Variant report

Variant	rs10947457
Chromosome Location	chr6:33814147-33814148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33806579..33810585-chr6:33811997..33816952,7	K562	blood:
2	chr6:33812945..33816387-chr6:33817009..33820536,6	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10947456	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154035	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202348	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12206096	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12209375	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34065257	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34945102	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35123674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35387652	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72896152	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885774	chr6:33778964-33840121	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv885775	chr6:33788055-33828178	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1032074	chr6:33795671-33835988	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1022403	chr6:33795671-33847345	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33805400-33833400	Weak transcription	Right Atrium	heart
2	chr6:33806600-33818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:33807200-33819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:33808600-33818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:33808600-33819400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:33809600-33823200	Weak transcription	Spleen	Spleen
7	chr6:33810800-33819200	Weak transcription	A549	lung
8	chr6:33811200-33814200	Weak transcription	NH-A	brain
9	chr6:33811200-33818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:33811600-33815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:33811600-33816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:33811800-33818600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:33811800-33819200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:33812400-33814600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:33812400-33814600	Enhancers	NHEK	skin
16	chr6:33812600-33815000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:33813000-33815000	Enhancers	HMEC	breast
18	chr6:33813400-33814600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:33813600-33814400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:33813600-33814400	Enhancers	NHDF-Ad	bronchial
21	chr6:33813600-33816400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:33813800-33814400	Weak transcription	HSMM	muscle
23	chr6:33813800-33816000	Weak transcription	Placenta	Placenta
24	chr6:33814000-33814400	Enhancers	Muscle Satellite Cultured Cells	--

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