Variant report

Variant	rs56199722
Chromosome Location	chr7:128216071-128216072
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12669878	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12670251	0.83[ASN][1000 genomes]
rs1839595	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4448212	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4490755	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4731485	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58210776	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59475830	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59955357	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61031958	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61479217	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62481155	0.83[AFR][1000 genomes]
rs62481886	0.86[ASN][1000 genomes]
rs62481894	0.85[ASN][1000 genomes]
rs62481898	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62481925	0.81[AMR][1000 genomes]
rs62481947	0.83[AMR][1000 genomes]
rs62483264	0.86[AFR][1000 genomes]
rs62483280	0.83[ASN][1000 genomes]
rs62483285	0.81[ASN][1000 genomes]
rs62483299	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483349	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483350	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6946411	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6973650	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809300	0.83[ASN][1000 genomes]
rs9690750	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv1810084	chr7:128201902-128248697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1829966	chr7:128201902-128248697	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1847512	chr7:128201902-128248697	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv966885	chr7:128212815-128256300	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs56199722	RP11-274B21.4	cis	Whole Blood	GTEx
rs56199722	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs56199722	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs56199722	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs56199722	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
2	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
3	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
4	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:128174000-128220600	Weak transcription	NHLF	lung
6	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
9	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
11	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
12	chr7:128187600-128232000	Weak transcription	NH-A	brain
13	chr7:128188000-128220800	Weak transcription	NHEK	skin
14	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
15	chr7:128188200-128229800	Weak transcription	HSMM	muscle
16	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood
17	chr7:128188400-128231200	Weak transcription	Pancreas	Pancrea
18	chr7:128188800-128231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:128189200-128220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:128190600-128220400	Weak transcription	NHDF-Ad	bronchial
21	chr7:128191200-128226000	Weak transcription	Ovary	ovary
22	chr7:128191400-128220600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:128191400-128232000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:128199400-128231800	Weak transcription	HSMMtube	muscle
26	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
27	chr7:128201600-128225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:128201600-128225600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:128205200-128231800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:128205400-128224600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:128208200-128233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:128208800-128231800	Weak transcription	HMEC	breast
34	chr7:128208800-128232600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:128209400-128220200	Weak transcription	A549	lung
36	chr7:128211000-128220000	Weak transcription	Spleen	Spleen
37	chr7:128211000-128220200	Weak transcription	Primary B cells from cord blood	blood
38	chr7:128211000-128220400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:128211000-128231800	Weak transcription	Psoas Muscle	Psoas
40	chr7:128212800-128233000	Weak transcription	Brain Germinal Matrix	brain
41	chr7:128213200-128231800	Weak transcription	Brain Angular Gyrus	brain
42	chr7:128213400-128231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:128213400-128238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:128213800-128216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:128213800-128216200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:128214000-128231800	Weak transcription	Brain Anterior Caudate	brain
47	chr7:128214400-128216200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:128214400-128216200	Strong transcription	Fetal Thymus	thymus
49	chr7:128214400-128231800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128214400-128231800	Weak transcription	Brain Inferior Temporal Lobe	brain

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