Variant report

Variant	rs7536451
Chromosome Location	chr1:227111247-227111248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227111122..227113195-chr1:227117346..227119080,2	K562	blood:
2	chr1:227111187..227114366-chr1:227126730..227128604,3	K562	blood:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57318085	0.87[AFR][1000 genomes]
rs7555710	0.87[AFR][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7536451	ITPKB	cis	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:227088400-227111600	Weak transcription	Spleen	Spleen
3	chr1:227088800-227111400	Weak transcription	A549	lung
4	chr1:227088800-227118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:227092000-227115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:227092000-227118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:227092200-227111600	Weak transcription	Esophagus	oesophagus
8	chr1:227092200-227116200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:227092200-227118800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:227098600-227118600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:227102800-227119000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:227102800-227125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:227107000-227112000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:227108000-227111400	Weak transcription	Right Ventricle	heart
15	chr1:227108200-227121200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:227108600-227111400	Weak transcription	Gastric	stomach
17	chr1:227109600-227111400	Weak transcription	Right Atrium	heart
18	chr1:227109600-227112000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:227109600-227126600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:227110600-227111800	Enhancers	Pancreas	Pancrea
21	chr1:227111200-227111800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:227111200-227112200	Enhancers	Left Ventricle	heart

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