Variant report

Variant	rs17128728
Chromosome Location	chr12:41141847-41141848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11836043	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11837062	0.93[AFR][1000 genomes]
rs1596509	1.00[JPT][hapmap]
rs1596537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596539	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17120936	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128696	1.00[AMR][1000 genomes]
rs17128701	1.00[AMR][1000 genomes]
rs17128710	1.00[AMR][1000 genomes]
rs17128725	0.83[ASN][1000 genomes]
rs17128731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61229393	0.93[AFR][1000 genomes]
rs6581931	1.00[JPT][hapmap]
rs7132869	0.93[AFR][1000 genomes]
rs7301307	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73110881	1.00[EUR][1000 genomes]
rs7966261	1.00[AMR][1000 genomes]
rs7974699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935230	1.00[JPT][hapmap]

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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41133600-41145200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41133800-41162400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41140000-41143000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41141400-41142000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:41141400-41142400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:41141400-41142400	Flanking Active TSS	A549	lung
7	chr12:41141400-41143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:41141600-41142200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:41141600-41142200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:41141600-41142400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:41141600-41142600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:41141600-41142600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:41141800-41142400	Enhancers	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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