Variant report

Variant	rs73853483
Chromosome Location	chr3:81792946-81792947
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	BCL3	chr3:81792192-81793340	A549	lung:	n/a	chr3:81792698-81792707
2	FOS	chr3:81791877-81793096	MCF10A-Er-Src	breast:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792308 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
3	GABPA	chr3:81792458-81793067	A549	lung:	n/a	n/a
4	MAFK	chr3:81791850-81792964	K562	blood:	n/a	chr3:81792300-81792309
5	CEBPB	chr3:81792188-81793284	A549	lung:	n/a	n/a
6	JUN	chr3:81791732-81794075	K562	blood:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81793639-81793648 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
7	SP1	chr3:81792025-81793288	A549	lung:	n/a	n/a
8	RCOR1	chr3:81791675-81794122	IMR90	lung:	n/a	n/a
9	TRIM28	chr3:81792427-81792962	K562	blood:	n/a	chr3:81792697-81792706
10	TAL1	chr3:81792449-81793030	K562	blood:	n/a	chr3:81792743-81792754
11	TCF12	chr3:81792467-81793192	A549	lung:	n/a	n/a
12	MAFK	chr3:81792236-81792966	Hela-S3	cervix:	n/a	chr3:81792300-81792309
13	JUND	chr3:81792218-81792981	HCT-116	colon:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
14	RXRA	chr3:81792197-81792993	SK-N-SH	brain:	n/a	chr3:81792972-81792991 chr3:81792698-81792707
15	EP300	chr3:81792207-81792954	Hela-S3	cervix:	n/a	chr3:81792520-81792534 chr3:81792698-81792707
16	CHD1	chr3:81791710-81794472	IMR90	lung:	n/a	n/a
17	JUND	chr3:81792300-81793038	K562	blood:	n/a	chr3:81792534-81792546 chr3:81792427-81792439 chr3:81792697-81792708
18	JUN	chr3:81792536-81792996	K562	blood:	n/a	n/a
19	NFATC1	chr3:81792576-81793208	GM12878	blood:	n/a	n/a
20	GATA3	chr3:81791963-81794163	A549	lung:	n/a	chr3:81793773-81793782 chr3:81793663-81793672 chr3:81793769-81793785 chr3:81793770-81793780 chr3:81793773-81793782 chr3:81793772-81793782 chr3:81793687-81793696 chr3:81793134-81793142
21	MAX	chr3:81792141-81793230	A549	lung:	n/a	chr3:81792698-81792707
22	NR3C1	chr3:81792603-81792961	A549	lung:	n/a	n/a
23	POLR2A	chr3:81792001-81793076	HUVEC	blood vessel:	n/a	n/a
24	CCNT2	chr3:81792525-81792998	K562	blood:	n/a	n/a
25	USF1	chr3:81792454-81793202	A549	lung:	n/a	n/a
26	JUND	chr3:81791680-81793344	SK-N-SH	brain:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
27	PBX3	chr3:81792064-81793027	SK-N-SH	brain:	n/a	n/a
28	JUND	chr3:81792077-81793010	HCT-116	colon:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
29	FOS	chr3:81791952-81793089	HUVEC	blood vessel:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792308 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
30	RCOR1	chr3:81792235-81793108	K562	blood:	n/a	n/a
31	POLR2A	chr3:81791713-81793291	U87	brain:	n/a	n/a
32	BCL3	chr3:81792138-81793126	A549	lung:	n/a	chr3:81792698-81792707
33	JUN	chr3:81792117-81793110	HUVEC	blood vessel:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792298-81792308
34	FOSL1	chr3:81792100-81792978	HCT-116	colon:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
35	MEF2A	chr3:81792057-81793072	SK-N-SH	brain:	n/a	chr3:81792411-81792422 chr3:81792699-81792707 chr3:81792409-81792423
36	SRF	chr3:81792139-81793052	HCT-116	colon:	n/a	chr3:81792407-81792425
37	JUND	chr3:81792198-81792979	Hela-S3	cervix:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
38	GATA2	chr3:81792232-81793140	HUVEC	blood vessel:	n/a	n/a
39	EP300	chr3:81792256-81793294	K562	blood:	n/a	chr3:81792520-81792534 chr3:81792698-81792707
40	JUND	chr3:81791991-81793138	SK-N-SH	brain:	n/a	chr3:81792298-81792308 chr3:81792534-81792546 chr3:81792297-81792309 chr3:81792299-81792307 chr3:81792427-81792439 chr3:81792697-81792708 chr3:81792298-81792308
41	TBL1XR1	chr3:81792449-81793057	K562	blood:	n/a	n/a
42	MAZ	chr3:81792489-81792961	K562	blood:	n/a	chr3:81792698-81792707
43	POLR2A	chr3:81791798-81793092	U87	brain:	n/a	n/a
44	JUN	chr3:81792497-81793068	K562	blood:	n/a	chr3:81792534-81792546
45	MEF2A	chr3:81792046-81793018	SK-N-SH	brain:	n/a	chr3:81792411-81792422 chr3:81792699-81792707 chr3:81792409-81792423
46	JUND	chr3:81792498-81793279	A549	lung:	n/a	chr3:81792534-81792546 chr3:81792697-81792708
47	GATA3	chr3:81792490-81793343	A549	lung:	n/a	chr3:81793134-81793142
48	FOXA2	chr3:81792803-81793220	A549	lung:	n/a	n/a
49	ZMIZ1	chr3:81792553-81793068	K562	blood:	n/a	n/a
50	GATA3	chr3:81792115-81793105	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:81792798..81795144-chr3:81808070..81811820,3	MCF-7	breast:
2	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
3	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55850416	1.00[AFR][1000 genomes]
rs55903411	1.00[AFR][1000 genomes]
rs55980200	1.00[AFR][1000 genomes]
rs56234525	0.82[AFR][1000 genomes]
rs59795628	1.00[AFR][1000 genomes]
rs60401337	1.00[AFR][1000 genomes]
rs73853448	1.00[AFR][1000 genomes]
rs73853451	1.00[AFR][1000 genomes]
rs73853452	1.00[AFR][1000 genomes]
rs73853455	1.00[AFR][1000 genomes]
rs73853456	1.00[AFR][1000 genomes]
rs73853459	1.00[AFR][1000 genomes]
rs73853460	1.00[AFR][1000 genomes]
rs73853461	1.00[AFR][1000 genomes]
rs73853462	1.00[AFR][1000 genomes]
rs73853464	1.00[AFR][1000 genomes]
rs73853472	0.84[AFR][1000 genomes]
rs73853473	1.00[AFR][1000 genomes]
rs73853474	1.00[AFR][1000 genomes]
rs73853475	1.00[AFR][1000 genomes]
rs73853476	1.00[AFR][1000 genomes]
rs73853477	1.00[AFR][1000 genomes]
rs73853478	1.00[AFR][1000 genomes]
rs73853479	1.00[AFR][1000 genomes]
rs73853480	1.00[AFR][1000 genomes]
rs73853482	1.00[AFR][1000 genomes]
rs73853484	1.00[AFR][1000 genomes]
rs73853485	0.82[AFR][1000 genomes]
rs73853486	0.82[AFR][1000 genomes]
rs73853489	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
5	chr3:81782800-81796600	Weak transcription	Right Atrium	heart
6	chr3:81785200-81793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:81785600-81793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:81789200-81794400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:81789600-81793600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:81789600-81794400	Enhancers	Fetal Heart	heart
11	chr3:81789600-81794600	Enhancers	Hela-S3	cervix
12	chr3:81789600-81794800	Enhancers	Adipose Nuclei	Adipose
13	chr3:81790000-81793400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:81790600-81793200	Enhancers	Colon Smooth Muscle	Colon
15	chr3:81791000-81793400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:81791200-81793800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:81791200-81794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:81791200-81794800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:81791200-81794800	Enhancers	Liver	Liver
20	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
21	chr3:81791400-81795400	Weak transcription	Right Ventricle	heart
22	chr3:81791400-81796400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:81791600-81793200	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:81791600-81793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:81791600-81794400	Enhancers	K562	blood
26	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:81791800-81793000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:81791800-81793400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:81791800-81794000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:81791800-81794000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:81791800-81794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:81792000-81793000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:81792000-81794000	Enhancers	Stomach Mucosa	stomach
34	chr3:81792000-81795000	Enhancers	HSMM	muscle
35	chr3:81792000-81795400	Weak transcription	Psoas Muscle	Psoas
36	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
37	chr3:81792200-81793000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:81792200-81793000	Enhancers	Brain Substantia Nigra	brain
39	chr3:81792200-81793800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:81792200-81793800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:81792200-81794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:81792200-81794200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr3:81792200-81794400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:81792200-81794800	Enhancers	HMEC	breast
45	chr3:81792200-81795200	Enhancers	Osteobl	bone
46	chr3:81792200-81795600	Enhancers	NHLF	lung
47	chr3:81792400-81793000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:81792400-81793000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:81792400-81793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:81792400-81793800	Enhancers	Stomach Smooth Muscle	stomach

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