180-49917181	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181941587	chr10:49917476-49917477	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78308383	chr10:49917479-49917480	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561026780	chr10:49917490-49917491	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528222880	chr10:49917514-49917515	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368715368	chr10:49917576-49917577	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547951232	chr10:49917586-49917587	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537190136	chr10:49917587-49917588	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556735345	chr10:49917652-49917653	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560026117	chr10:49917653-49917654	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139599362	chr10:49917698-49917699	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552074781	chr10:49917748-49917749	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144225791	chr10:49917753-49917754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537413437	chr10:49917860-49917861	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200560672	chr10:49917865-49917866	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186562618	chr10:49917886-49917887	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567725571	chr10:49917965-49917966	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78218203	chr10:49918021-49918022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77698302	chr10:49918046-49918047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191929596	chr10:49918050-49918051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112529402	chr10:49918061-49918062	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531461977	chr10:49918078-49918079	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556794862	chr10:49918132-49918133	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575487682	chr10:49918135-49918136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542607266	chr10:49918199-49918200	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554298058	chr10:49918201-49918202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572882039	chr10:49918227-49918228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114694766	chr10:49918290-49918291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564996053	chr10:49918304-49918305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533518339	chr10:49918342-49918343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1871608	chr10:49918427-49918428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs563963948	chr10:49918432-49918433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182847546	chr10:49918467-49918468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146544814	chr10:49918473-49918474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372766232	chr10:49918503-49918504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186419706	chr10:49918516-49918517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528507881	chr10:49918554-49918555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7912944	chr10:49918587-49918588	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs571414430	chr10:49918599-49918600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538435147	chr10:49918620-49918621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr10:49907400-49917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:49908200-49922800	Weak transcription	Spleen	Spleen
4	chr10:49910800-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:49911000-49917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:49913000-49930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49914200-49922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:49915200-49917200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:49915400-49918800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:49915400-49921600	Strong transcription	GM12878-XiMat	blood
12	chr10:49916400-49918800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:49916600-49917400	Weak transcription	Fetal Lung	lung
14	chr10:49916600-49917800	Weak transcription	Primary B cells from cord blood	blood
15	chr10:49916600-49917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:49916800-49917600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr10:49916800-49917800	Weak transcription	Left Ventricle	heart
18	chr10:49916800-49918800	Weak transcription	Fetal Stomach	stomach
19	chr10:49916800-49918800	Weak transcription	Right Ventricle	heart
20	chr10:49916800-49919200	Enhancers	Fetal Heart	heart
21	chr10:49916800-49920400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:49916800-49921600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:49916800-49921600	Weak transcription	Right Atrium	heart
24	chr10:49917000-49917600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:49917200-49917800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:49917600-49920200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:49917600-49921200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:49917800-49918000	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr10:49917800-49918000	Enhancers	Left Ventricle	heart
30	chr10:49917800-49919800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:49917800-49920800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr10:49917800-49921400	Strong transcription	Primary B cells from cord blood	blood
33	chr10:49917800-49921400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:49917800-49921600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:49917800-49921800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:49917800-49922400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr10:49918000-49918400	Weak transcription	Left Ventricle	heart
38	chr10:49918200-49922800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr10:49918400-49919800	Enhancers	Fetal Brain Male	brain
40	chr10:49918400-49922400	Enhancers	Left Ventricle	heart
41	chr10:49918800-49919400	Enhancers	Fetal Stomach	stomach
42	chr10:49918800-49919600	Enhancers	Fetal Muscle Trunk	muscle
43	chr10:49918800-49919600	Enhancers	Right Ventricle	heart
44	chr10:49919200-49919400	Flanking Active TSS	Fetal Heart	heart
45	chr10:49919200-49919400	Enhancers	Fetal Lung	lung
46	chr10:49919400-49919800	Enhancers	Fetal Heart	heart
47	chr10:49919400-49919800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr10:49919600-49922000	Weak transcription	Right Ventricle	heart
49	chr10:49919800-49920000	Flanking Active TSS	Fetal Heart	heart
50	chr10:49919800-49927800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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