Variant report

Variant	esv3387188
Chromosome Location	chr10:89743021-89767378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:89751782-89752059	IMR90	lung:	n/a	n/a
2	CEBPB	chr10:89766757-89766839	H1-hESC	embryonic stem cell:	n/a	chr10:89766761-89766772
3	CTCF	chr10:89753433-89753542	Kidney_OC	kidney:	n/a	n/a
4	FOS	chr10:89764254-89764481	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:89764265-89764553	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr10:89764119-89764545	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr10:89744729-89744839	SH-SY5Y	brain:	n/a	n/a
8	IRF1	chr10:89743953-89744044	K562	blood:	n/a	n/a
9	JUND	chr10:89764126-89764520	SK-N-SH	brain:	n/a	n/a
10	MAFF	chr10:89761483-89761788	HepG2	liver:	n/a	chr10:89761631-89761649
11	MAFK	chr10:89761542-89761715	HepG2	liver:	n/a	chr10:89761633-89761648 chr10:89761633-89761649 chr10:89761633-89761644 chr10:89761634-89761645 chr10:89761633-89761644 chr10:89761632-89761646
12	MAFK	chr10:89761520-89761792	HepG2	liver:	n/a	chr10:89761633-89761648 chr10:89761633-89761649 chr10:89761633-89761644 chr10:89761634-89761645 chr10:89761633-89761644 chr10:89761632-89761646
13	MAX	chr10:89761442-89761514	NB4	blood:	n/a	chr10:89761472-89761482
14	POLR2A	chr10:89763198-89763223	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr10:89749653-89749810	A549	lung:	n/a	n/a
16	POLR2A	chr10:89750892-89751042	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:89754690-89754801	GM12878	blood:	n/a	n/a
18	SP1	chr10:89764690-89764931	HepG2	liver:	n/a	n/a
19	STAT1	chr10:89764196-89764635	Hela-S3	cervix:	n/a	chr10:89764382-89764393
20	STAT3	chr10:89764214-89764568	MCF10A-Er-Src	breast:	n/a	chr10:89764382-89764393
21	STAT3	chr10:89764197-89764556	MCF10A-Er-Src	breast:	n/a	chr10:89764382-89764393
22	STAT3	chr10:89761322-89761522	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr10:89764159-89764359	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr10:89751505-89751752	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr10:89764213-89764564	MCF10A-Er-Src	breast:	n/a	chr10:89764382-89764393
26	TAL1	chr10:89746999-89747271	K562	blood:	n/a	n/a
27	TBP	chr10:89752047-89752055	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr10:89751663-89752159	ECC-1	luminal epithelium:	n/a	chr10:89751897-89751906
29	TEAD4	chr10:89746985-89747207	K562	blood:	n/a	n/a
30	ZNF143	chr10:89755709-89755717	Hela-S3	cervix:	n/a	n/a
31	ZNF384	chr10:89745555-89745755	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000200891	TF binding region

Extended variants
information (count: 741 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375777924	chr10:89744002-89744003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76437579	chr10:89744007-89744008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570883376	chr10:89744035-89744036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138881190	chr10:89744056-89744057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553443866	chr10:89744072-89744073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142917077	chr10:89744120-89744121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4639847	chr10:89744172-89744173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535687898	chr10:89744213-89744214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375722980	chr10:89744249-89744250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377193291	chr10:89744266-89744267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150762929	chr10:89744278-89744279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575189905	chr10:89744285-89744286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545373742	chr10:89744299-89744300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563359939	chr10:89744305-89744306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563709680	chr10:89744341-89744342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs644205	chr10:89745814-89745815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538968640	chr10:89745850-89745851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528467419	chr10:89745857-89745858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567417126	chr10:89745884-89745885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568441115	chr10:89745891-89745892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529362029	chr10:89745893-89745894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550810134	chr10:89745916-89745917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374751087	chr10:89745918-89745919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144175916	chr10:89745921-89745922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72814182	chr10:89745960-89745961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116331656	chr10:89745972-89745973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552906750	chr10:89745980-89745981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557626690	chr10:89746089-89746090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371551491	chr10:89746145-89746146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183567352	chr10:89746230-89746231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188053011	chr10:89746376-89746377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72814183	chr10:89746419-89746420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151014251	chr10:89746501-89746502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180913995	chr10:89746552-89746553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544257314	chr10:89746559-89746560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs647416	chr10:89746568-89746569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12264921	chr10:89746609-89746610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544552930	chr10:89746615-89746616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564754714	chr10:89746656-89746657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528809882	chr10:89746666-89746667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540593899	chr10:89746677-89746678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562080618	chr10:89746699-89746700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577896916	chr10:89746719-89746720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529278552	chr10:89746720-89746721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550612361	chr10:89746726-89746727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138353912	chr10:89746732-89746733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569055746	chr10:89746735-89746736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532951478	chr10:89746871-89746872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562619487	chr10:89746879-89746880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551193221	chr10:89746939-89746940	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89744000-89744200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:89744000-89744400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:89744000-89744400	Enhancers	GM12878-XiMat	blood
4	chr10:89744000-89744400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr10:89745800-89747800	Enhancers	Dnd41	blood
6	chr10:89747400-89747800	Enhancers	Fetal Thymus	thymus
7	chr10:89747400-89747800	Enhancers	Thymus	Thymus
8	chr10:89747800-89751000	Weak transcription	Dnd41	blood
9	chr10:89748600-89749000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:89750600-89752000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:89751000-89751400	Enhancers	Dnd41	blood
12	chr10:89751000-89752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:89751200-89751400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr10:89751200-89751800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:89751400-89754800	Weak transcription	Dnd41	blood
16	chr10:89752400-89753000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:89754800-89756400	Enhancers	Dnd41	blood
18	chr10:89758000-89758200	Enhancers	Pancreas	Pancrea
19	chr10:89758000-89758400	ZNF genes & repeats	Aorta	Aorta
20	chr10:89758400-89785800	Weak transcription	Aorta	Aorta
21	chr10:89759400-89761400	Weak transcription	Psoas Muscle	Psoas
22	chr10:89761400-89761600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:89761400-89762000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:89761600-89761800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:89761800-89763200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:89761800-89766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:89762000-89762400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:89762400-89765000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:89762600-89762800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:89762800-89764000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:89763200-89765000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:89764000-89765000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:89764000-89765000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:89764000-89765000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:89764000-89765000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:89764000-89765000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:89764000-89765000	Enhancers	NHDF-Ad	bronchial
38	chr10:89764200-89764600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:89764200-89764600	Enhancers	HMEC	breast
40	chr10:89764200-89764600	Enhancers	NH-A	brain
41	chr10:89764200-89764600	Enhancers	NHEK	skin
42	chr10:89764200-89764800	Enhancers	Osteobl	bone
43	chr10:89764200-89765000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:89764400-89764800	Enhancers	Adipose Nuclei	Adipose
45	chr10:89764400-89764800	Weak transcription	Psoas Muscle	Psoas
46	chr10:89764400-89765000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:89764400-89765000	Enhancers	Placenta	Placenta
48	chr10:89764800-89765000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:89764800-89765000	Enhancers	Psoas Muscle	Psoas
50	chr10:89765000-89766000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links