Variant report

Variant	nsv550066
Chromosome Location	chr10:18844621-18860594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:18850803-18851483	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:18854097-18854130	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:18847006-18847183	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:18855015-18855499	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:18852867-18853155	HepG2	liver:	n/a	n/a
6	BRCA1	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
9	CEBPB	chr10:18854245-18854618	K562	blood:	n/a	n/a
10	CEBPB	chr10:18855132-18855383	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr10:18854418-18854541	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
13	CTCF	chr10:18860127-18860500	K562	blood:	n/a	n/a
14	CUX1	chr10:18860126-18860500	K562	blood:	n/a	n/a
15	ELK1	chr10:18848238-18848610	Hela-S3	cervix:	n/a	n/a
16	ELK1	chr10:18860126-18860499	GM12878	blood:	n/a	n/a
17	EP300	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
18	EP300	chr10:18860126-18860682	Hela-S3	cervix:	n/a	n/a
19	GTF2F1	chr10:18860127-18860500	H1-hESC	embryonic stem cell:	n/a	n/a
20	GTF2F1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr10:18854245-18854445	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
23	GTF2F1	chr10:18860126-18860500	K562	blood:	n/a	n/a
24	IKZF1	chr10:18845498-18849999	GM12878	blood:	n/a	n/a
25	IKZF1	chr10:18850718-18859452	GM12878	blood:	n/a	n/a
26	IKZF1	chr10:18860104-18860520	GM12878	blood:	n/a	n/a
27	IRF3	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
28	MAFF	chr10:18854245-18854590	K562	blood:	n/a	n/a
29	MAFF	chr10:18860127-18860500	K562	blood:	n/a	n/a
30	MAFK	chr10:18860126-18860500	K562	blood:	n/a	n/a
31	MAFK	chr10:18860126-18860499	Hela-S3	cervix:	n/a	n/a
32	MAFK	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr10:18854248-18854618	K562	blood:	n/a	n/a
36	MXI1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
38	NRF1	chr10:18860127-18860500	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:18848323-18848547	K562	blood:	n/a	n/a
40	POLR2A	chr10:18856448-18856713	K562	blood:	n/a	n/a
41	POLR2A	chr10:18859711-18859931	K562	blood:	n/a	n/a
42	POLR2A	chr10:18849551-18850584	K562	blood:	n/a	n/a
43	POLR2A	chr10:18847509-18847700	K562	blood:	n/a	n/a
44	POLR2A	chr10:18858442-18858534	GM12878	blood:	n/a	n/a
45	POLR2A	chr10:18852589-18852767	K562	blood:	n/a	n/a
46	POLR2A	chr10:18856008-18856021	K562	blood:	n/a	n/a
47	POLR2A	chr10:18845591-18845617	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:18853986-18854095	K562	blood:	n/a	n/a
49	POLR2A	chr10:18854830-18855005	K562	blood:	n/a	n/a
50	POLR2A	chr10:18848825-18849255	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
NSUN6	TF binding region

Extended variants
information (count: 1055 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62636211	chr10:18844624-18844625	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62648412	chr10:18844626-18844627	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62636212	chr10:18844640-18844641	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528171621	chr10:18844657-18844658	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546403619	chr10:18844678-18844679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114017942	chr10:18844696-18844697	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190676749	chr10:18844701-18844702	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567443576	chr10:18844714-18844715	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528646657	chr10:18844768-18844769	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12355426	chr10:18844773-18844774	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571604381	chr10:18844776-18844777	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538914389	chr10:18844783-18844784	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557641987	chr10:18844811-18844812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62648414	chr10:18844823-18844824	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12772121	chr10:18844828-18844829	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367637985	chr10:18844834-18844835	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142462616	chr10:18844835-18844836	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370486038	chr10:18844836-18844837	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111208091	chr10:18844839-18844840	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536263441	chr10:18844845-18844846	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554686175	chr10:18844849-18844850	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573011080	chr10:18844854-18844855	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149640831	chr10:18844858-18844859	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374284230	chr10:18844860-18844861	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368147634	chr10:18844861-18844862	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370735974	chr10:18844863-18844864	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374402389	chr10:18844864-18844865	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111208092	chr10:18844871-18844872	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533968769	chr10:18844909-18844910	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558838726	chr10:18844910-18844911	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536464668	chr10:18844922-18844923	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576971256	chr10:18844924-18844925	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181969020	chr10:18844963-18844964	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs371680980	chr10:18844975-18844976	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185951199	chr10:18845004-18845005	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143907894	chr10:18845009-18845010	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543042486	chr10:18845019-18845020	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147280983	chr10:18845031-18845032	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189058386	chr10:18845036-18845037	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs139218973	chr10:18845046-18845047	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111217326	chr10:18845102-18845103	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200564167	chr10:18845109-18845110	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs143238933	chr10:18845113-18845114	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532755055	chr10:18845129-18845130	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs550961266	chr10:18845146-18845147	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569559976	chr10:18845151-18845152	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535857969	chr10:18845157-18845158	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548249793	chr10:18845160-18845161	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201338015	chr10:18845173-18845174	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548824398	chr10:18845176-18845177	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr10:18824200-18850600	Weak transcription	NHLF	lung
4	chr10:18827200-18845200	Weak transcription	NHEK	skin
5	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
7	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
8	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
9	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:18830600-18845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:18830600-18846600	Weak transcription	NH-A	brain
12	chr10:18831000-18846000	Weak transcription	Lung	lung
13	chr10:18831000-18850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:18834400-18847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:18838800-18849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr10:18840400-18847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:18840600-18851200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr10:18840800-18851000	Weak transcription	Psoas Muscle	Psoas
19	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
20	chr10:18841000-18845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:18841400-18848800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr10:18841600-18849600	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr10:18841600-18849800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr10:18841600-18850000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr10:18841600-18850000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:18841600-18850000	ZNF genes & repeats	Fetal Lung	lung
27	chr10:18841600-18851400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr10:18841600-18851800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
29	chr10:18841600-18854600	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr10:18841600-18856200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr10:18841800-18844800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr10:18841800-18844800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr10:18841800-18847000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr10:18841800-18849600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr10:18841800-18849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:18841800-18850000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr10:18841800-18850000	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr10:18841800-18850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr10:18841800-18853000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr10:18841800-18855400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:18842000-18845400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:18842000-18845600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:18842000-18845600	Weak transcription	Pancreas	Pancrea
44	chr10:18842000-18846200	Weak transcription	Gastric	stomach
45	chr10:18842000-18847800	Weak transcription	Stomach Mucosa	stomach
46	chr10:18842000-18848600	Weak transcription	Placenta	Placenta
47	chr10:18842000-18849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr10:18842000-18849200	ZNF genes & repeats	Fetal Brain Female	brain
49	chr10:18842000-18850000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:18842000-18851400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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