Variant report

Variant	rs1263344
Chromosome Location	chr4:2924410-2924411
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	YY1	chr4:2924319-2924939	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU2F2	chr4:2924367-2924839	GM12878	blood:	n/a	n/a
3	POU2F2	chr4:2924403-2924685	GM12878	blood:	n/a	n/a
4	SP1	chr4:2924409-2924737	H1-hESC	embryonic stem cell:	n/a	chr4:2924554-2924565 chr4:2924565-2924576
5	TEAD4	chr4:2924362-2925067	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr4:2924410-2924745	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXA2	chr4:2924369-2924942	A549	lung:	n/a	n/a
8	TEAD4	chr4:2924408-2925062	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ADD1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1012365	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263338	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263339	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1263340	0.81[ASN][1000 genomes]
rs1263341	0.82[ASN][1000 genomes]
rs1263342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263343	0.85[ASN][1000 genomes]
rs1263345	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263347	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263349	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12642795	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419045	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16843452	0.83[ASN][1000 genomes]
rs16843523	0.87[ASN][1000 genomes]
rs2051560	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071695	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2097081	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2185885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237004	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239728	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282772	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282773	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282774	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285084	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301374	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2798287	0.81[ASN][1000 genomes]
rs2857866	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3796469	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4690000	0.85[ASN][1000 genomes]
rs4690001	0.84[ASN][1000 genomes]
rs4690065	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4963	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73082333	0.86[ASN][1000 genomes]
rs73189458	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs762847	0.80[ASN][1000 genomes]
rs7654786	0.80[ASN][1000 genomes]
rs7664801	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak 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	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
2	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
3	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
6	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
7	chr4:2912600-2934800	Weak transcription	A549	lung
8	chr4:2913000-2935000	Weak transcription	K562	blood
9	chr4:2914000-2925800	Weak transcription	NHDF-Ad	bronchial
10	chr4:2914200-2925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:2915600-2924800	Weak transcription	Brain Substantia Nigra	brain
12	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
13	chr4:2916400-2929800	Weak transcription	Fetal Heart	heart
14	chr4:2916800-2924800	Weak transcription	Pancreas	Pancrea
15	chr4:2917000-2932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:2917200-2924800	Weak transcription	HepG2	liver
17	chr4:2917400-2925000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:2917400-2925000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:2917600-2925200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:2917800-2924600	Weak transcription	NHEK	skin
21	chr4:2917800-2924800	Weak transcription	Colonic Mucosa	Colon
22	chr4:2917800-2924800	Weak transcription	HMEC	breast
23	chr4:2917800-2925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:2917800-2925000	Weak transcription	Gastric	stomach
25	chr4:2917800-2925000	Weak transcription	Dnd41	blood
26	chr4:2917800-2925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:2917800-2925400	Weak transcription	NHLF	lung
28	chr4:2917800-2926000	Weak transcription	Aorta	Aorta
29	chr4:2918000-2925200	Weak transcription	HSMMtube	muscle
30	chr4:2918400-2925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:2918600-2924600	Weak transcription	Left Ventricle	heart
32	chr4:2918800-2924600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:2918800-2924800	Weak transcription	Brain Angular Gyrus	brain
34	chr4:2918800-2924800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:2918800-2925000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:2918800-2927800	Weak transcription	Fetal Brain Male	brain
37	chr4:2919000-2925000	Weak transcription	Right Ventricle	heart
38	chr4:2919200-2924800	Weak transcription	Liver	Liver
39	chr4:2919200-2924800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:2919200-2925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:2919200-2925000	Weak transcription	Fetal Kidney	kidney
42	chr4:2919200-2925000	Weak transcription	Placenta	Placenta
43	chr4:2919200-2925000	Weak transcription	Osteobl	bone
44	chr4:2919400-2924800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:2922200-2925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:2923400-2924600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:2923400-2925200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:2923400-2925400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:2923400-2925600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr4:2923400-2925600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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