Variant report

Variant	rs4722992
Chromosome Location	chr7:30625726-30625727
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	POLR2A	chr7:30625261-30625782	K562	blood:	n/a	n/a
2	CEBPB	chr7:30625411-30625726	MCF-7	breast:	n/a	n/a
3	CEBPB	chr7:30625311-30625750	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000196295	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10227133	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10232372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10237725	0.85[EUR][1000 genomes]
rs10239660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10243040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10249885	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265589	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10480088	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1074373	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10951271	0.82[ASN][1000 genomes]
rs1141114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11761080	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532057	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533961	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228758	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468402	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1558064	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16875282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875285	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009662	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2214837	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240401	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267710	0.84[ASN][1000 genomes]
rs2270025	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2391870	0.81[EUR][1000 genomes]
rs3779250	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807632	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722999	0.85[ASN][1000 genomes]
rs6462211	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947982	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6970688	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6970807	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9648369	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024458	chr7:30601877-30649659	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4722992	LOC222159	Cis_1M	lymphoblastoid	RTeQTL
rs4722992	LOC401320	Cis_1M	lymphoblastoid	RTeQTL
rs4722992	AC005154.6	cis	Esophagus Mucosa	GTEx
rs4722992	AC005154.6	cis	Artery Tibial	GTEx
rs4722992	AC005154.6	cis	Thyroid	GTEx
rs4722992	AC005154.6	cis	lung	GTEx
rs4722992	AC005154.6	cis	Nerve Tibial	GTEx
rs4722992	AC005154.6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:30591200-30633400	Weak transcription	Psoas Muscle	Psoas
2	chr7:30597400-30633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:30601800-30633000	Weak transcription	Hela-S3	cervix
4	chr7:30603200-30628400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:30605600-30628200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:30607000-30633400	Weak transcription	Fetal Kidney	kidney
7	chr7:30612200-30627000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:30612800-30628600	Weak transcription	Stomach Mucosa	stomach
9	chr7:30614000-30633200	Weak transcription	HUVEC	blood vessel
10	chr7:30615600-30633200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:30615600-30633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:30615800-30627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:30616200-30627800	Strong transcription	Primary T cells from cord blood	blood
14	chr7:30617200-30625800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr7:30617200-30626000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:30617200-30626000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:30617200-30627200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:30617400-30626000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:30617600-30626400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:30618000-30633400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:30618000-30633400	Weak transcription	Esophagus	oesophagus
22	chr7:30618400-30633400	Weak transcription	Fetal Brain Male	brain
23	chr7:30618800-30633400	Weak transcription	Brain Substantia Nigra	brain
24	chr7:30618800-30633400	Weak transcription	Colonic Mucosa	Colon
25	chr7:30619200-30632400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:30619200-30633200	Weak transcription	NHLF	lung
27	chr7:30619200-30633400	Weak transcription	Small Intestine	intestine
28	chr7:30619400-30627000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:30620600-30633400	Weak transcription	Pancreas	Pancrea
30	chr7:30620800-30625800	Strong transcription	Osteobl	bone
31	chr7:30621000-30628000	Strong transcription	Primary B cells from cord blood	blood
32	chr7:30621200-30627400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:30621400-30626400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:30622000-30626800	Weak transcription	GM12878-XiMat	blood
35	chr7:30622400-30626200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:30622600-30633400	Weak transcription	NH-A	brain
37	chr7:30622800-30626000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:30623200-30626000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:30623200-30626200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:30623200-30626600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:30623200-30627400	Strong transcription	Dnd41	blood
42	chr7:30623200-30633200	Weak transcription	A549	lung
43	chr7:30623600-30627200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr7:30623800-30626000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:30623800-30626000	Strong transcription	Colon Smooth Muscle	Colon
46	chr7:30624000-30625800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:30624200-30626600	Weak transcription	Fetal Thymus	thymus
48	chr7:30624200-30632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:30624200-30633400	Weak transcription	NHDF-Ad	bronchial
50	chr7:30624400-30627200	Strong transcription	Fetal Stomach	stomach

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