Variant report

Variant	rs2784934
Chromosome Location	chr10:98891339-98891340
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	chr10:98889238..98892726-chr10:98895337..98898197,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2065862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636782	0.84[ASW][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2636783	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2784936	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817698	0.84[ASW][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2817706	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2817708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817712	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2784934	CWF19L1	cis	parietal	SCAN
rs2784934	CWF19L1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98880200-98912800	Weak transcription	Thymus	Thymus
2	chr10:98880400-98891600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:98887200-98891400	Enhancers	Brain Angular Gyrus	brain
4	chr10:98887200-98892800	Enhancers	Brain Germinal Matrix	brain
5	chr10:98887200-98895000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:98887400-98892200	Enhancers	Fetal Brain Male	brain
7	chr10:98887400-98894200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:98888600-98892600	Enhancers	Fetal Lung	lung
9	chr10:98888600-98893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:98888800-98892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:98888800-98893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:98888800-98894600	Weak transcription	Fetal Brain Female	brain
13	chr10:98889000-98892400	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:98890000-98891600	Bivalent Enhancer	HepG2	liver
15	chr10:98890000-98892000	Enhancers	Brain Anterior Caudate	brain
16	chr10:98890600-98891600	Enhancers	Brain Substantia Nigra	brain
17	chr10:98890600-98892000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:98890600-98892400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr10:98890600-98892400	Enhancers	Fetal Muscle Leg	muscle
20	chr10:98890600-98897800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:98890800-98891400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:98890800-98891400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:98890800-98891400	Enhancers	Colon Smooth Muscle	Colon
24	chr10:98890800-98891400	Weak transcription	Fetal Thymus	thymus
25	chr10:98890800-98891400	Enhancers	Lung	lung
26	chr10:98890800-98891600	Enhancers	Fetal Heart	heart
27	chr10:98890800-98892000	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr10:98890800-98892000	Enhancers	HSMMtube	muscle
29	chr10:98890800-98892200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:98890800-98892400	Enhancers	Fetal Stomach	stomach
31	chr10:98891000-98891400	Enhancers	Left Ventricle	heart
32	chr10:98891000-98891400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr10:98891200-98891400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:98891200-98892000	Enhancers	HSMM	muscle
35	chr10:98891200-98892200	Enhancers	Right Ventricle	heart

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