Variant report

Variant	nsv512162
Chromosome Location	chr10:49915860-49919375
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	JUND	chr10:49916349-49916499	K562	blood:	n/a	n/a
2	MAX	chr10:49916312-49916488	H1-hESC	embryonic stem cell:	n/a	chr10:49916348-49916357 chr10:49916346-49916359 chr10:49916348-49916357 chr10:49916347-49916358
3	MEF2A	chr10:49916253-49916499	K562	blood:	n/a	chr10:49916394-49916408 chr10:49916395-49916406 chr10:49916393-49916408 chr10:49916389-49916410 chr10:49916389-49916410 chr10:49916396-49916405 chr10:49916393-49916408
4	MYC	chr10:49916993-49917068	MCF10A-Er-Src	breast:	n/a	n/a
5	NFE2	chr10:49917788-49917793	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:49915932-49915946	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:49918838-49919027	GM12878	blood:	n/a	n/a
8	USF1	chr10:49916201-49916540	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr10:49916202-49916471	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr10:49916220-49916487	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr10:49916122-49916529	ECC-1	luminal epithelium:	n/a	n/a
12	USF2	chr10:49916273-49916451	Hela-S3	cervix:	n/a	chr10:49916346-49916357
13	WRNIP1	chr10:49916263-49916404	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: 123 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12571676	chr10:49915931-49915932	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574613562	chr10:49915956-49915957	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34113165	chr10:49915967-49915968	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543166213	chr10:49915975-49915976	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530546427	chr10:49915980-49915981	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373229096	chr10:49915994-49915995	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12357601	chr10:49916002-49916003	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs568603152	chr10:49916012-49916013	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs374108296	chr10:49916015-49916016	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs10745282	chr10:49916032-49916033	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141339056	chr10:49916043-49916044	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs181156615	chr10:49916057-49916058	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs150783950	chr10:49916075-49916076	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs74321641	chr10:49916138-49916139	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543969096	chr10:49916220-49916221	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555596738	chr10:49916221-49916222	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573753695	chr10:49916229-49916230	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11101434	chr10:49916285-49916286	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372330813	chr10:49916344-49916345	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577560941	chr10:49916352-49916353	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12768309	chr10:49916385-49916386	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547894285	chr10:49916473-49916474	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139125989	chr10:49916495-49916496	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77250231	chr10:49916516-49916517	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549032449	chr10:49916530-49916531	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113487564	chr10:49916531-49916532	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529446867	chr10:49916590-49916591	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550385426	chr10:49916634-49916635	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74896797	chr10:49916677-49916678	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566375069	chr10:49916703-49916704	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199525262	chr10:49916764-49916765	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540166513	chr10:49916801-49916802	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538940798	chr10:49916820-49916821	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184975998	chr10:49916844-49916845	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570032320	chr10:49916907-49916908	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57430282	chr10:49916911-49916912	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189710073	chr10:49916959-49916960	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115257037	chr10:49916997-49916998	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs570730410	chr10:49917022-49917023	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552775319	chr10:49917036-49917037	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372729193	chr10:49917052-49917053	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs78011256	chr10:49917053-49917054	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368480370	chr10:49917054-49917055	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs180818810	chr10:49917059-49917060	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs60505114	chr10:49917060-49917061	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376185292	chr10:49917061-49917062	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs71026222	chr10:49917064-49917065	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563262827	chr10:49917072-49917073	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185482728	chr10:49917081-49917082	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191034718	chr10:49917085-49917086	Weak transcription Enhancers Genic enhancers Strong transcription	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:86 , 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	chr10:49912200-49916400	Enhancers	Fetal Heart	heart
8	chr10:49913000-49930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:49913200-49916400	Weak transcription	Lung	lung
10	chr10:49913400-49916200	Genic enhancers	Primary B cells from cord blood	blood
11	chr10:49913400-49916200	Weak transcription	Placenta	Placenta
12	chr10:49914000-49916200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:49914200-49922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:49914800-49917000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:49915200-49916200	Enhancers	Right Ventricle	heart
16	chr10:49915200-49916600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:49915200-49916800	Enhancers	Aorta	Aorta
18	chr10:49915200-49916800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr10:49915200-49917200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:49915400-49916200	Enhancers	Left Ventricle	heart
21	chr10:49915400-49916600	Enhancers	Brain Cingulate Gyrus	brain
22	chr10:49915400-49916800	Enhancers	Right Atrium	heart
23	chr10:49915400-49918800	Enhancers	Fetal Muscle Leg	muscle
24	chr10:49915400-49921600	Strong transcription	GM12878-XiMat	blood
25	chr10:49915600-49916600	Enhancers	Adipose Nuclei	Adipose
26	chr10:49915600-49916600	Enhancers	Stomach Smooth Muscle	stomach
27	chr10:49915600-49916800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:49915600-49916800	Enhancers	HSMMtube	muscle
29	chr10:49915800-49916600	Enhancers	Brain Substantia Nigra	brain
30	chr10:49915800-49916600	Enhancers	Fetal Lung	lung
31	chr10:49915800-49916600	Enhancers	Ovary	ovary
32	chr10:49915800-49917000	Enhancers	Brain Hippocampus Middle	brain
33	chr10:49915800-49917000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr10:49916000-49916600	Enhancers	Stomach Mucosa	stomach
35	chr10:49916000-49916600	Bivalent Enhancer	HSMM	muscle
36	chr10:49916200-49916400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:49916200-49916400	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:49916200-49916600	Strong transcription	Primary B cells from cord blood	blood
39	chr10:49916200-49916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:49916200-49916600	Weak transcription	Left Ventricle	heart
41	chr10:49916200-49916600	Weak transcription	Right Ventricle	heart
42	chr10:49916200-49916800	Enhancers	Placenta	Placenta
43	chr10:49916400-49916600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:49916400-49916600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:49916400-49916600	Enhancers	Lung	lung
46	chr10:49916400-49916800	Flanking Active TSS	Fetal Heart	heart
47	chr10:49916400-49916800	Enhancers	Fetal Stomach	stomach
48	chr10:49916400-49918800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:49916600-49916800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
50	chr10:49916600-49916800	Enhancers	Left Ventricle	heart

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