Variant report

Variant	esv3389847
Chromosome Location	chr10:1404177-1406725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:1403408-1404517	SK-N-SH	brain:	n/a	chr10:1403478-1403492
2	EP300	chr10:1404040-1404249	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr10:1406616-1407163	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr10:1406630-1407117	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:1406627-1407170	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:1406535-1407097	MCF10A-Er-Src	breast:	n/a	chr10:1406567-1406578
7	GABPA	chr10:1405622-1406081	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA2	chr10:1403669-1404406	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr10:1403904-1404338	SH-SY5Y	brain:	n/a	n/a
10	MYC	chr10:1406710-1407179	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr10:1406648-1407169	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:1404620-1404804	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:1405462-1405464	MCF-7	breast:	n/a	n/a
14	POLR2A	chr10:1404862-1405012	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:1404808-1404810	MCF-7	breast:	n/a	n/a
16	POLR2A	chr10:1405860-1405917	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:1405885-1405893	MCF-7	breast:	n/a	n/a
18	POLR2A	chr10:1405293-1405446	MCF-7	breast:	n/a	n/a
19	STAT3	chr10:1406625-1407116	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr10:1406625-1407160	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr10:1406629-1407110	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr10:1406629-1407037	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:1406508-1406558	AG04450	lung:	fetal
2	chr10:1406508-1406558	HUVEC	blood vessel:	n/a
3	chr10:1406218-1406268	HAEpiC	amniotic membrane:	n/a
4	chr10:1406508-1406558	PFSK-1	brain:	n/a
5	chr10:1405937-1405987	PFSK-1	brain:	n/a
6	chr10:1406218-1406268	SKMC	muscle:	n/a
7	chr10:1405937-1405987	H1-hESC	embryonic stem cell:	embryo
8	chr10:1406508-1406558	RPTEC	kidney:	n/a
9	chr10:1405937-1405987	HEEpiC	esophagus:	n/a
10	chr10:1405193-1405243	GM19239	blood:	n/a
11	chr10:1406508-1406558	GM12891	blood:	n/a
12	chr10:1406508-1406558	AG04449	skin:	fetal
13	chr10:1404828-1404878	BJ	skin:	n/a
14	chr10:1405937-1405987	Jurkat	blood:	n/a
15	chr10:1404828-1404878	HCPEpiC	choroid plexus:	n/a
16	chr10:1404828-1404878	RPTEC	kidney:	n/a
17	chr10:1406508-1406558	NB4	blood:	n/a
18	chr10:1405937-1405987	ovcar-3	ovarian:	n/a
19	chr10:1406508-1406558	MCF-7	breast:	n/a
20	chr10:1405937-1405987	HCPEpiC	choroid plexus:	n/a
21	chr10:1405193-1405243	AG04449	skin:	fetal
22	chr10:1406508-1406558	ECC-1	luminal epithelium:	n/a
23	chr10:1405193-1405243	HEK293	kidney:	embryo
24	chr10:1405937-1405987	PrEC	prostate:	n/a
25	chr10:1405193-1405243	ECC-1	luminal epithelium:	n/a
26	chr10:1405193-1405243	BE2_C	brain:	n/a
27	chr10:1404828-1404878	K562	blood:	n/a
28	chr10:1406218-1406268	ECC-1	luminal epithelium:	n/a
29	chr10:1405193-1405243	PANC-1	pancreas:	n/a
30	chr10:1405937-1405987	HRPEpiC	eye:	n/a
31	chr10:1405937-1405987	HL-60	blood:	n/a
32	chr10:1405937-1405987	NHDF-neo	bronchial:	n/a
33	chr10:1404828-1404878	A549	lung:	n/a
34	chr10:1406508-1406558	LNCaP	prostate:	n/a
35	chr10:1405193-1405243	H1-hESC	embryonic stem cell:	embryo
36	chr10:1406218-1406268	MCF-7	breast:	n/a
37	chr10:1406218-1406268	SAEC	small airway:	n/a
38	chr10:1406508-1406558	Hepatocyte	liver:	n/a
39	chr10:1404828-1404878	SAEC	small airway:	n/a
40	chr10:1405193-1405243	AG09319	gingival:	n/a
41	chr10:1405193-1405243	SKMC	muscle:	n/a
42	chr10:1406218-1406268	SK-N-SH	brain:	n/a
43	chr10:1405193-1405243	IMR90	lung:	fetal
44	chr10:1405937-1405987	AG09309	skin:	n/a
45	chr10:1405193-1405243	NHBE	bronchial:	n/a
46	chr10:1405937-1405987	U87	brain:	n/a
47	chr10:1405937-1405987	BJ	skin:	n/a
48	chr10:1406218-1406268	AG04449	skin:	fetal
49	chr10:1404828-1404878	GM12878	blood:	n/a
50	chr10:1405937-1405987	GM12878	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1367350..1368940-chr10:1404924..1406543,2	MCF-7	breast:
2	chr10:1404694..1406210-chr10:1406696..1409413,2	MCF-7	breast:
3	chr10:1401821..1403761-chr10:1404646..1408124,3	MCF-7	breast:
4	chr10:1405933..1409166-chr10:1409590..1411294,4	MCF-7	breast:
5	chr10:1404694..1406210-chr10:1406696..1409413,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233052	TF binding region
ENSG00000233052	CpG island

Extended variants
information (count: 117 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192038323	chr10:1404178-1404179	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4880831	chr10:1404193-1404194	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574294255	chr10:1404207-1404208	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4880832	chr10:1404284-1404285	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11250459	chr10:1404294-1404295	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200961547	chr10:1404308-1404309	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11250460	chr10:1404314-1404315	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181747120	chr10:1404343-1404344	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564640972	chr10:1404356-1404357	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554340531	chr10:1404388-1404389	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544411583	chr10:1404389-1404390	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374008809	chr10:1404391-1404392	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2805574	chr10:1404413-1404414	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533816018	chr10:1404453-1404454	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11250461	chr10:1404502-1404503	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144484853	chr10:1404517-1404518	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551853514	chr10:1404541-1404542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146649490	chr10:1404564-1404565	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs374907303	chr10:1404574-1404575	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs186768919	chr10:1404587-1404588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34555167	chr10:1404621-1404622	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34750838	chr10:1404625-1404626	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139457895	chr10:1404630-1404631	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2805575	chr10:1404665-1404666	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112499283	chr10:1404675-1404676	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs116339990	chr10:1404743-1404744	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73576647	chr10:1404754-1404755	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558195498	chr10:1404787-1404788	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575029713	chr10:1404830-1404831	Weak transcription Enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs544052859	chr10:1404856-1404857	Weak transcription Enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs34143279	chr10:1404862-1404863	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs550057628	chr10:1404883-1404884	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569942809	chr10:1404918-1404919	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191262253	chr10:1404941-1404942	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560466975	chr10:1404961-1404962	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74119497	chr10:1404975-1404976	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs56247784	chr10:1404983-1404984	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11250462	chr10:1405007-1405008	Weak transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530412306	chr10:1405048-1405049	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78666830	chr10:1405081-1405082	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550891672	chr10:1405116-1405117	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2387652	chr10:1405164-1405165	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536456518	chr10:1405179-1405180	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs534708037	chr10:1405205-1405206	Weak transcription Genic enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs367895192	chr10:1405209-1405210	Weak transcription Genic enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs546859961	chr10:1405214-1405215	Weak transcription Genic enhancers ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs566838000	chr10:1405245-1405246	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372626311	chr10:1405265-1405266	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376154657	chr10:1405271-1405272	Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558158478	chr10:1405301-1405302	Weak transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1400200-1404600	Enhancers	Dnd41	blood
2	chr10:1401200-1404600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:1401800-1404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:1402400-1404400	Bivalent Enhancer	Fetal Lung	lung
5	chr10:1403000-1404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:1403000-1404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1403400-1404600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:1403400-1410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:1403600-1404400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:1403800-1404200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:1404000-1405800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:1404000-1410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:1404400-1404800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr10:1404600-1406800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:1404600-1410200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:1404800-1405000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
18	chr10:1405000-1406600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1405600-1405800	Bivalent Enhancer	Right Ventricle	heart
20	chr10:1405600-1406000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:1405800-1406000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr10:1405800-1406000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:1405800-1406400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:1406000-1406800	Enhancers	Esophagus	oesophagus
25	chr10:1406200-1406400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:1406400-1406800	Enhancers	NHEK	skin
27	chr10:1406400-1407000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:1406400-1410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:1406600-1410200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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