Variant report

Variant	rs714743
Chromosome Location	chr22:28261630-28261631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28253925..28256869-chr22:28259144..28262465,3	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12160891	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138644	0.87[JPT][hapmap]
rs2073028	0.81[JPT][hapmap];1.00[MEX][hapmap]
rs2143180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267123	0.86[CHD][hapmap]
rs2267125	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345019	1.00[CEU][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28372773	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752651	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752670	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5762398	0.89[AMR][1000 genomes]
rs5762400	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs5762404	0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes]
rs5762410	1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762412	0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5762428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997318	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997320	0.81[ASN][1000 genomes]
rs6005674	0.93[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73166732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
2	chr22:28243800-28274000	Strong transcription	Dnd41	blood
3	chr22:28244000-28261800	Strong transcription	HMEC	breast
4	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:28248600-28263000	Weak transcription	Right Atrium	heart
8	chr22:28249800-28262200	Weak transcription	Fetal Brain Male	brain
9	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:28252200-28262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:28252800-28265000	Weak transcription	K562	blood
12	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:28254000-28264200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:28254000-28264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
17	chr22:28254200-28262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:28254200-28263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:28254200-28263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
21	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
22	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
23	chr22:28254600-28263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:28255800-28262400	Weak transcription	Fetal Heart	heart
27	chr22:28256000-28262600	Weak transcription	Aorta	Aorta
28	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
29	chr22:28256200-28263200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:28256200-28263600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:28256800-28263400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr22:28257400-28264200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr22:28257600-28263200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:28257800-28262200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:28258000-28262000	Weak transcription	Fetal Kidney	kidney
37	chr22:28258000-28263200	Weak transcription	Fetal Thymus	thymus
38	chr22:28258200-28262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:28258200-28263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:28258200-28263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:28258200-28263600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:28258200-28264200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:28258200-28267400	Weak transcription	Lung	lung
45	chr22:28258200-28267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:28258400-28262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:28258400-28263800	Weak transcription	Thymus	Thymus
49	chr22:28258400-28266400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr22:28258600-28266400	Enhancers	Fetal Lung	lung

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