Variant report

Variant	esv1846370
Chromosome Location	chr10:43327115-43330365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:43327236-43327383	K562	blood:	n/a	n/a
2	FOXA1	chr10:43328734-43329005	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:43327327-43328303	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:43328334-43328364	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr10:43327973-43328227	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr10:43327867-43328337	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr10:43327797-43328297	GM12891	blood:	n/a	n/a
8	POLR2A	chr10:43328786-43329220	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:43329030-43329038	MCF-7	breast:	n/a	n/a
10	POLR2A	chr10:43328912-43328965	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:43328894-43329029	Gliobla	brain:	n/a	n/a
12	POLR2A	chr10:43327904-43328237	K562	blood:	n/a	n/a
13	POLR2A	chr10:43327883-43328307	GM12891	blood:	n/a	n/a
14	POLR2A	chr10:43327828-43328248	GM12891	blood:	n/a	n/a
15	POLR2A	chr10:43327713-43327714	K562	blood:	n/a	n/a
16	POLR2A	chr10:43327475-43327486	K562	blood:	n/a	n/a
17	POLR2A	chr10:43329116-43329139	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:43328883-43329024	MCF-7	breast:	n/a	n/a
19	POLR2A	chr10:43327438-43327626	K562	blood:	n/a	n/a
20	POLR2A	chr10:43327877-43328245	K562	blood:	n/a	n/a
21	POLR2A	chr10:43328789-43329192	K562	blood:	n/a	n/a
22	POLR2A	chr10:43328782-43329438	K562	blood:	n/a	n/a
23	POLR2A	chr10:43327855-43328430	K562	blood:	n/a	n/a
24	POLR2A	chr10:43327624-43327656	ProgFib	skin:	n/a	n/a
25	POLR2A	chr10:43327628-43328156	K562	blood:	n/a	n/a
26	POLR2A	chr10:43327627-43327822	K562	blood:	n/a	n/a
27	POLR2A	chr10:43328110-43328219	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr10:43327704-43327706	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:43327421-43327617	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr10:43327538-43327567	K562	blood:	n/a	n/a
31	POLR2A	chr10:43328780-43329247	GM12891	blood:	n/a	n/a
32	POLR2A	chr10:43327338-43327480	K562	blood:	n/a	n/a
33	POLR2A	chr10:43327726-43327798	K562	blood:	n/a	n/a
34	POLR2A	chr10:43329039-43329175	MCF-7	breast:	n/a	n/a
35	POLR2A	chr10:43328824-43329188	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:43328785-43328873	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr10:43329056-43329200	Hela-S3	cervix:	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	HCM	heart:	n/a
2	chr10:43329092-43329142	U87	brain:	n/a
3	chr10:43329092-43329142	PFSK-1	brain:	n/a
4	chr10:43329092-43329142	GM06990	blood:	n/a
5	chr10:43329092-43329142	NHBE	bronchial:	n/a
6	chr10:43329092-43329142	NB4	blood:	n/a
7	chr10:43329092-43329142	NH-A	brain:	n/a
8	chr10:43329092-43329142	HEEpiC	esophagus:	n/a
9	chr10:43329092-43329142	SK-N-SH	brain:	n/a
10	chr10:43329092-43329142	K562	blood:	n/a
11	chr10:43329092-43329142	MCF10A-Er-Src	breast:	n/a
12	chr10:43329092-43329142	IMR90	lung:	fetal
13	chr10:43329092-43329142	HCT-116	colon:	n/a
14	chr10:43329092-43329142	AoSMC	blood vessel:	n/a
15	chr10:43329092-43329142	HCF	heart:	n/a
16	chr10:43329092-43329142	T-47D	breast:	n/a
17	chr10:43329092-43329142	H1-hESC	embryonic stem cell:	embryo
18	chr10:43329092-43329142	PrEC	prostate:	n/a
19	chr10:43329092-43329142	PANC-1	pancreas:	n/a
20	chr10:43329092-43329142	HNPCEpiC	eye:	n/a
21	chr10:43329092-43329142	HL-60	blood:	n/a
22	chr10:43329092-43329142	GM19239	blood:	n/a
23	chr10:43329092-43329142	AG09309	skin:	n/a
24	chr10:43329092-43329142	HUVEC	blood vessel:	n/a
25	chr10:43329092-43329142	HPAEpiC	pulmonary alveolar:	n/a
26	chr10:43329092-43329142	AG09319	gingival:	n/a
27	chr10:43329092-43329142	RPTEC	kidney:	n/a
28	chr10:43329092-43329142	BJ	skin:	n/a
29	chr10:43329092-43329142	SK-N-SH_RA	brain:	n/a
30	chr10:43329092-43329142	Hepatocyte	liver:	n/a
31	chr10:43329092-43329142	HMEC	breast:	n/a
32	chr10:43329092-43329142	SK-N-MC	brain:	n/a
33	chr10:43329092-43329142	BE2_C	brain:	n/a
34	chr10:43329092-43329142	A549	lung:	n/a
35	chr10:43329092-43329142	Hela-S3	cervix:	n/a
36	chr10:43329092-43329142	HIPEpiC	eye:	n/a
37	chr10:43329092-43329142	GM12878	blood:	n/a
38	chr10:43329092-43329142	AG04449	skin:	fetal
39	chr10:43329092-43329142	NT2-D1	testis:	n/a
40	chr10:43329092-43329142	Jurkat	blood:	n/a
41	chr10:43329092-43329142	GM12892	blood:	n/a
42	chr10:43329092-43329142	HAEpiC	amniotic membrane:	n/a
43	chr10:43329092-43329142	SKMC	muscle:	n/a
44	chr10:43329092-43329142	ProgFib	skin:	n/a
45	chr10:43329092-43329142	NHDF-neo	bronchial:	n/a
46	chr10:43329092-43329142	ovcar-3	ovarian:	n/a
47	chr10:43329092-43329142	AG10803	skin:	n/a
48	chr10:43329092-43329142	HRCEpiC	kidney:	n/a
49	chr10:43329092-43329142	HCPEpiC	choroid plexus:	n/a
50	chr10:43329092-43329142	HRE	kidney:	n/a

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BMS1	hsa-miR-30a-5p	chr10:43327447-43327468

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

Extended variants
information (count: 148 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570409410	chr10:43327215-43327216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537699911	chr10:43327229-43327230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111535934	chr10:43327256-43327257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568406071	chr10:43327287-43327288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61844834	chr10:43327294-43327295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75734052	chr10:43327296-43327297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556753780	chr10:43327344-43327345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113925789	chr10:43327374-43327375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113721691	chr10:43327383-43327384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187249437	chr10:43327431-43327432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7894010	chr10:43327505-43327506	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545808971	chr10:43327535-43327536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138984886	chr10:43327544-43327545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540030619	chr10:43327545-43327546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192177467	chr10:43327558-43327559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56085448	chr10:43327570-43327571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544056025	chr10:43327589-43327590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555801111	chr10:43327610-43327611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150912444	chr10:43327641-43327642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541448846	chr10:43327644-43327645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200191310	chr10:43327668-43327669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554975459	chr10:43327705-43327706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560178170	chr10:43327709-43327710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377111456	chr10:43327777-43327778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527429837	chr10:43327795-43327796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6593498	chr10:43327797-43327798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563897298	chr10:43327798-43327799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111735060	chr10:43327843-43327844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531418287	chr10:43327851-43327852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200736724	chr10:43327873-43327874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528985968	chr10:43327883-43327884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55818372	chr10:43327884-43327885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550019246	chr10:43327908-43327909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201656232	chr10:43327920-43327921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11239788	chr10:43327972-43327973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76027098	chr10:43327991-43327992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547513334	chr10:43327996-43327997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139691694	chr10:43328018-43328019	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs55930857	chr10:43328022-43328023	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184516095	chr10:43328031-43328032	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6593499	chr10:43328037-43328038	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570229506	chr10:43328047-43328048	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537269365	chr10:43328054-43328055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556005304	chr10:43328055-43328056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142626723	chr10:43328087-43328088	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs541804716	chr10:43328091-43328092	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566352907	chr10:43328110-43328111	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553303239	chr10:43328119-43328120	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113604728	chr10:43328250-43328251	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112367237	chr10:43328258-43328259	Weak transcription Strong transcription	TF binding region	1 gene(s)	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:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
4	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
6	chr10:43310400-43327400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:43311600-43328200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:43312000-43328400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
12	chr10:43314600-43329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:43317800-43328200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:43317800-43328200	Strong transcription	Fetal Intestine Large	intestine
15	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr10:43318200-43327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:43320000-43329000	Weak transcription	Fetal Heart	heart
19	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:43320400-43328400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:43321600-43328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:43321800-43328200	Strong transcription	Fetal Stomach	stomach
25	chr10:43322200-43328200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
27	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
28	chr10:43323800-43329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:43324000-43331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:43325000-43327600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:43325000-43328200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:43325000-43328200	Strong transcription	Lung	lung
33	chr10:43325000-43328200	Strong transcription	Thymus	Thymus
34	chr10:43325000-43328400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:43325000-43328400	Strong transcription	Fetal Brain Female	brain
36	chr10:43325000-43328400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr10:43325000-43329400	Strong transcription	Dnd41	blood
38	chr10:43325200-43327600	Strong transcription	HUVEC	blood vessel
39	chr10:43325200-43328200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr10:43325200-43328200	Strong transcription	Fetal Muscle Leg	muscle
41	chr10:43325400-43327200	Strong transcription	NH-A	brain
42	chr10:43325400-43327400	Strong transcription	Brain Germinal Matrix	brain
43	chr10:43325400-43327400	Strong transcription	HepG2	liver
44	chr10:43325400-43327600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:43325400-43327600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr10:43325400-43327600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:43325400-43327600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:43325400-43327600	Strong transcription	Osteobl	bone
49	chr10:43325400-43327800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:43325400-43327800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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