Variant report

Variant	rs12062348
Chromosome Location	chr1:170463024-170463025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10733056	1.00[AMR][1000 genomes]
rs10753814	1.00[AMR][1000 genomes]
rs10753815	1.00[AMR][1000 genomes]
rs10919425	1.00[AMR][1000 genomes]
rs10919434	1.00[AMR][1000 genomes]
rs12068399	0.91[YRI][hapmap]
rs12072089	1.00[AMR][1000 genomes]
rs12087798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12116909	1.00[AMR][1000 genomes]
rs1333133	1.00[AMR][1000 genomes]
rs1333156	1.00[AMR][1000 genomes]
rs1412895	1.00[AMR][1000 genomes]
rs1537397	1.00[AMR][1000 genomes]
rs1576980	1.00[AMR][1000 genomes]
rs16863435	0.90[YRI][hapmap]
rs1855221	1.00[AMR][1000 genomes]
rs2104918	1.00[AMR][1000 genomes]
rs2150029	1.00[AMR][1000 genomes]
rs2225322	1.00[AMR][1000 genomes]
rs2901401	1.00[AMR][1000 genomes]
rs4233350	1.00[AMR][1000 genomes]
rs4656769	1.00[AMR][1000 genomes]
rs4656775	1.00[AMR][1000 genomes]
rs4656777	1.00[AMR][1000 genomes]
rs4656779	1.00[AMR][1000 genomes]
rs57462154	1.00[AMR][1000 genomes]
rs57674813	1.00[AMR][1000 genomes]
rs6657164	1.00[AMR][1000 genomes]
rs6660575	1.00[AMR][1000 genomes]
rs6676081	1.00[AMR][1000 genomes]
rs6680083	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703801	1.00[AMR][1000 genomes]
rs7531125	1.00[AMR][1000 genomes]
rs7538125	1.00[AMR][1000 genomes]
rs7548443	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170460600-170464400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:170461000-170463200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:170461000-170463400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:170461000-170463400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:170461000-170463600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:170461000-170464000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:170462600-170463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:170462600-170463800	Enhancers	Dnd41	blood
9	chr1:170462800-170463800	Enhancers	HUVEC	blood vessel
10	chr1:170462800-170464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:170462800-170465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:170463000-170463400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:170463000-170463400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:170463000-170464200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:170463000-170464400	Enhancers	Adipose Nuclei	Adipose
16	chr1:170463000-170464600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:170463000-170464600	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:170463000-170465200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:170463000-170465200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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