Variant report

Variant	rs10090707
Chromosome Location	chr8:103373304-103373305
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	chr8:103371293..103374711-chr8:103423320..103425587,3	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10091086	1.00[CHB][hapmap]
rs10099641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs10102559	1.00[CHB][hapmap]
rs10103923	1.00[CHB][hapmap]
rs10108510	1.00[CHB][hapmap]
rs10108699	1.00[CHB][hapmap]
rs10112713	1.00[CHB][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs10156286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283189	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10481100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10481101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs12114813	1.00[CHB][hapmap]
rs12707772	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs13250340	0.87[EUR][1000 genomes]
rs13258207	1.00[CHB][hapmap]
rs13267556	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13278798	1.00[MEX][hapmap]
rs2061299	0.82[MEX][hapmap]
rs2168689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs28421590	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2925778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925782	0.86[AFR][1000 genomes]
rs2925783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs2925784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2925785	1.00[CHB][hapmap]
rs2925786	0.82[EUR][1000 genomes]
rs2925787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2925791	1.00[CHB][hapmap]
rs2978420	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2978421	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2978424	1.00[CHB][hapmap]
rs2978425	1.00[CHB][hapmap]
rs2978426	1.00[CHB][hapmap]
rs2978432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3018507	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3018536	1.00[CHB][hapmap]
rs3018537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3018542	1.00[CHB][hapmap]
rs3018543	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs4483125	1.00[MEX][hapmap]
rs7840202	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs9649999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9650000	1.00[MEX][hapmap]
rs9650002	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
10	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10090707	EXOSC10	trans	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
3	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
8	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:103354000-103378400	Weak transcription	Fetal Brain Male	brain
11	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
13	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
14	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:103355400-103373600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:103359200-103374600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:103359400-103375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:103359800-103377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:103359800-103379400	Weak transcription	Pancreas	Pancrea
20	chr8:103359800-103380600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:103360200-103379600	Weak transcription	Spleen	Spleen
22	chr8:103360400-103380600	Weak transcription	Esophagus	oesophagus
23	chr8:103361000-103373400	Strong transcription	Placenta	Placenta
24	chr8:103361600-103377400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:103362000-103373800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:103362200-103373400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:103362200-103373600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:103362200-103379200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:103363000-103373400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:103363600-103375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:103364600-103373400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103364600-103373400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:103364600-103373600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:103365200-103373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:103365200-103373400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:103365400-103379400	Weak transcription	Gastric	stomach
37	chr8:103365400-103387800	Weak transcription	Stomach Mucosa	stomach
38	chr8:103365800-103387600	Weak transcription	Fetal Heart	heart
39	chr8:103366000-103373400	Strong transcription	HSMM	muscle
40	chr8:103366000-103380200	Weak transcription	NHLF	lung
41	chr8:103366800-103373400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:103367200-103373400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:103367200-103373600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:103367400-103373400	Strong transcription	Primary T cells from cord blood	blood
45	chr8:103368800-103373400	Strong transcription	Osteobl	bone
46	chr8:103369200-103373400	Strong transcription	NHDF-Ad	bronchial
47	chr8:103369800-103379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
49	chr8:103370000-103379400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:103370000-103379600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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