Variant report

Variant	rs73127126
Chromosome Location	chr12:67010693-67010694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10506487	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176269	1.00[ASN][1000 genomes]
rs12367359	1.00[ASN][1000 genomes]
rs1493487	1.00[ASN][1000 genomes]
rs17102710	1.00[ASN][1000 genomes]
rs17102740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029692	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913348	1.00[ASN][1000 genomes]
rs56134325	1.00[ASN][1000 genomes]
rs73125060	1.00[ASN][1000 genomes]
rs73125073	1.00[ASN][1000 genomes]
rs73125085	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127184	1.00[ASN][1000 genomes]
rs73128833	1.00[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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3325978	chr12:66920993-67016708	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67009400-67015400	Enhancers	Dnd41	blood
2	chr12:67009600-67015400	Enhancers	GM12878-XiMat	blood
3	chr12:67009800-67011000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:67010000-67011000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:67010200-67010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:67010200-67010800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:67010200-67010800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:67010200-67011000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:67010200-67011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:67010200-67011000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:67010200-67011000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:67010200-67011000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:67010200-67011000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:67010200-67011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:67010200-67011000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:67010200-67011000	Enhancers	Primary B cells from cord blood	blood
17	chr12:67010200-67011000	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:67010200-67011000	Enhancers	Fetal Thymus	thymus
19	chr12:67010200-67011200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:67010200-67011200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:67010400-67010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:67010400-67010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:67010400-67010800	Enhancers	Thymus	Thymus
24	chr12:67010400-67011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:67010400-67011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:67010600-67011000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:67010600-67011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:67010600-67011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:67010600-67011200	Enhancers	NHEK	skin
30	chr12:67010600-67012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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