Variant report

Variant	rs7914872
Chromosome Location	chr10:98817687-98817688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11188997	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11188998	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11595198	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2805591	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7902871	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs902470	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1042398	chr10:98691406-98851346	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv2758236	chr10:98789963-98962472	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759777	chr10:98789963-98962472	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1037576	chr10:98791099-98873649	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895912	chr10:98794615-98838694	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1039568	chr10:98800844-98868329	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1040262	chr10:98805336-98872134	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7914872	CEP55	cis	cerebellum	SCAN
rs7914872	ENTPD7	cis	cerebellum	SCAN
rs7914872	PIPSL	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98797800-98830800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:98798000-98818000	Weak transcription	Brain Angular Gyrus	brain
3	chr10:98798000-98818000	Weak transcription	Brain Anterior Caudate	brain
4	chr10:98798200-98819200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:98807000-98820400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:98809000-98819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:98810000-98818400	Weak transcription	Thymus	Thymus
8	chr10:98812600-98826600	Strong transcription	Fetal Thymus	thymus
9	chr10:98813200-98817800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:98813400-98826400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:98814000-98818200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:98815000-98819000	Weak transcription	Fetal Stomach	stomach
13	chr10:98816200-98819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:98816200-98820800	Enhancers	Fetal Brain Male	brain
15	chr10:98817000-98817800	Weak transcription	Brain Germinal Matrix	brain
16	chr10:98817200-98818000	Bivalent Enhancer	HepG2	liver
17	chr10:98817600-98817800	Genic enhancers	Fetal Brain Female	brain
18	chr10:98817600-98819000	Enhancers	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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