Variant report

Variant	nsv982874
Chromosome Location	chr10:38092839-38111415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:123)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:38101317-38101546	HepG2	liver:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
2	CEBPB	chr10:38096977-38097023	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:38101307-38101607	K562	blood:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
4	CEBPB	chr10:38101310-38101547	A549	lung:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
5	CEBPB	chr10:38101263-38101605	HepG2	liver:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
6	CEBPB	chr10:38101289-38101620	HepG2	liver:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
7	CEBPB	chr10:38101262-38101636	HepG2	liver:	n/a	chr10:38101488-38101499 chr10:38101440-38101451
8	CEBPD	chr10:38101365-38101511	HepG2	liver:	n/a	n/a
9	CTCF	chr10:38101280-38101430	NB4	blood:	n/a	n/a
10	CTCF	chr10:38109616-38109659	GM13976	blood:	n/a	n/a
11	CTCF	chr10:38099700-38099850	NB4	blood:	n/a	n/a
12	EP300	chr10:38101289-38101681	HepG2	liver:	n/a	n/a
13	EP300	chr10:38101169-38101725	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:38101176-38101558	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:38101160-38101567	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:38101149-38101679	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:38101259-38101535	HepG2	liver:	n/a	n/a
18	FOXA2	chr10:38101275-38101556	HepG2	liver:	n/a	n/a
19	GATA2	chr10:38108635-38109411	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr10:38108662-38109243	SH-SY5Y	brain:	n/a	chr10:38108913-38108921
21	GATA3	chr10:38103536-38103674	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr10:38107913-38108175	SH-SY5Y	brain:	n/a	n/a
23	HDAC2	chr10:38101253-38101608	HepG2	liver:	n/a	n/a
24	HNF4A	chr10:38110167-38110530	HepG2	liver:	n/a	chr10:38110337-38110352
25	HNF4A	chr10:38110166-38110524	HepG2	liver:	n/a	chr10:38110337-38110352
26	HNF4G	chr10:38110204-38110489	HepG2	liver:	n/a	chr10:38110336-38110351
27	JUND	chr10:38096966-38097170	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:38111176-38111320	K562	blood:	n/a	n/a
29	POLR2A	chr10:38110271-38110389	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:38105115-38105237	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:38109226-38109361	ProgFib	skin:	n/a	n/a
32	POLR2A	chr10:38105530-38105688	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:38110834-38111152	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:38107605-38107656	GM12878	blood:	n/a	n/a
35	SETDB1	chr10:38102669-38103173	U2OS	brain:	n/a	n/a
36	TCF7L2	chr10:38101277-38101687	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38109876-38109926	IMR90	lung:	fetal
2	chr10:38109876-38109926	IMR90	lung:	fetal
3	chr10:38109876-38109926	MCF10A-Er-Src	breast:	n/a
4	chr10:38109879-38109929	BE2_C	brain:	n/a
5	chr10:38109876-38109926	CMK	blood:	n/a
6	chr10:38109876-38109926	HPAEpiC	pulmonary alveolar:	n/a
7	chr10:38109876-38109926	NHBE	bronchial:	n/a
8	chr10:38109879-38109929	HNPCEpiC	eye:	n/a
9	chr10:38109879-38109929	AG09309	skin:	n/a
10	chr10:38109879-38109929	SK-N-SH	brain:	n/a
11	chr10:38109876-38109926	NB4	blood:	n/a
12	chr10:38109879-38109929	AG04450	lung:	fetal
13	chr10:38109876-38109926	HEEpiC	esophagus:	n/a
14	chr10:38109876-38109926	HepG2	liver:	n/a
15	chr10:38109876-38109926	Hepatocyte	liver:	n/a
16	chr10:38109879-38109929	NB4	blood:	n/a
17	chr10:38109876-38109926	AG04450	lung:	fetal
18	chr10:38109876-38109926	HEK293	kidney:	embryo
19	chr10:38109879-38109929	ECC-1	luminal epithelium:	n/a
20	chr10:38109876-38109926	HCPEpiC	choroid plexus:	n/a
21	chr10:38109879-38109929	ProgFib	skin:	n/a
22	chr10:38109879-38109929	SKMC	muscle:	n/a
23	chr10:38109879-38109929	AG10803	skin:	n/a
24	chr10:38109879-38109929	SK-N-MC	brain:	n/a
25	chr10:38109876-38109926	A549	lung:	n/a
26	chr10:38109879-38109929	BJ	skin:	n/a
27	chr10:38109879-38109929	HepG2	liver:	n/a
28	chr10:38109876-38109926	K562	blood:	n/a
29	chr10:38109879-38109929	NT2-D1	testis:	n/a
30	chr10:38109879-38109929	HL-60	blood:	n/a
31	chr10:38109876-38109926	H1-hESC	embryonic stem cell:	embryo
32	chr10:38109876-38109926	HRPEpiC	eye:	n/a
33	chr10:38109879-38109929	HEK293	kidney:	embryo
34	chr10:38109876-38109926	Hela-S3	cervix:	n/a
35	chr10:38109876-38109926	NT2-D1	testis:	n/a
36	chr10:38109876-38109926	GM19239	blood:	n/a
37	chr10:38109876-38109926	MCF-7	breast:	n/a
38	chr10:38109876-38109926	T-47D	breast:	n/a
39	chr10:38109876-38109926	AoSMC	blood vessel:	n/a
40	chr10:38109879-38109929	AG09319	gingival:	n/a
41	chr10:38109879-38109929	HRE	kidney:	n/a
42	chr10:38109879-38109929	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:38109879-38109929	Caco-2	colon:	n/a
44	chr10:38109879-38109929	NH-A	brain:	n/a
45	chr10:38109876-38109926	ProgFib	skin:	n/a
46	chr10:38109876-38109926	HCT-116	colon:	n/a
47	chr10:38109879-38109929	HUVEC	blood vessel:	n/a
48	chr10:38109876-38109926	SKMC	muscle:	n/a
49	chr10:38109879-38109929	U87	brain:	n/a
50	chr10:38109879-38109929	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:38110004..38112160-chr10:38113639..38116563,2	K562	blood:
2	chr10:38105639..38107240-chr10:38135599..38138285,2	K562	blood:
3	chr10:38102329..38104964-chr10:38116969..38118969,2	MCF-7	breast:
4	chr10:38092650..38094653-chr10:38146551..38148241,3	MCF-7	breast:
5	chr10:38092192..38094710-chr10:38111605..38114587,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF25-2	chr10:38104305-38104466	NONHSAT012791
2	lnc-ZNF25-2	chr10:38105200-38105509	NONHSAT012791

No data

Variant related genes	Relation type
ENSG00000228828	TF binding region
ENSG00000228828	CpG island
ENSG00000198105	chromatin interactions
ENSG00000236514	chromatin interactions

Extended variants
information (count: 694 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11011374	chr10:38092862-38092863	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547888266	chr10:38092869-38092870	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568092365	chr10:38092945-38092946	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1208681	chr10:38092975-38092976	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs117679506	chr10:38092976-38092977	ZNF genes & repeats Enhancers Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116315638	chr10:38093023-38093024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377258118	chr10:38093029-38093030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs59261731	chr10:38093030-38093031	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199534326	chr10:38093031-38093032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200752485	chr10:38093032-38093033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201880698	chr10:38093033-38093034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs58677007	chr10:38093034-38093035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375918622	chr10:38093035-38093036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570635938	chr10:38093040-38093041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397946072	chr10:38093048-38093049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539665864	chr10:38093063-38093064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559057958	chr10:38093094-38093095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73236272	chr10:38093112-38093113	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565090528	chr10:38093127-38093128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34412241	chr10:38093198-38093199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150314783	chr10:38093305-38093306	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571721445	chr10:38093317-38093318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527561552	chr10:38093364-38093365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71491209	chr10:38093387-38093388	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567597827	chr10:38093443-38093444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373058204	chr10:38093455-38093456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12256181	chr10:38093456-38093457	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs55742761	chr10:38093544-38093545	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569366877	chr10:38093559-38093560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538348123	chr10:38093580-38093581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1208682	chr10:38093585-38093586	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs548916443	chr10:38093599-38093600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546004607	chr10:38093688-38093689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1208683	chr10:38093723-38093724	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs528168467	chr10:38093775-38093776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548302682	chr10:38093812-38093813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561510551	chr10:38093840-38093841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560275103	chr10:38093930-38093931	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530554742	chr10:38093934-38093935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs1208684	chr10:38093936-38093937	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs73236275	chr10:38093984-38093985	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533118796	chr10:38093989-38093990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577642629	chr10:38093997-38093998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs149020871	chr10:38094015-38094016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566719915	chr10:38094042-38094043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552598720	chr10:38094096-38094097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571096099	chr10:38094115-38094116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538064015	chr10:38094117-38094118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs74661738	chr10:38094186-38094187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1208685	chr10:38094190-38094191	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:40)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38081200-38097200	Weak transcription	Aorta	Aorta
2	chr10:38085400-38100800	Weak transcription	Left Ventricle	heart
3	chr10:38087400-38094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:38090000-38093200	Weak transcription	Brain Substantia Nigra	brain
5	chr10:38090400-38101000	Weak transcription	HepG2	liver
6	chr10:38090600-38093000	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:38090800-38102200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:38091200-38094000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:38091400-38094000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:38091800-38102400	Weak transcription	Brain Anterior Caudate	brain
11	chr10:38092000-38093000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:38092200-38093000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:38092200-38093000	Strong transcription	Adipose Nuclei	Adipose
14	chr10:38092200-38093000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:38092600-38093000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr10:38092600-38094200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:38092600-38105000	Weak transcription	Pancreas	Pancrea
18	chr10:38093000-38093200	Weak transcription	Ovary	ovary
19	chr10:38093000-38095200	Weak transcription	Adipose Nuclei	Adipose
20	chr10:38093000-38095400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:38093000-38098800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:38093000-38102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:38097200-38097600	ZNF genes & repeats	Aorta	Aorta
24	chr10:38098800-38100200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:38100800-38101000	ZNF genes & repeats	Left Ventricle	heart
26	chr10:38101000-38102000	Enhancers	HepG2	liver
27	chr10:38101200-38102200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr10:38101200-38103200	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr10:38101400-38102800	ZNF genes & repeats	Liver	Liver
30	chr10:38102000-38103600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:38102200-38102400	ZNF genes & repeats	Brain Angular Gyrus	brain
32	chr10:38102200-38102800	ZNF genes & repeats	Aorta	Aorta
33	chr10:38102200-38102800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
34	chr10:38102200-38103000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr10:38103000-38109200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:38103800-38118000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:38104400-38107400	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:38105000-38105600	ZNF genes & repeats	Pancreas	Pancrea
39	chr10:38105200-38105400	Enhancers	HSMMtube	muscle
40	chr10:38105600-38106200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr10:38105600-38106200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr10:38107200-38111200	ZNF genes & repeats	Liver	Liver
43	chr10:38108600-38109400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr10:38109200-38109600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr10:38109600-38116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:38109600-38116200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:38109800-38111200	Enhancers	HepG2	liver
48	chr10:38111000-38115800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:38111200-38117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:38111200-38118400	Weak transcription	HepG2	liver

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