Variant report

Variant	rs12052383
Chromosome Location	chr2:151472497-151472498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151470355..151472539-chr2:151472682..151474770,2	K562	blood:
2	chr2:151466148..151468883-chr2:151471106..151473302,2	MCF-7	breast:
3	chr2:151471840..151473581-chr2:151481556..151483221,2	K562	blood:
4	chr2:151470812..151473719-chr2:151475994..151479335,3	K562	blood:

Variant related genes	Relation type
ENSG00000232359	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16828368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16828372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341059	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2341060	0.91[CHB][hapmap]
rs2341061	0.91[CHB][hapmap]
rs2341062	0.90[CHB][hapmap]
rs2341064	0.91[CHB][hapmap]
rs2341065	0.89[CHB][hapmap]
rs2341066	0.91[CHB][hapmap]
rs2341068	0.90[CHB][hapmap]
rs28617484	0.92[ASN][1000 genomes]
rs4297879	0.90[CHB][hapmap]
rs4334493	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4664689	0.90[CHB][hapmap]
rs56767144	0.92[ASN][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	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151464400-151476200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:151467000-151475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:151467200-151474200	Weak transcription	HSMM	muscle
4	chr2:151467400-151474200	Weak transcription	HMEC	breast
5	chr2:151467400-151476200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:151467400-151476200	Weak transcription	Osteobl	bone
7	chr2:151468200-151480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:151469800-151474200	Weak transcription	NH-A	brain
9	chr2:151470000-151472800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:151470000-151474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:151470000-151474600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:151470000-151477600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:151470200-151474000	Weak transcription	NHDF-Ad	bronchial
14	chr2:151470200-151474200	Weak transcription	Aorta	Aorta
15	chr2:151470200-151474200	Weak transcription	NHLF	lung
16	chr2:151470200-151474400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:151470200-151476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:151470200-151476600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:151470200-151476600	Weak transcription	Right Atrium	heart
20	chr2:151470200-151477600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:151470200-151480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:151470400-151473800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:151470400-151474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:151470400-151474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:151470400-151474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:151470400-151474600	Weak transcription	NHEK	skin
27	chr2:151470400-151475200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:151470600-151474200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:151470600-151476200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:151470800-151474000	Weak transcription	HSMMtube	muscle
31	chr2:151470800-151474200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:151470800-151476600	Weak transcription	Fetal Lung	lung
33	chr2:151471000-151473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:151471800-151476200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links