Variant report

Variant	rs12369322
Chromosome Location	chr12:67012647-67012648
allele	A/C
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]
rs10878465	1.00[EUR][1000 genomes]
rs10878469	1.00[EUR][1000 genomes]
rs10878477	0.90[AFR][1000 genomes]
rs11176313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176334	0.88[EUR][1000 genomes]
rs11176340	0.90[AFR][1000 genomes]
rs11176353	0.90[AFR][1000 genomes]
rs12827756	0.85[AFR][1000 genomes]
rs1353104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34359969	0.98[AFR][1000 genomes]
rs34512292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35414772	1.00[EUR][1000 genomes]
rs7312296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955723	0.92[AFR][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:22 , 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	chr12:67010800-67014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:67010800-67014000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:67010800-67014000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:67010800-67014000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:67010800-67020600	Weak transcription	Thymus	Thymus
8	chr12:67010800-67021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:67011000-67013000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:67011000-67014000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:67011000-67014000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:67011000-67014000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:67011000-67014000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:67011000-67014000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:67011000-67014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:67011000-67014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:67011000-67016400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:67011000-67016600	Weak transcription	Primary B cells from cord blood	blood
19	chr12:67011200-67013800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:67011200-67013800	Weak transcription	NHEK	skin
21	chr12:67011200-67020800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:67012600-67015600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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