Variant report

Variant	rs2817711
Chromosome Location	chr10:98895834-98895835
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98895047..98897356-chr10:98912806..98914743,2	K562	blood:
2	chr10:98889238..98892726-chr10:98895337..98898197,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1490691	0.84[MEX][hapmap]
rs2484879	0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2636774	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636784	0.80[MEX][hapmap]
rs2636813	0.81[EUR][1000 genomes]
rs2636817	0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs2784938	0.81[EUR][1000 genomes]
rs2817647	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2817693	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs2817694	0.80[MEX][hapmap]
rs2817701	0.80[MEX][hapmap]
rs2817703	0.81[EUR][1000 genomes]
rs2817704	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2817705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2817707	0.82[EUR][1000 genomes]
rs2817709	0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2817710	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2817713	0.92[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875483	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs875484	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs902469	0.84[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs902473	0.81[EUR][1000 genomes]
rs902474	0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs902475	0.82[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2817711	C10orf131	cis	cerebellum	SCAN
rs2817711	GOLGA7B	cis	cerebellum	SCAN
rs2817711	FRAT1	cis	parietal	SCAN
rs2817711	DHDPSL	cis	parietal	SCAN
rs2817711	MORN4	cis	cerebellum	SCAN
rs2817711	PDZD7	cis	cerebellum	SCAN
rs2817711	POLR2H	trans	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98880200-98912800	Weak transcription	Thymus	Thymus
2	chr10:98890600-98897800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:98892000-98898600	Weak transcription	Brain Anterior Caudate	brain
4	chr10:98892000-98899600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:98892200-98899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:98892200-98899800	Strong transcription	Fetal Thymus	thymus
7	chr10:98892400-98898000	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:98892400-98898800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:98892400-98911400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:98892600-98896800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:98894200-98897400	Weak transcription	Fetal Brain Male	brain
12	chr10:98894400-98896600	Enhancers	GM12878-XiMat	blood
13	chr10:98894400-98899600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:98894800-98899600	Enhancers	HepG2	liver
15	chr10:98895000-98898200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:98895200-98896400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:98895200-98898000	Weak transcription	Fetal Lung	lung
18	chr10:98895400-98898400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:98895400-98898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr10:98895400-98898800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:98895400-98899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:98895600-98899600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:98895600-98899600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:98895600-98899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:98895800-98897800	Weak transcription	Brain Germinal Matrix	brain
26	chr10:98895800-98898000	Weak transcription	Fetal Brain Female	brain
27	chr10:98895800-98898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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