Variant report

Variant	rs12048671
Chromosome Location	chr1:161701641-161701642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10494356	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10799934	0.95[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10917746	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs10917753	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10917754	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10917809	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs11586479	0.91[ASN][1000 genomes]
rs12567036	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16858529	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16858733	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs1954174	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs2050887	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4468140	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6427620	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697814	0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67476681	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72704099	0.84[ASN][1000 genomes]
rs7522783	0.91[ASN][1000 genomes]
rs7525788	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7549967	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905592	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription 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 lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161697800-161706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:161698000-161702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:161698000-161703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:161698000-161703400	Enhancers	K562	blood
5	chr1:161698000-161706000	Enhancers	NHEK	skin
6	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:161698400-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:161698600-161705600	Weak transcription	A549	lung
9	chr1:161698800-161702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:161699200-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:161699200-161707400	Enhancers	HMEC	breast
12	chr1:161700000-161701800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:161700000-161702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:161700600-161702600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:161700600-161702800	Weak transcription	HSMM	muscle
18	chr1:161700600-161702800	Weak transcription	NHLF	lung
19	chr1:161700600-161703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:161700600-161703000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:161700600-161705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:161700600-161705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:161700600-161706000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:161700600-161706200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:161700800-161702600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:161700800-161702600	Weak transcription	NHDF-Ad	bronchial
27	chr1:161700800-161702800	Weak transcription	HUVEC	blood vessel
28	chr1:161700800-161702800	Weak transcription	Osteobl	bone
29	chr1:161700800-161703000	Weak transcription	NH-A	brain
30	chr1:161700800-161705000	Weak transcription	GM12878-XiMat	blood
31	chr1:161700800-161705600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:161700800-161706000	Weak transcription	Hela-S3	cervix
33	chr1:161701000-161706000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:161701400-161704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:161701400-161706000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:161701600-161702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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