Variant report

Variant	rs73226399
Chromosome Location	chr3:111575331-111575332
allele	C/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	MYC	chr3:111575308-111575698	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr3:111574593-111575368	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr3:111574698-111575358	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
PHLDB2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17424938	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17425250	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17490701	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17491175	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55921603	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55954252	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56092121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56105878	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56343172	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67396907	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6809779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73226349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73226359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73226368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73228506	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73228508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228514	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228515	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228518	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228521	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228530	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228535	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228543	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73228545	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73228547	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73228550	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73228569	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7340610	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs937557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111563000-111577400	Weak transcription	HepG2	liver
3	chr3:111566200-111577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:111567800-111577400	Weak transcription	Liver	Liver
5	chr3:111567800-111577400	Weak transcription	NHDF-Ad	bronchial
6	chr3:111570400-111577600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:111570600-111575400	Weak transcription	Small Intestine	intestine
8	chr3:111570800-111575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:111570800-111577400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:111571000-111577400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:111571200-111577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:111571200-111577400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:111571600-111575400	Weak transcription	Right Ventricle	heart
14	chr3:111571600-111577400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:111571600-111577400	Weak transcription	HMEC	breast
16	chr3:111571600-111577400	Weak transcription	HSMM	muscle
17	chr3:111571600-111577400	Weak transcription	NHLF	lung
18	chr3:111571800-111575400	Weak transcription	Adipose Nuclei	Adipose
19	chr3:111571800-111576400	Weak transcription	NH-A	brain
20	chr3:111571800-111577200	Weak transcription	Hela-S3	cervix
21	chr3:111571800-111577400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:111571800-111577400	Weak transcription	A549	lung
23	chr3:111572200-111577400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:111572200-111577400	Weak transcription	Osteobl	bone
25	chr3:111572400-111575400	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:111572400-111575800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:111572400-111577400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:111572400-111577400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:111572400-111577400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:111572400-111577600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:111572400-111577600	Weak transcription	Fetal Kidney	kidney
32	chr3:111572600-111577400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:111572600-111577400	Weak transcription	HUVEC	blood vessel
34	chr3:111572800-111577400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:111573800-111575600	Weak transcription	Placenta	Placenta
36	chr3:111574000-111577400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:111574200-111577400	Weak transcription	Spleen	Spleen
38	chr3:111574400-111577400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:111574400-111577400	Weak transcription	Fetal Heart	heart
40	chr3:111574400-111577400	Weak transcription	Fetal Intestine Small	intestine
41	chr3:111574600-111575800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr3:111574800-111576000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:111575000-111575600	Enhancers	NHEK	skin
44	chr3:111575000-111575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:111575000-111576000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:111575000-111576200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:111575000-111577600	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links