Variant report

Variant	rs73363685
Chromosome Location	chr12:76103361-76103362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76101462..76103628-chr12:76173013..76174692,2	MCF-7	breast:
2	chr12:76102037..76104133-chr12:76105458..76107815,2	K562	blood:
3	chr12:76101934..76108267-chr12:76336185..76339499,5	MCF-7	breast:
4	chr12:76101957..76104575-chr12:76208488..76210993,2	MCF-7	breast:
5	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
6	chr12:76098446..76100870-chr12:76101330..76106018,5	K562	blood:
7	chr12:76102346..76108137-chr12:76108362..76111472,5	MCF-7	breast:
8	chr12:76102097..76104624-chr12:76369876..76371857,2	MCF-7	breast:
9	chr12:76098446..76100265-chr12:76101330..76104359,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17115491	0.97[AFR][1000 genomes]
rs58434374	1.00[AMR][1000 genomes]
rs59665018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61279777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363659	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363680	0.87[AFR][1000 genomes]
rs73363684	1.00[AMR][1000 genomes]
rs73363692	1.00[AMR][1000 genomes]
rs73363694	1.00[AMR][1000 genomes]
rs73363698	1.00[AMR][1000 genomes]
rs73363701	1.00[AMR][1000 genomes]
rs73365803	1.00[AMR][1000 genomes]
rs74109621	1.00[AMR][1000 genomes]
rs74109628	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76098200-76104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:76098400-76104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:76098400-76105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:76098800-76104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:76098800-76105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:76099600-76110800	Enhancers	HepG2	liver
9	chr12:76099800-76103600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:76100000-76106800	Weak transcription	Right Ventricle	heart
11	chr12:76100000-76115200	Weak transcription	Pancreas	Pancrea
12	chr12:76100200-76104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:76100400-76104600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:76100400-76104600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:76100400-76105400	Weak transcription	Psoas Muscle	Psoas
16	chr12:76100400-76106800	Weak transcription	Right Atrium	heart
17	chr12:76100400-76108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:76100600-76105400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:76100800-76103400	Weak transcription	Aorta	Aorta
20	chr12:76100800-76104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:76100800-76104600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:76100800-76104800	Enhancers	HUVEC	blood vessel
23	chr12:76100800-76105000	Enhancers	NHDF-Ad	bronchial
24	chr12:76100800-76107000	Weak transcription	Small Intestine	intestine
25	chr12:76101000-76103400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:76101000-76103400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:76101000-76103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:76101000-76103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:76101000-76104200	Weak transcription	HMEC	breast
30	chr12:76101000-76104600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:76101000-76104800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:76101000-76105200	Weak transcription	Stomach Mucosa	stomach
33	chr12:76101000-76106000	Weak transcription	Dnd41	blood
34	chr12:76101000-76106000	Weak transcription	NH-A	brain
35	chr12:76101000-76113600	Weak transcription	Fetal Stomach	stomach
36	chr12:76101400-76103400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:76101400-76103600	Weak transcription	NHEK	skin
38	chr12:76101400-76114200	Weak transcription	Left Ventricle	heart
39	chr12:76101400-76114800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:76101600-76103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:76101600-76104600	Weak transcription	Hela-S3	cervix
42	chr12:76101600-76105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:76101800-76103400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:76101800-76106000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:76101800-76114200	Weak transcription	NHLF	lung
46	chr12:76102200-76103400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:76102200-76106000	Weak transcription	Osteobl	bone
48	chr12:76102600-76103800	Enhancers	Fetal Heart	heart
49	chr12:76102600-76103800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:76102600-76104800	Enhancers	Fetal Lung	lung

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