Variant report

Variant	rs41393747
Chromosome Location	chr12:9320960-9320961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9320939-9321143	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PZP	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492113	1.00[MEX][hapmap]
rs11836204	0.93[YRI][hapmap];0.95[AFR][1000 genomes]
rs12304948	1.00[MEX][hapmap]
rs16917969	1.00[MEX][hapmap]
rs16918152	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs3026250	1.00[MEX][hapmap]
rs34427370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060501	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063006	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957038	1.00[MEX][hapmap]
rs7980288	1.00[MEX][hapmap]
rs9668937	1.00[MEX][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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9304200-9323200	Strong transcription	Liver	Liver
2	chr12:9305000-9325000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9305600-9323000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9305800-9323000	Weak transcription	Left Ventricle	heart
5	chr12:9306800-9321400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:9309200-9337000	Weak transcription	Primary T cells from cord blood	blood
7	chr12:9313000-9323000	Weak transcription	Hela-S3	cervix
8	chr12:9315600-9323000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:9317600-9322000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9317600-9322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:9317800-9322400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:9318000-9322800	Weak transcription	Spleen	Spleen
13	chr12:9319400-9322400	Enhancers	HUVEC	blood vessel
14	chr12:9319600-9321000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:9319800-9321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:9319800-9322200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:9320000-9321000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:9320200-9321800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:9320200-9322400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:9320200-9323000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:9320200-9323400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:9320400-9321200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:9320600-9322000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:9320600-9322000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:9320800-9321000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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