Variant report

Variant	rs56320268
Chromosome Location	chr5:112137349-112137350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112121866..112123891-chr5:112136309..112139852,3	K562	blood:
2	chr5:112129867..112132143-chr5:112136582..112139044,2	K562	blood:
3	chr5:112137172..112140072-chr5:112143234..112145432,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs17135067	1.00[EUR][1000 genomes]
rs17135193	0.80[EUR][1000 genomes]
rs17285372	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285666	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17285827	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17286230	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17290064	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311019	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311096	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17357294	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17359859	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360045	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369211	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17370550	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17371015	0.86[EUR][1000 genomes]
rs1833560	0.80[EUR][1000 genomes]
rs2229997	1.00[AFR][1000 genomes]
rs55684649	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55771309	1.00[AFR][1000 genomes]
rs55771959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798475	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56052440	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56194248	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218335	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235416	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56321569	0.86[EUR][1000 genomes]
rs56328836	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405915	0.87[EUR][1000 genomes]
rs57043077	1.00[EUR][1000 genomes]
rs60532731	0.87[EUR][1000 genomes]
rs6862066	1.00[AFR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs6879615	1.00[AFR][1000 genomes]
rs6882720	1.00[AFR][1000 genomes]
rs73216225	0.86[EUR][1000 genomes]
rs73220038	1.00[EUR][1000 genomes]
rs73220063	0.80[EUR][1000 genomes]
rs7700326	1.00[AFR][1000 genomes]
rs7704566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7726765	1.00[AFR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.80[EUR][1000 genomes]
rs7730944	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7734810	1.00[AFR][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	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
5	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112115800-112151200	Weak transcription	NHEK	skin
7	chr5:112118200-112151200	Weak transcription	Gastric	stomach
8	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
9	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
10	chr5:112123600-112141800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112124000-112144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:112125000-112140000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:112126800-112142000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:112127800-112140000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:112129000-112144200	Weak transcription	Esophagus	oesophagus
16	chr5:112129000-112149800	Weak transcription	Left Ventricle	heart
17	chr5:112129000-112151600	Weak transcription	Hela-S3	cervix
18	chr5:112129000-112154600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:112129000-112157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:112129400-112163800	Weak transcription	Small Intestine	intestine
21	chr5:112129600-112163600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:112129800-112154800	Weak transcription	NH-A	brain
23	chr5:112130400-112145800	Weak transcription	Placenta	Placenta
24	chr5:112130600-112144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:112130600-112150000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:112130600-112150200	Weak transcription	NHLF	lung
27	chr5:112130600-112154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112130600-112155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:112130600-112155600	Weak transcription	Fetal Heart	heart
30	chr5:112130800-112138200	Weak transcription	HMEC	breast
31	chr5:112130800-112139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:112130800-112143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:112130800-112146600	Weak transcription	HSMMtube	muscle
34	chr5:112130800-112149800	Weak transcription	Lung	lung
35	chr5:112130800-112150000	Weak transcription	Spleen	Spleen
36	chr5:112130800-112150200	Weak transcription	Aorta	Aorta
37	chr5:112130800-112151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:112130800-112151400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:112130800-112154800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:112130800-112155400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:112131000-112140800	Weak transcription	Osteobl	bone
42	chr5:112131000-112142400	Weak transcription	Fetal Intestine Small	intestine
43	chr5:112131000-112144200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:112131200-112138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:112131200-112140000	Weak transcription	Fetal Stomach	stomach
46	chr5:112131200-112146400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:112131200-112151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:112131200-112151200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:112131400-112146600	Weak transcription	Ovary	ovary
50	chr5:112131400-112151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links