Variant report

Variant	nsv550061
Chromosome Location	chr10:18843332-18860469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:18854097-18854130	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:18852867-18853155	HepG2	liver:	n/a	n/a
3	ARID3A	chr10:18850803-18851483	HepG2	liver:	n/a	n/a
4	ARID3A	chr10:18855015-18855499	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:18847006-18847183	HepG2	liver:	n/a	n/a
6	ARID3A	chr10:18843485-18843910	HepG2	liver:	n/a	n/a
7	BRCA1	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
9	BRCA1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr10:18854245-18854618	K562	blood:	n/a	n/a
11	CEBPB	chr10:18855132-18855383	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr10:18854418-18854541	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
14	CTCF	chr10:18860127-18860500	K562	blood:	n/a	n/a
15	CUX1	chr10:18860126-18860500	K562	blood:	n/a	n/a
16	ELK1	chr10:18860126-18860499	GM12878	blood:	n/a	n/a
17	ELK1	chr10:18848238-18848610	Hela-S3	cervix:	n/a	n/a
18	EP300	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
19	EP300	chr10:18860126-18860682	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr10:18860127-18860500	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
22	GTF2F1	chr10:18854245-18854445	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
24	GTF2F1	chr10:18860126-18860500	K562	blood:	n/a	n/a
25	IKZF1	chr10:18850718-18859452	GM12878	blood:	n/a	n/a
26	IKZF1	chr10:18845498-18849999	GM12878	blood:	n/a	n/a
27	IKZF1	chr10:18860104-18860520	GM12878	blood:	n/a	n/a
28	IKZF1	chr10:18843536-18844319	GM12878	blood:	n/a	n/a
29	IRF3	chr10:18860126-18860500	GM12878	blood:	n/a	n/a
30	MAFF	chr10:18854245-18854590	K562	blood:	n/a	n/a
31	MAFF	chr10:18860127-18860500	K562	blood:	n/a	n/a
32	MAFK	chr10:18860126-18860499	Hela-S3	cervix:	n/a	n/a
33	MAFK	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr10:18860126-18860500	K562	blood:	n/a	n/a
35	MAZ	chr10:18854248-18854618	K562	blood:	n/a	n/a
36	MAZ	chr10:18860127-18860500	Hela-S3	cervix:	n/a	n/a
37	MAZ	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr10:18854245-18854618	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr10:18848238-18848611	Hela-S3	cervix:	n/a	n/a
40	NRF1	chr10:18860127-18860500	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:18849551-18850584	K562	blood:	n/a	n/a
42	POLR2A	chr10:18852589-18852767	K562	blood:	n/a	n/a
43	POLR2A	chr10:18847509-18847700	K562	blood:	n/a	n/a
44	POLR2A	chr10:18845591-18845617	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr10:18844151-18844413	K562	blood:	n/a	n/a
46	POLR2A	chr10:18856448-18856713	K562	blood:	n/a	n/a
47	POLR2A	chr10:18848825-18849255	K562	blood:	n/a	n/a
48	POLR2A	chr10:18853986-18854095	K562	blood:	n/a	n/a
49	POLR2A	chr10:18856008-18856021	K562	blood:	n/a	n/a
50	POLR2A	chr10:18854830-18855005	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
NSUN6	TF binding region

Extended variants
information (count: 1129 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11014857	chr10:18843332-18843333	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549231535	chr10:18843341-18843342	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs567475391	chr10:18843349-18843350	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10828911	chr10:18843358-18843359	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs547850248	chr10:18843364-18843365	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143943089	chr10:18843388-18843389	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192805346	chr10:18843393-18843394	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557978048	chr10:18843436-18843437	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs147297758	chr10:18843443-18843444	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556005388	chr10:18843467-18843468	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140960350	chr10:18843479-18843480	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540615988	chr10:18843480-18843481	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554988031	chr10:18843548-18843549	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558406652	chr10:18843588-18843589	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558971248	chr10:18843624-18843625	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117022702	chr10:18843638-18843639	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544663855	chr10:18843649-18843650	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563260572	chr10:18843691-18843692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144908501	chr10:18843711-18843712	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548939089	chr10:18843733-18843734	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs144853027	chr10:18843742-18843743	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62648408	chr10:18843750-18843751	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537453974	chr10:18843764-18843765	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148605133	chr10:18843797-18843798	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111068265	chr10:18843830-18843831	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs151159284	chr10:18843834-18843835	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115643719	chr10:18843847-18843848	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149444692	chr10:18843859-18843860	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374287923	chr10:18843860-18843861	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551827617	chr10:18843869-18843870	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201162532	chr10:18843880-18843881	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570083152	chr10:18843943-18843944	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142768961	chr10:18843944-18843945	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537637108	chr10:18843972-18843973	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140201325	chr10:18843974-18843975	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11014859	chr10:18843979-18843980	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs534941692	chr10:18843992-18843993	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138079651	chr10:18843993-18843994	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11014860	chr10:18844014-18844015	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs10828914	chr10:18844045-18844046	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544632897	chr10:18844078-18844079	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557002112	chr10:18844094-18844095	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575284170	chr10:18844119-18844120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542072445	chr10:18844150-18844151	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367889909	chr10:18844152-18844153	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201267513	chr10:18844154-18844155	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184125846	chr10:18844157-18844158	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528301105	chr10:18844219-18844220	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs563249763	chr10:18844224-18844225	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540496819	chr10:18844228-18844229	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:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18815200-18843600	Weak transcription	A549	lung
2	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:18824200-18850600	Weak transcription	NHLF	lung
5	chr10:18827200-18845200	Weak transcription	NHEK	skin
6	chr10:18828600-18843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:18828600-18844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
10	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
11	chr10:18829800-18844000	Weak transcription	Brain Angular Gyrus	brain
12	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
13	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:18830600-18845000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:18830600-18846600	Weak transcription	NH-A	brain
16	chr10:18831000-18846000	Weak transcription	Lung	lung
17	chr10:18831000-18850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:18834400-18847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:18835400-18843600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:18838800-18849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:18840400-18847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:18840600-18851200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr10:18840800-18851000	Weak transcription	Psoas Muscle	Psoas
24	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
25	chr10:18841000-18845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:18841400-18848800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr10:18841600-18843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:18841600-18849600	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr10:18841600-18849800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr10:18841600-18850000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr10:18841600-18850000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:18841600-18850000	ZNF genes & repeats	Fetal Lung	lung
33	chr10:18841600-18851400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr10:18841600-18851800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
35	chr10:18841600-18854600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr10:18841600-18856200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr10:18841800-18843600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr10:18841800-18844800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr10:18841800-18844800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr10:18841800-18847000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr10:18841800-18849600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr10:18841800-18849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:18841800-18850000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr10:18841800-18850000	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr10:18841800-18850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr10:18841800-18853000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr10:18841800-18855400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:18842000-18843400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:18842000-18843400	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:18842000-18843800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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