Variant report

Variant	rs2765252
Chromosome Location	chr1:62747829-62747830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12074855	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12080183	1.00[AMR][1000 genomes]
rs12089198	1.00[AMR][1000 genomes]
rs12093449	1.00[AMR][1000 genomes]

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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62732400-62748400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62734200-62750800	Weak transcription	Gastric	stomach
3	chr1:62738000-62749000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62738200-62751200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:62744800-62750800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:62745600-62749200	Weak transcription	Fetal Thymus	thymus
7	chr1:62745800-62748600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:62746400-62748000	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr1:62746400-62748800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:62746400-62749000	Weak transcription	Fetal Heart	heart
11	chr1:62746800-62748000	Weak transcription	Fetal Stomach	stomach
12	chr1:62747000-62749000	Weak transcription	Fetal Kidney	kidney
13	chr1:62747200-62748000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:62747200-62749200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:62747200-62749200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:62747200-62749200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:62747200-62749400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:62747200-62751600	Weak transcription	Liver	Liver
19	chr1:62747400-62748200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr1:62747400-62748400	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:62747400-62749000	Weak transcription	Fetal Lung	lung
22	chr1:62747400-62749000	Weak transcription	HepG2	liver
23	chr1:62747400-62750600	Weak transcription	Pancreas	Pancrea
24	chr1:62747600-62748400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:62747600-62748400	Enhancers	HMEC	breast
26	chr1:62747600-62748400	Enhancers	NH-A	brain
27	chr1:62747600-62751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:62747800-62748000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:62747800-62748800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr1:62747800-62749000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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