Variant report

Variant	rs10100297
Chromosome Location	chr8:89310568-89310569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89309729..89311654-chr8:89312036..89314800,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10955556	0.88[AMR][1000 genomes]
rs11986810	0.80[AMR][1000 genomes]
rs13277770	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1394514	0.91[CEU][hapmap]
rs1401864	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504804	0.91[CEU][hapmap]
rs1519930	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1879202	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915024	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844198	0.88[AMR][1000 genomes]
rs3851539	0.84[AFR][1000 genomes]
rs4147332	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4246112	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4246113	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4463475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515601	0.91[CEU][hapmap]
rs4961086	0.81[EUR][1000 genomes]
rs4961087	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7842943	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10100297	NBN	cis	cerebellum	SCAN
rs10100297	MMP16	cis	Thyroid	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89300400-89310600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:89301800-89313000	Weak transcription	Fetal Brain Female	brain
3	chr8:89301800-89315000	Weak transcription	Fetal Stomach	stomach
4	chr8:89302000-89311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:89302000-89326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:89309200-89313000	Enhancers	HUVEC	blood vessel
7	chr8:89309400-89310800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:89309400-89311200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:89309400-89314600	Enhancers	NH-A	brain
10	chr8:89309600-89310600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:89309600-89311000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:89309600-89311200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:89309800-89310600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:89309800-89310600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:89309800-89310600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:89309800-89312000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:89310000-89311000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:89310000-89311200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:89310000-89312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:89310000-89314800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:89310200-89310600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:89310200-89310800	Weak transcription	Aorta	Aorta
23	chr8:89310400-89310800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:89310400-89310800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:89310400-89310800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:89310400-89310800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:89310400-89310800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr8:89310400-89310800	Flanking Active TSS	Osteobl	bone
29	chr8:89310400-89311400	Enhancers	HUES64 Cell Line	embryonic stem cell

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