Variant report

Variant	rs1263342
Chromosome Location	chr4:2922629-2922630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1012365	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263338	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263339	0.96[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]
rs1263343	0.85[ASN][1000 genomes]
rs1263344	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263345	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263347	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263349	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12642795	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419045	0.91[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	0.82[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	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237004	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239728	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282772	0.82[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	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285084	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301374	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2798287	0.81[ASN][1000 genomes]
rs2857866	0.85[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	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4963	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964	0.93[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	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
4	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:2909400-2923400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
8	chr4:2911200-2924000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
10	chr4:2912600-2934800	Weak transcription	A549	lung
11	chr4:2913000-2923800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:2913000-2935000	Weak transcription	K562	blood
13	chr4:2913800-2924000	Weak transcription	Stomach Mucosa	stomach
14	chr4:2914000-2925800	Weak transcription	NHDF-Ad	bronchial
15	chr4:2914200-2925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:2915600-2923400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:2915600-2924800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
19	chr4:2916400-2923400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:2916400-2929800	Weak transcription	Fetal Heart	heart
21	chr4:2916800-2924200	Weak transcription	NH-A	brain
22	chr4:2916800-2924800	Weak transcription	Pancreas	Pancrea
23	chr4:2917000-2924000	Weak transcription	HSMM	muscle
24	chr4:2917000-2932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:2917200-2924200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:2917200-2924800	Weak transcription	HepG2	liver
27	chr4:2917400-2924200	Weak transcription	HUVEC	blood vessel
28	chr4:2917400-2925000	Weak transcription	Primary B cells from cord blood	blood
29	chr4:2917400-2925000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:2917600-2925200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:2917800-2924000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:2917800-2924200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:2917800-2924600	Weak transcription	NHEK	skin
34	chr4:2917800-2924800	Weak transcription	Colonic Mucosa	Colon
35	chr4:2917800-2924800	Weak transcription	HMEC	breast
36	chr4:2917800-2925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:2917800-2925000	Weak transcription	Gastric	stomach
38	chr4:2917800-2925000	Weak transcription	Dnd41	blood
39	chr4:2917800-2925200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:2917800-2925400	Weak transcription	NHLF	lung
41	chr4:2917800-2926000	Weak transcription	Aorta	Aorta
42	chr4:2918000-2924200	Weak transcription	Spleen	Spleen
43	chr4:2918000-2925200	Weak transcription	HSMMtube	muscle
44	chr4:2918400-2925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:2918600-2923600	Weak transcription	Fetal Intestine Large	intestine
46	chr4:2918600-2923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:2918600-2923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:2918600-2923800	Weak transcription	Thymus	Thymus
49	chr4:2918600-2924000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:2918600-2924000	Weak transcription	Esophagus	oesophagus

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