Variant report

Variant	rs12994023
Chromosome Location	chr2:37385057-37385058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr2:37384070-37385107	GM12878	blood:	n/a	n/a
2	MTA3	chr2:37384464-37385066	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37370415..37372075-chr2:37384482..37387450,2	K562	blood:
2	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:
3	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
4	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
5	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
6	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
7	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2AK2	TF binding region
ENSG00000218739	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000115816	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10187017	0.96[ASN][1000 genomes]
rs10201149	0.95[ASN][1000 genomes]
rs11894414	0.86[ASN][1000 genomes]
rs11894449	0.86[ASN][1000 genomes]
rs11899117	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11904602	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12475964	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12619587	0.97[ASN][1000 genomes]
rs12620426	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12712526	0.86[ASN][1000 genomes]
rs12992610	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12992818	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994644	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13008236	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008681	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020602	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13026696	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13027513	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2014498	0.97[ASN][1000 genomes]
rs2254958	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270414	0.83[ASN][1000 genomes]
rs3856500	0.96[ASN][1000 genomes]
rs3936292	0.95[ASN][1000 genomes]
rs4670662	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670663	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4670664	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4670665	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7340267	0.97[ASN][1000 genomes]
rs7575957	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7580127	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7580323	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7580428	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs759667	0.96[ASN][1000 genomes]
rs7606786	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326671	chr2:37383073-37385621	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12994023	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37384600-37385200	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr2:37384600-37385800	Enhancers	Brain Substantia Nigra	brain
3	chr2:37384800-37385200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:37384800-37385200	Enhancers	Fetal Intestine Large	intestine
5	chr2:37384800-37385400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37384800-37385600	Enhancers	Adipose Nuclei	Adipose
7	chr2:37384800-37385600	Enhancers	Fetal Intestine Small	intestine
8	chr2:37384800-37385600	Enhancers	NHEK	skin
9	chr2:37384800-37385800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:37384800-37385800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:37384800-37386000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:37384800-37386000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:37384800-37387200	Weak transcription	Esophagus	oesophagus
14	chr2:37385000-37385200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:37385000-37385200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:37385000-37385200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:37385000-37385600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:37385000-37385600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:37385000-37385600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:37385000-37385600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:37385000-37385600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:37385000-37385600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:37385000-37385600	Enhancers	Dnd41	blood
24	chr2:37385000-37385600	Enhancers	GM12878-XiMat	blood
25	chr2:37385000-37385800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:37385000-37385800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:37385000-37385800	Enhancers	Brain Anterior Caudate	brain
28	chr2:37385000-37385800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:37385000-37386000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:37385000-37386600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:37385000-37386600	Enhancers	Brain Angular Gyrus	brain
32	chr2:37385000-37386600	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:37385000-37387200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:37385000-37388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links