Variant report

Variant	nsv894813
Chromosome Location	chr10:6071453-6076784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:6075911-6076305	K562	blood:	n/a	n/a
2	ATF1	chr10:6075942-6076269	K562	blood:	n/a	n/a
3	ATF3	chr10:6075958-6076247	K562	blood:	n/a	n/a
4	CBX3	chr10:6072176-6072494	K562	blood:	n/a	n/a
5	CBX3	chr10:6072111-6072550	K562	blood:	n/a	n/a
6	CCNT2	chr10:6076005-6076271	K562	blood:	n/a	n/a
7	CUX1	chr10:6075553-6076164	K562	blood:	n/a	n/a
8	EP300	chr10:6075821-6076398	K562	blood:	n/a	n/a
9	EP300	chr10:6075853-6076384	K562	blood:	n/a	n/a
10	GATA3	chr10:6075797-6075977	SH-SY5Y	brain:	n/a	n/a
11	HMGN3	chr10:6076014-6076231	K562	blood:	n/a	n/a
12	IRF1	chr10:6073018-6073082	K562	blood:	n/a	n/a
13	JUN	chr10:6075919-6076325	K562	blood:	n/a	n/a
14	JUN	chr10:6075517-6077077	K562	blood:	n/a	n/a
15	JUN	chr10:6075912-6076288	K562	blood:	n/a	n/a
16	JUN	chr10:6075943-6076283	K562	blood:	n/a	n/a
17	JUND	chr10:6075859-6076366	K562	blood:	n/a	n/a
18	KAP1	chr10:6071989-6073345	K562	blood:	n/a	n/a
19	MAFF	chr10:6075902-6076291	K562	blood:	n/a	n/a
20	MAFK	chr10:6075553-6076312	K562	blood:	n/a	n/a
21	MAFK	chr10:6075967-6076204	HepG2	liver:	n/a	n/a
22	MAX	chr10:6076046-6076248	K562	blood:	n/a	n/a
23	PBX3	chr10:6075889-6076374	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr10:6075870-6076230	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr10:6075136-6075161	HUVEC	blood vessel:	n/a	n/a
26	RCOR1	chr10:6075798-6076327	K562	blood:	n/a	n/a
27	SETDB1	chr10:6072063-6072541	U2OS	brain:	n/a	n/a
28	SPI1	chr10:6076609-6076745	K562	blood:	n/a	chr10:6076708-6076721
29	SPI1	chr10:6075658-6075867	GM12891	blood:	n/a	n/a
30	SPI1	chr10:6075692-6075854	GM12891	blood:	n/a	n/a
31	SPI1	chr10:6076587-6076840	HL-60	blood:	n/a	chr10:6076708-6076721
32	TAL1	chr10:6076010-6076013	K562	blood:	n/a	n/a
33	TBL1XR1	chr10:6075948-6076643	K562	blood:	n/a	n/a
34	TEAD4	chr10:6075809-6076402	K562	blood:	n/a	n/a
35	TRIM28	chr10:6072188-6072464	K562	blood:	n/a	n/a
36	TRIM28	chr10:6072154-6072502	K562	blood:	n/a	n/a
37	UBTF	chr10:6075962-6076162	K562	blood:	n/a	n/a
38	USF1	chr10:6072232-6072551	K562	blood:	n/a	n/a
39	ZNF143	chr10:6072220-6072531	K562	blood:	n/a	n/a
40	ZNF143	chr10:6072201-6072560	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF384	chr10:6072361-6072452	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6068815..6071156-chr10:6071379..6075335,3	K562	blood:
2	chr10:6074070..6077031-chr10:6131328..6132999,2	K562	blood:
3	chr10:6070515..6072335-chr10:6076874..6078701,2	K562	blood:
4	chr10:6076656..6079069-chr10:6086121..6089076,2	MCF-7	breast:
5	chr10:6059382..6061395-chr10:6068804..6071571,2	MCF-7	breast:
6	chr10:6076770..6078831-chr10:6080611..6082982,2	MCF-7	breast:
7	chr10:5962148..5964571-chr10:6074505..6076333,2	K562	blood:

No data

Variant related genes	Relation type
IL2RA	TF binding region
ENSG00000134452	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4749920	chr10:6071453-6071454	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573872541	chr10:6071468-6071469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559924641	chr10:6071476-6071477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544359938	chr10:6071496-6071497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12257077	chr10:6071545-6071546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77894868	chr10:6071563-6071564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545171427	chr10:6071568-6071569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4749921	chr10:6071654-6071655	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186474503	chr10:6071730-6071731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548725973	chr10:6071758-6071759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567916114	chr10:6071775-6071776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12722549	chr10:6071808-6071809	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191274456	chr10:6071887-6071888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183761207	chr10:6071914-6071915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144309505	chr10:6071958-6071959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190567576	chr10:6072030-6072031	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12722548	chr10:6072046-6072047	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12722547	chr10:6072093-6072094	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564774559	chr10:6072151-6072152	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554679791	chr10:6072166-6072167	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573862683	chr10:6072213-6072214	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs537777493	chr10:6072235-6072236	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs556319267	chr10:6072236-6072237	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577953029	chr10:6072255-6072256	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376388674	chr10:6072261-6072262	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs141168733	chr10:6072262-6072263	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371874453	chr10:6072279-6072280	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs10905641	chr10:6072293-6072294	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12722677	chr10:6072307-6072308	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs10795752	chr10:6072354-6072355	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550251258	chr10:6072426-6072427	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs1323657	chr10:6072427-6072428	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576164778	chr10:6072470-6072471	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs41294703	chr10:6072480-6072481	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4625363	chr10:6072504-6072505	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565800911	chr10:6072505-6072506	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536379893	chr10:6072639-6072640	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548540917	chr10:6072648-6072649	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530451759	chr10:6072665-6072666	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12722676	chr10:6072668-6072669	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538134377	chr10:6072690-6072691	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs185167704	chr10:6072752-6072753	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12722543	chr10:6072760-6072761	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528764016	chr10:6072761-6072762	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542235796	chr10:6072848-6072849	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538803559	chr10:6072849-6072850	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554044656	chr10:6072851-6072852	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572151370	chr10:6072866-6072867	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542407080	chr10:6073002-6073003	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560932800	chr10:6073116-6073117	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6060800-6075800	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:6066600-6079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:6066800-6078000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:6070200-6077800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:6070400-6077000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:6070400-6077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:6070800-6072600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:6070800-6072800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:6071000-6075800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:6071000-6076600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:6071800-6072200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:6072600-6072800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:6072600-6073200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr10:6072800-6073000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:6072800-6074000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:6073000-6077800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:6073200-6073600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:6073600-6074000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr10:6074000-6074800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:6074000-6075800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:6074800-6075200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr10:6075000-6078600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:6075200-6076000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:6075400-6075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:6075400-6079200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:6075600-6075800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:6075600-6075800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:6075600-6076000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:6075600-6076400	Enhancers	NHDF-Ad	bronchial
30	chr10:6075600-6076800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:6075600-6076800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr10:6075600-6076800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:6075600-6076800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:6075600-6077200	Enhancers	Adipose Nuclei	Adipose
35	chr10:6075800-6076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:6075800-6076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:6075800-6076000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:6075800-6076800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:6075800-6076800	Enhancers	K562	blood
40	chr10:6075800-6076800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:6075800-6077200	Enhancers	Colon Smooth Muscle	Colon
42	chr10:6075800-6078800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr10:6075800-6079000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:6076000-6076200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:6076000-6076400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:6076000-6076400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:6076000-6079000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr10:6076000-6079600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:6076200-6076400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:6076200-6076800	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links