Variant report

Variant	rs73285360
Chromosome Location	chr10:45957784-45957785
allele	A/T
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	POLR2A	chr10:45955028-45957870	K562	blood:	n/a	n/a
2	RELA	chr10:45955560-45958082	GM10847	blood:	n/a	n/a
3	POLR2A	chr10:45955547-45958138	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:45955406-45958194	GM12892	blood:	n/a	n/a
5	TBL1XR1	chr10:45957389-45958181	GM12878	blood:	n/a	n/a
6	ZNF384	chr10:45957328-45958240	GM12878	blood:	n/a	n/a
7	EP300	chr10:45957623-45958110	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:45957160-45958027	GM12892	blood:	n/a	n/a
9	MEF2A	chr10:45957672-45958262	GM12878	blood:	n/a	chr10:45958001-45958022 chr10:45958002-45958018 chr10:45958004-45958015 chr10:45958003-45958018 chr10:45958006-45958015 chr10:45958021-45958029
10	NFIC	chr10:45957671-45958195	GM12878	blood:	n/a	n/a
11	MEF2C	chr10:45957699-45958168	GM12878	blood:	n/a	chr10:45958001-45958022 chr10:45958002-45958018 chr10:45958004-45958015 chr10:45958003-45958018 chr10:45958006-45958015 chr10:45958021-45958029
12	SPI1	chr10:45957766-45958322	GM12878	blood:	n/a	n/a
13	CUX1	chr10:45957738-45958041	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:45955366-45958859	GM12891	blood:	n/a	n/a
15	SP1	chr10:45957726-45958166	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:45955609-45958107	GM19099	blood:	n/a	n/a
17	POLR2A	chr10:45955701-45958114	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:45955424-45958114	GM12892	blood:	n/a	n/a
19	BCLAF1	chr10:45957345-45958146	GM12878	blood:	n/a	n/a
20	IKZF1	chr10:45957623-45958113	GM12878	blood:	n/a	n/a
21	WRNIP1	chr10:45957780-45957948	GM12878	blood:	n/a	n/a
22	NFIC	chr10:45957314-45958251	GM12878	blood:	n/a	n/a
23	STAT5A	chr10:45957302-45958102	GM12878	blood:	n/a	n/a
24	RCOR1	chr10:45957472-45958113	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:45955646-45958096	GM18951	blood:	n/a	n/a
26	SP1	chr10:45957631-45958142	GM12878	blood:	n/a	n/a
27	MAZ	chr10:45957732-45958101	GM12878	blood:	n/a	n/a
28	FOXM1	chr10:45957434-45958245	GM12878	blood:	n/a	n/a
29	POU2F2	chr10:45957780-45958055	GM12878	blood:	n/a	chr10:45957987-45958005
30	POLR2A	chr10:45955725-45958105	GM12892	blood:	n/a	n/a
31	POLR2A	chr10:45955463-45958109	GM12878	blood:	n/a	n/a
32	ELK1	chr10:45957775-45957952	GM12878	blood:	n/a	n/a
33	MTA3	chr10:45955535-45958177	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:45955742-45958060	GM18526	blood:	n/a	n/a
35	POU2F2	chr10:45957734-45958163	GM12878	blood:	n/a	chr10:45957987-45958005
36	CHD2	chr10:45957537-45958089	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:45955573-45958099	GM18505	blood:	n/a	n/a
38	POLR2A	chr10:45955388-45958100	GM12878	blood:	n/a	n/a
39	ATF2	chr10:45957599-45958154	GM12878	blood:	n/a	n/a
40	MEF2A	chr10:45957758-45958143	GM12878	blood:	n/a	chr10:45958001-45958022 chr10:45958002-45958018 chr10:45958004-45958015 chr10:45958003-45958018 chr10:45958006-45958015 chr10:45958021-45958029
41	POLR2A	chr10:45957656-45958049	GM12891	blood:	n/a	n/a
42	SMC3	chr10:45957766-45958094	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MARCH8	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12253903	1.00[AMR][1000 genomes]
rs12776336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56749023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57973254	0.90[AFR][1000 genomes]
rs58393353	0.83[AMR][1000 genomes]
rs58421161	0.83[AMR][1000 genomes]
rs58437785	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58967087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60040820	0.90[AFR][1000 genomes]
rs60481109	1.00[AMR][1000 genomes]
rs60710398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285378	1.00[AMR][1000 genomes]
rs73285382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287377	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287382	0.83[AMR][1000 genomes]
rs73287385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287396	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73289212	0.85[AMR][1000 genomes]
rs73289214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289290	0.90[AFR][1000 genomes]
rs73289300	0.83[AMR][1000 genomes]
rs73291106	0.83[AMR][1000 genomes]
rs73292804	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:45948000-45963600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:45948600-45959800	Strong transcription	Fetal Intestine Small	intestine
6	chr10:45948600-45959800	Strong transcription	Fetal Stomach	stomach
7	chr10:45949200-45965600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:45949400-45959800	Strong transcription	Primary T cells from cord blood	blood
9	chr10:45949800-45958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:45950000-45967200	Weak transcription	Psoas Muscle	Psoas
11	chr10:45950200-45959400	Strong transcription	Fetal Intestine Large	intestine
12	chr10:45950200-45960600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:45950400-45959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:45950400-45959600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:45950400-45966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:45950600-45958600	Weak transcription	Right Atrium	heart
17	chr10:45950800-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:45951000-45958400	Weak transcription	Fetal Heart	heart
19	chr10:45951000-45958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:45951000-45960600	Weak transcription	Fetal Brain Male	brain
21	chr10:45951000-45965600	Weak transcription	Brain Germinal Matrix	brain
22	chr10:45951200-45958600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:45951200-45959000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr10:45951200-45959400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr10:45951200-45959600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr10:45951200-45959600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:45951200-45960600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:45951400-45962200	Weak transcription	HMEC	breast
29	chr10:45951600-45959400	Strong transcription	Ovary	ovary
30	chr10:45951600-45959800	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr10:45951600-45965600	Weak transcription	Small Intestine	intestine
32	chr10:45952000-45959400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:45953000-45959000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr10:45953000-45965600	Weak transcription	Colon Smooth Muscle	Colon
35	chr10:45953600-45969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:45954400-45957800	Strong transcription	Lung	lung
37	chr10:45954600-45959200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:45954600-45965600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:45954800-45958000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:45954800-45960200	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:45955000-45957800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr10:45955000-45958000	Flanking Active TSS	GM12878-XiMat	blood
43	chr10:45955000-45958600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:45955000-45965600	Weak transcription	NHLF	lung
45	chr10:45955200-45958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:45955200-45960200	Weak transcription	Gastric	stomach
47	chr10:45955400-45957800	Genic enhancers	Adipose Nuclei	Adipose
48	chr10:45955600-45957800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:45955600-45959000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:45955600-45960600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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