Variant report

Variant	rs12151736
Chromosome Location	chr2:211011062-211011063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211009811..211011366-chr2:211033940..211036164,2	MCF-7	breast:
2	chr2:211010718..211013464-chr2:211035621..211037329,2	K562	blood:
3	chr2:211010256..211012532-chr2:211031341..211034097,2	K562	blood:

Variant related genes	Relation type
ENSG00000144445	Chromatin interaction
ENSG00000263530	Chromatin interaction
ENSG00000231294	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12468576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12613036	0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2286963	0.80[JPT][hapmap]
rs3738934	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs3764913	0.87[JPT][hapmap]
rs72990864	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7585265	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs7601356	0.87[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12151736	FLJ23861	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210990600-211018200	Weak transcription	Fetal Heart	heart
2	chr2:210991000-211018200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:210991400-211018200	Weak transcription	HSMMtube	muscle
4	chr2:210991800-211011600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:210992400-211015000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:210994800-211012800	Weak transcription	Stomach Mucosa	stomach
7	chr2:210997200-211022000	Weak transcription	Psoas Muscle	Psoas
8	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:211005400-211020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:211005600-211021000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
12	chr2:211007600-211018000	Weak transcription	HepG2	liver
13	chr2:211008000-211032000	Weak transcription	HSMM	muscle
14	chr2:211008200-211018200	Weak transcription	GM12878-XiMat	blood
15	chr2:211008600-211012400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr2:211008600-211018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:211008800-211012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:211008800-211013200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:211008800-211027200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:211009000-211011200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:211009000-211013200	Strong transcription	Primary B cells from cord blood	blood
22	chr2:211009000-211013200	Strong transcription	Fetal Thymus	thymus
23	chr2:211009200-211011800	Strong transcription	Liver	Liver
24	chr2:211009200-211012000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:211009200-211018200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:211009200-211027200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:211009400-211012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:211009400-211012200	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr2:211009400-211012600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:211009400-211013200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:211009400-211013200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:211009600-211011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:211009600-211011200	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr2:211009600-211011400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:211009600-211012000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr2:211009600-211012000	Strong transcription	Adipose Nuclei	Adipose
37	chr2:211009600-211012000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:211009600-211012000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr2:211009600-211012200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:211009600-211012200	ZNF genes & repeats	Fetal Brain Female	brain
41	chr2:211009600-211012400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:211009600-211012400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:211009600-211012600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:211009600-211012600	Strong transcription	Left Ventricle	heart
45	chr2:211009600-211013200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:211009800-211011200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr2:211009800-211011200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr2:211009800-211011400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:211009800-211012200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:211010000-211011200	Strong transcription	Osteobl	bone

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