Variant report

Variant	nsv550421
Chromosome Location	chr10:38739270-38739747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr10:38739168-38739414	K562	blood:	n/a	n/a
2	POLR2A	chr10:38739358-38739643	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38739506-38739556	ovcar-3	ovarian:	n/a
2	chr10:38739506-38739556	ovcar-3	ovarian:	n/a
3	chr10:38739506-38739556	BJ	skin:	n/a
4	chr10:38739506-38739556	U87	brain:	n/a
5	chr10:38739478-38739528	HUVEC	blood vessel:	n/a
6	chr10:38739478-38739528	Hepatocyte	liver:	n/a
7	chr10:38739478-38739528	NH-A	brain:	n/a
8	chr10:38739478-38739528	HCT-116	colon:	n/a
9	chr10:38739506-38739556	ECC-1	luminal epithelium:	n/a
10	chr10:38739506-38739556	Hela-S3	cervix:	n/a
11	chr10:38739506-38739556	HMEC	breast:	n/a
12	chr10:38739506-38739556	BE2_C	brain:	n/a
13	chr10:38739506-38739556	NB4	blood:	n/a
14	chr10:38739478-38739528	SK-N-SH	brain:	n/a
15	chr10:38739478-38739528	GM12891	blood:	n/a
16	chr10:38739478-38739528	ovcar-3	ovarian:	n/a
17	chr10:38739478-38739528	SK-N-MC	brain:	n/a
18	chr10:38739506-38739556	GM12892	blood:	n/a
19	chr10:38739506-38739556	HCF	heart:	n/a
20	chr10:38739478-38739528	HCPEpiC	choroid plexus:	n/a
21	chr10:38739506-38739556	T-47D	breast:	n/a
22	chr10:38739506-38739556	GM12891	blood:	n/a
23	chr10:38739506-38739556	SK-N-MC	brain:	n/a
24	chr10:38739478-38739528	AG04449	skin:	fetal
25	chr10:38739506-38739556	HIPEpiC	eye:	n/a
26	chr10:38739478-38739528	T-47D	breast:	n/a
27	chr10:38739478-38739528	LNCaP	prostate:	n/a
28	chr10:38739478-38739528	PrEC	prostate:	n/a
29	chr10:38739506-38739556	AG09319	gingival:	n/a
30	chr10:38739506-38739556	NHBE	bronchial:	n/a
31	chr10:38739506-38739556	GM06990	blood:	n/a
32	chr10:38739478-38739528	HepG2	liver:	n/a
33	chr10:38739478-38739528	PFSK-1	brain:	n/a
34	chr10:38739478-38739528	NT2-D1	testis:	n/a
35	chr10:38739506-38739556	Jurkat	blood:	n/a
36	chr10:38739478-38739528	CMK	blood:	n/a
37	chr10:38739506-38739556	Hepatocyte	liver:	n/a
38	chr10:38739506-38739556	HEEpiC	esophagus:	n/a
39	chr10:38739478-38739528	RPTEC	kidney:	n/a
40	chr10:38739478-38739528	Caco-2	colon:	n/a
41	chr10:38739478-38739528	SKMC	muscle:	n/a
42	chr10:38739506-38739556	NHDF-neo	bronchial:	n/a
43	chr10:38739478-38739528	SK-N-SH_RA	brain:	n/a
44	chr10:38739478-38739528	U87	brain:	n/a
45	chr10:38739506-38739556	GM12878	blood:	n/a
46	chr10:38739478-38739528	HRPEpiC	eye:	n/a
47	chr10:38739478-38739528	HRCEpiC	kidney:	n/a
48	chr10:38739506-38739556	HRPEpiC	eye:	n/a
49	chr10:38739506-38739556	PANC-1	pancreas:	n/a
50	chr10:38739478-38739528	A549	lung:	n/a

No data

Variant related genes	Relation type
ENSG00000203496	TF binding region
ENSG00000203496	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17611608	chr10:38739270-38739271	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs17611615	chr10:38739274-38739275	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs568491205	chr10:38739284-38739285	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537410951	chr10:38739290-38739291	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs17595695	chr10:38739296-38739297	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs17595702	chr10:38739310-38739311	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs17595709	chr10:38739313-38739314	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17595716	chr10:38739314-38739315	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs17611622	chr10:38739323-38739324	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2754384	chr10:38739333-38739334	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185353331	chr10:38739350-38739351	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539684289	chr10:38739351-38739352	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs553515046	chr10:38739353-38739354	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572630259	chr10:38739383-38739384	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs17611629	chr10:38739392-38739393	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs17611636	chr10:38739406-38739407	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541546038	chr10:38739408-38739409	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555009481	chr10:38739409-38739410	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574903030	chr10:38739411-38739412	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189011452	chr10:38739421-38739422	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs193133980	chr10:38739426-38739427	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs17611643	chr10:38739427-38739428	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17595723	chr10:38739430-38739431	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538245621	chr10:38739432-38739433	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs17595730	chr10:38739447-38739448	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs17595737	chr10:38739456-38739457	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183544710	chr10:38739458-38739459	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs17595743	chr10:38739459-38739460	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560275478	chr10:38739465-38739466	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376486337	chr10:38739468-38739469	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529073226	chr10:38739473-38739474	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112074644	chr10:38739479-38739480	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs568517465	chr10:38739514-38739515	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs76992158	chr10:38739520-38739521	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs113668599	chr10:38739532-38739533	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs572024249	chr10:38739545-38739546	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs550940431	chr10:38739555-38739556	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs139944420	chr10:38739556-38739557	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs17611650	chr10:38739557-38739558	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540102929	chr10:38739562-38739563	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs553361448	chr10:38739596-38739597	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181063892	chr10:38739609-38739610	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574267322	chr10:38739636-38739637	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11011564	chr10:38739638-38739639	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144837921	chr10:38739647-38739648	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575772623	chr10:38739662-38739663	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537489661	chr10:38739679-38739680	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557713301	chr10:38739681-38739682	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577892733	chr10:38739699-38739700	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2804650	chr10:38739704-38739705	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38692200-38741000	Weak transcription	Aorta	Aorta
2	chr10:38692400-38739600	Weak transcription	Gastric	stomach
3	chr10:38692800-38741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:38700200-38739600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr10:38711200-38739600	Weak transcription	Adipose Nuclei	Adipose
6	chr10:38723400-38739400	Weak transcription	Brain Angular Gyrus	brain
7	chr10:38724800-38739600	Weak transcription	Fetal Lung	lung
8	chr10:38726400-38739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:38727800-38740600	Weak transcription	Psoas Muscle	Psoas
10	chr10:38733400-38739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:38734400-38740000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:38735400-38739600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr10:38736800-38740600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:38737000-38739400	Weak transcription	NHLF	lung
15	chr10:38737200-38739800	Strong transcription	Brain Hippocampus Middle	brain
16	chr10:38737200-38739800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr10:38737200-38740400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:38737800-38739400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:38737800-38739600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr10:38738000-38739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:38738000-38739600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:38738000-38739600	Weak transcription	Placenta	Placenta
23	chr10:38738200-38739800	Weak transcription	Primary T cells from cord blood	blood
24	chr10:38738200-38739800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:38738200-38739800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:38738400-38739400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:38738400-38739400	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:38738400-38739400	Weak transcription	Spleen	Spleen
29	chr10:38738400-38739600	Weak transcription	Fetal Intestine Small	intestine
30	chr10:38738400-38739600	Weak transcription	Ovary	ovary
31	chr10:38738400-38740000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:38738400-38740000	Weak transcription	Liver	Liver
33	chr10:38738400-38740000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:38738400-38740000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:38738400-38740000	Weak transcription	Right Ventricle	heart
36	chr10:38738400-38741200	Weak transcription	Brain Anterior Caudate	brain
37	chr10:38738400-38742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:38738600-38740600	Weak transcription	Pancreas	Pancrea
39	chr10:38738800-38740400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:38738800-38740400	Weak transcription	Thymus	Thymus
41	chr10:38738800-38741200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:38739000-38739400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:38739000-38739400	Weak transcription	Lung	lung
44	chr10:38739400-38739800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
45	chr10:38739400-38739800	ZNF genes & repeats	Lung	lung
46	chr10:38739400-38739800	ZNF genes & repeats	Spleen	Spleen
47	chr10:38739400-38740000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:38739400-38740000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:38739400-38740400	Strong transcription	Fetal Muscle Leg	muscle
50	chr10:38739400-38740800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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