Variant report

Variant	rs2167007
Chromosome Location	chr2:98292992-98292993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98284406..98287115-chr2:98292594..98294105,2	K562	blood:
2	chr2:98292657..98295040-chr2:98297024..98299611,2	K562	blood:
3	chr2:98292299..98294118-chr2:98294260..98295884,2	MCF-7	breast:
4	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000201806	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1042705	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123849	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11893601	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11894651	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12991969	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001139	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003963	0.91[ASN][1000 genomes]
rs13009163	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1375436	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470625	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1550995	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276644	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290124	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3474	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542980	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs873886	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2167007	ANKRD36B	cis	Artery Tibial	GTEx
rs2167007	ZAP70	cis	Nerve Tibial	GTEx
rs2167007	ANKRD36B	cis	Nerve Tibial	GTEx
rs2167007	ANKRD36B	cis	Thyroid	GTEx
rs2167007	TMEM131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
3	chr2:98281600-98293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
5	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
6	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
7	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:98288600-98293600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:98289800-98293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98290400-98293400	Weak transcription	Pancreas	Pancrea
14	chr2:98290400-98294600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:98291200-98293400	Weak transcription	Fetal Heart	heart
16	chr2:98291600-98293000	Weak transcription	GM12878-XiMat	blood
17	chr2:98291600-98298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:98291800-98293400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:98291800-98294800	Weak transcription	K562	blood
20	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:98292600-98293600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links