Variant report

Variant	esv32721
Chromosome Location	chr10:43328713-43330061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr10:43328734-43329005	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:43328883-43329024	MCF-7	breast:	n/a	n/a
3	POLR2A	chr10:43328780-43329247	GM12891	blood:	n/a	n/a
4	POLR2A	chr10:43329056-43329200	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr10:43328894-43329029	Gliobla	brain:	n/a	n/a
6	POLR2A	chr10:43328912-43328965	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:43329116-43329139	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:43328786-43329220	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:43328789-43329192	K562	blood:	n/a	n/a
10	POLR2A	chr10:43328782-43329438	K562	blood:	n/a	n/a
11	POLR2A	chr10:43329039-43329175	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:43328785-43328873	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr10:43328824-43329188	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:43329030-43329038	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43329092-43329142	HNPCEpiC	eye:	n/a
2	chr10:43329092-43329142	LNCaP	prostate:	n/a
3	chr10:43329092-43329142	GM19239	blood:	n/a
4	chr10:43329092-43329142	HCF	heart:	n/a
5	chr10:43329092-43329142	RPTEC	kidney:	n/a
6	chr10:43329092-43329142	AG09309	skin:	n/a
7	chr10:43329092-43329142	HAEpiC	amniotic membrane:	n/a
8	chr10:43329092-43329142	Jurkat	blood:	n/a
9	chr10:43329092-43329142	U87	brain:	n/a
10	chr10:43329092-43329142	T-47D	breast:	n/a
11	chr10:43329092-43329142	CMK	blood:	n/a
12	chr10:43329092-43329142	NHDF-neo	bronchial:	n/a
13	chr10:43329092-43329142	HPAEpiC	pulmonary alveolar:	n/a
14	chr10:43329092-43329142	SK-N-MC	brain:	n/a
15	chr10:43329092-43329142	PrEC	prostate:	n/a
16	chr10:43329092-43329142	Caco-2	colon:	n/a
17	chr10:43329092-43329142	AG09319	gingival:	n/a
18	chr10:43329092-43329142	SK-N-SH_RA	brain:	n/a
19	chr10:43329092-43329142	HCT-116	colon:	n/a
20	chr10:43329092-43329142	HIPEpiC	eye:	n/a
21	chr10:43329092-43329142	HEK293	kidney:	embryo
22	chr10:43329092-43329142	AG10803	skin:	n/a
23	chr10:43329092-43329142	ECC-1	luminal epithelium:	n/a
24	chr10:43329092-43329142	PANC-1	pancreas:	n/a
25	chr10:43329092-43329142	A549	lung:	n/a
26	chr10:43329092-43329142	HepG2	liver:	n/a
27	chr10:43329092-43329142	SK-N-SH	brain:	n/a
28	chr10:43329092-43329142	SKMC	muscle:	n/a
29	chr10:43329092-43329142	HRE	kidney:	n/a
30	chr10:43329092-43329142	H1-hESC	embryonic stem cell:	embryo
31	chr10:43329092-43329142	PFSK-1	brain:	n/a
32	chr10:43329092-43329142	MCF10A-Er-Src	breast:	n/a
33	chr10:43329092-43329142	NT2-D1	testis:	n/a
34	chr10:43329092-43329142	BE2_C	brain:	n/a
35	chr10:43329092-43329142	AG04449	skin:	fetal
36	chr10:43329092-43329142	SAEC	small airway:	n/a
37	chr10:43329092-43329142	HRCEpiC	kidney:	n/a
38	chr10:43329092-43329142	IMR90	lung:	fetal
39	chr10:43329092-43329142	Hela-S3	cervix:	n/a
40	chr10:43329092-43329142	GM06990	blood:	n/a
41	chr10:43329092-43329142	Hepatocyte	liver:	n/a
42	chr10:43329092-43329142	AG04450	lung:	fetal
43	chr10:43329092-43329142	HMEC	breast:	n/a
44	chr10:43329092-43329142	HCPEpiC	choroid plexus:	n/a
45	chr10:43329092-43329142	ProgFib	skin:	n/a
46	chr10:43329092-43329142	HL-60	blood:	n/a
47	chr10:43329092-43329142	HRPEpiC	eye:	n/a
48	chr10:43329092-43329142	GM12891	blood:	n/a
49	chr10:43329092-43329142	NH-A	brain:	n/a
50	chr10:43329092-43329142	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
RNU6-885P	TF binding region
RNU6-885P	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570192457	chr10:43328713-43328714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61844835	chr10:43328720-43328721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200513807	chr10:43328776-43328777	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189477587	chr10:43328794-43328795	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370679442	chr10:43328798-43328799	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181530913	chr10:43328821-43328822	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185790096	chr10:43328823-43328824	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143772750	chr10:43328852-43328853	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188893120	chr10:43328857-43328858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373802404	chr10:43328858-43328859	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571679489	chr10:43328883-43328884	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61844836	chr10:43328899-43328900	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35229973	chr10:43328937-43328938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs398013299	chr10:43328938-43328939	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376555236	chr10:43328951-43328952	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73254277	chr10:43329016-43329017	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539072624	chr10:43329035-43329036	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs117397195	chr10:43329038-43329039	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs562520454	chr10:43329043-43329044	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201215639	chr10:43329054-43329055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181628192	chr10:43329114-43329115	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs376992587	chr10:43329121-43329122	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs543598244	chr10:43329174-43329175	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561686793	chr10:43329180-43329181	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113190084	chr10:43329188-43329189	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541301535	chr10:43329214-43329215	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs34879863	chr10:43329221-43329222	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147323016	chr10:43329238-43329239	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533343692	chr10:43329245-43329246	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201579421	chr10:43329264-43329265	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369096840	chr10:43329286-43329287	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551835039	chr10:43329316-43329317	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563764126	chr10:43329333-43329334	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147344587	chr10:43329366-43329367	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139571775	chr10:43329367-43329368	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186413738	chr10:43329459-43329460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535241880	chr10:43329529-43329530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192511896	chr10:43329560-43329561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571638873	chr10:43329618-43329619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539035908	chr10:43329656-43329657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140142987	chr10:43329693-43329694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557375429	chr10:43329695-43329696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373416943	chr10:43329697-43329698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575994375	chr10:43329711-43329712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536709194	chr10:43329735-43329736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144044483	chr10:43329739-43329740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386743151	chr10:43329751-43329752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28508417	chr10:43329753-43329754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3758517	chr10:43329770-43329771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113881837	chr10:43329783-43329784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
3	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
4	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
7	chr10:43314600-43329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:43320000-43329000	Weak transcription	Fetal Heart	heart
9	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
13	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
14	chr10:43323800-43329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:43324000-43331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:43325000-43329400	Strong transcription	Dnd41	blood
17	chr10:43325400-43329200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:43325400-43329200	Strong transcription	Primary T cells from cord blood	blood
19	chr10:43325800-43329400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:43326200-43329400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:43326400-43329800	Weak transcription	HSMMtube	muscle
22	chr10:43326400-43332200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:43326600-43329800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:43326600-43330000	Weak transcription	K562	blood
25	chr10:43326600-43331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:43326800-43330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:43326800-43331000	Weak transcription	Fetal Brain Male	brain
28	chr10:43326800-43331400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:43326800-43331600	Weak transcription	Aorta	Aorta
30	chr10:43326800-43331600	Weak transcription	Fetal Intestine Small	intestine
31	chr10:43326800-43331800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:43326800-43332000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:43326800-43332200	Weak transcription	Brain Anterior Caudate	brain
34	chr10:43326800-43332200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:43326800-43332200	Weak transcription	NHEK	skin
36	chr10:43326800-43332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:43327000-43329600	Weak transcription	GM12878-XiMat	blood
38	chr10:43327000-43332000	Weak transcription	Colonic Mucosa	Colon
39	chr10:43327200-43328800	Weak transcription	Hela-S3	cervix
40	chr10:43327200-43332000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:43327200-43332200	Weak transcription	NH-A	brain
42	chr10:43327200-43332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:43327200-43332800	Weak transcription	Spleen	Spleen
44	chr10:43327400-43331200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr10:43327400-43331400	Weak transcription	Brain Germinal Matrix	brain
46	chr10:43327400-43332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:43327400-43332200	Weak transcription	Fetal Kidney	kidney
48	chr10:43327400-43332200	Weak transcription	HepG2	liver
49	chr10:43327400-43332200	Weak transcription	NHLF	lung
50	chr10:43327600-43330200	Weak transcription	Fetal Lung	lung

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