Variant report

Variant	rs7306755
Chromosome Location	chr12:123767929-123767930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
2	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1060105	0.84[EUR][1000 genomes]
rs10773008	0.85[EUR][1000 genomes]
rs10846515	0.85[EUR][1000 genomes]
rs11057270	0.83[EUR][1000 genomes]
rs12298826	0.81[EUR][1000 genomes]
rs12304248	0.83[EUR][1000 genomes]
rs12821431	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34997336	0.81[EUR][1000 genomes]
rs35067339	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4759420	0.84[EUR][1000 genomes]
rs71444571	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7953929	0.82[EUR][1000 genomes]
rs7955457	0.83[EUR][1000 genomes]
rs9739070	0.94[EUR][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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7306755	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs7306755	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs7306755	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs7306755	RP11-282O18.3	cis	Adipose Subcutaneous	GTEx
rs7306755	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs7306755	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs7306755	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL
rs7306755	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs7306755	CDK2AP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:123757200-123774000	Weak transcription	K562	blood
3	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
4	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
6	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:123757800-123771400	Weak transcription	A549	lung
8	chr12:123758000-123771600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:123758800-123773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:123762800-123773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:123763000-123773800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:123763200-123772800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:123763200-123774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:123763200-123775800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123763400-123773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:123763400-123773400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123763400-123774000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:123763400-123774600	Weak transcription	Primary B cells from cord blood	blood
20	chr12:123763400-123774600	Weak transcription	HUVEC	blood vessel
21	chr12:123763600-123773200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:123763600-123773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:123763600-123773400	Weak transcription	GM12878-XiMat	blood
24	chr12:123763600-123774600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:123763800-123773800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:123766000-123771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:123766200-123780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:123767000-123773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links