Variant report

Variant	rs73042283
Chromosome Location	chr7:5216883-5216884
allele	A/G
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	JUND	chr7:5216706-5217028	K562	blood:	n/a	chr7:5216863-5216872
2	MYC	chr7:5216703-5216918	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr7:5216748-5217015	HepG2	liver:	n/a	chr7:5216859-5216872 chr7:5216863-5216872
4	POLR2A	chr7:5216854-5216884	Hela-S3	cervix:	n/a	n/a
5	MYC	chr7:5216811-5216978	MCF10A-Er-Src	breast:	n/a	n/a
6	JUN	chr7:5216492-5217172	K562	blood:	n/a	chr7:5216859-5216872 chr7:5216863-5216872
7	TCF7L2	chr7:5216611-5217008	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr7:5216803-5217026	IMR90	lung:	n/a	n/a
9	BRCA1	chr7:5216725-5217003	Hela-S3	cervix:	n/a	n/a
10	JUND	chr7:5216465-5217730	SK-N-SH	brain:	n/a	chr7:5216863-5216872
11	POLR2A	chr7:5216699-5217079	SK-N-SH	brain:	n/a	n/a
12	SMC3	chr7:5216874-5216967	Hela-S3	cervix:	n/a	n/a
13	JUND	chr7:5216687-5217029	Hela-S3	cervix:	n/a	chr7:5216863-5216872
14	FOS	chr7:5216747-5216989	MCF10A-Er-Src	breast:	n/a	chr7:5216863-5216872
15	MAX	chr7:5216618-5217132	SK-N-SH	brain:	n/a	n/a
16	ATF1	chr7:5216726-5217005	K562	blood:	n/a	n/a
17	GATA3	chr7:5216517-5216905	T-47D	breast:	n/a	chr7:5216811-5216820
18	TCF12	chr7:5216495-5217289	SK-N-SH	brain:	n/a	chr7:5216716-5216723
19	FOS	chr7:5216783-5217017	MCF10A-Er-Src	breast:	n/a	chr7:5216863-5216872
20	FOS	chr7:5216814-5216988	MCF10A-Er-Src	breast:	n/a	chr7:5216863-5216872
21	NFIC	chr7:5216624-5217126	ECC-1	luminal epithelium:	n/a	n/a
22	JUND	chr7:5216678-5217044	HepG2	liver:	n/a	chr7:5216863-5216872
23	CEBPB	chr7:5216735-5216980	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr7:5216736-5217050	Hela-S3	cervix:	n/a	n/a
25	FOS	chr7:5216789-5216991	MCF10A-Er-Src	breast:	n/a	chr7:5216863-5216872
26	STAT3	chr7:5216816-5216906	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-215P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55854009	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55863534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60587455	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6956158	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975151	0.93[EUR][1000 genomes]
rs73042273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046113	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7778786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv605982	chr7:5133219-5222956	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
11	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5214200-5222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5216400-5217400	Enhancers	Colonic Mucosa	Colon
3	chr7:5216400-5218600	Enhancers	Liver	Liver
4	chr7:5216600-5217000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:5216600-5217000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:5216600-5217000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:5216600-5217000	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr7:5216600-5217000	Enhancers	Brain Germinal Matrix	brain
9	chr7:5216600-5217000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:5216600-5217000	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr7:5216600-5217000	Enhancers	Fetal Brain Male	brain
12	chr7:5216600-5217000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr7:5216600-5217000	Enhancers	Gastric	stomach
14	chr7:5216600-5217000	Enhancers	Stomach Mucosa	stomach
15	chr7:5216600-5217000	Flanking Active TSS	Hela-S3	cervix
16	chr7:5216600-5217000	Enhancers	HMEC	breast
17	chr7:5216600-5217200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:5216600-5217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:5216600-5217200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:5216600-5217200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:5216600-5217200	Enhancers	Aorta	Aorta
22	chr7:5216600-5217200	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr7:5216600-5217200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr7:5216600-5217200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:5216600-5217200	Enhancers	Ovary	ovary
26	chr7:5216600-5217200	Enhancers	Right Atrium	heart
27	chr7:5216600-5217200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr7:5216600-5217200	Enhancers	A549	lung
29	chr7:5216600-5217200	Enhancers	HSMM	muscle
30	chr7:5216600-5217200	Flanking Active TSS	Osteobl	bone
31	chr7:5216600-5217400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:5216600-5217400	Enhancers	Pancreas	Pancrea
33	chr7:5216600-5217600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:5216600-5217600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:5216600-5217600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:5216600-5217600	Enhancers	Placenta	Placenta
37	chr7:5216600-5217600	Enhancers	NH-A	brain
38	chr7:5216600-5217600	Enhancers	NHLF	lung
39	chr7:5216800-5217000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:5216800-5217000	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr7:5216800-5217000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr7:5216800-5217000	Flanking Active TSS	HSMMtube	muscle

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