Variant report

Variant	rs10468462
Chromosome Location	chr17:16848911-16848912
allele	A/C
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	chr17:16847656-16849067	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:16848877-16849612	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:16845763-16848912	GM18505	blood:	n/a	n/a
4	POLR2A	chr17:16845628-16849512	GM12892	blood:	n/a	n/a
5	CEBPB	chr17:16848800-16848947	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:16846219-16849536	GM12892	blood:	n/a	n/a
7	POLR2A	chr17:16845221-16849358	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:16845998-16849832	GM12892	blood:	n/a	n/a
9	POLR2A	chr17:16846057-16849577	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:16845599-16849822	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:16846165-16849578	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
TNFRSF13B	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10468463	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12325872	0.86[ASN][1000 genomes]
rs12937629	0.90[ASN][1000 genomes]
rs34153813	0.82[EUR][1000 genomes]
rs34694042	0.82[EUR][1000 genomes]
rs35076010	0.82[EUR][1000 genomes]
rs4985783	0.95[ASN][1000 genomes]
rs56369903	0.81[ASN][1000 genomes]
rs7214221	0.86[ASN][1000 genomes]
rs7216399	0.95[ASN][1000 genomes]
rs7218682	0.86[ASN][1000 genomes]
rs7222430	0.97[ASN][1000 genomes]
rs73980239	0.86[ASN][1000 genomes]
rs73980240	0.86[ASN][1000 genomes]
rs73980241	0.86[ASN][1000 genomes]

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	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16842600-16849200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:16844200-16849000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:16844200-16849200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:16844200-16852000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:16846400-16850400	Enhancers	Brain Hippocampus Middle	brain
6	chr17:16846400-16851600	Enhancers	Brain Cingulate Gyrus	brain
7	chr17:16846600-16849400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:16846600-16852000	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr17:16847400-16850400	Genic enhancers	GM12878-XiMat	blood
10	chr17:16847800-16851600	Enhancers	Primary B cells from cord blood	blood
11	chr17:16848000-16849400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:16848000-16849400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr17:16848000-16849400	Strong transcription	Spleen	Spleen
14	chr17:16848200-16849000	Weak transcription	Brain Anterior Caudate	brain
15	chr17:16848200-16849000	Bivalent Enhancer	HepG2	liver
16	chr17:16848200-16849600	Enhancers	Pancreas	Pancrea
17	chr17:16848200-16849800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr17:16848600-16849400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr17:16848600-16849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr17:16848600-16850400	Enhancers	Brain Angular Gyrus	brain
21	chr17:16848600-16851800	Enhancers	Brain Substantia Nigra	brain
22	chr17:16848800-16849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:16848800-16849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:16848800-16849400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr17:16848800-16849400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr17:16848800-16849400	Enhancers	A549	lung
27	chr17:16848800-16849600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:16848800-16849600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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