Variant report

Variant	rs10099498
Chromosome Location	chr8:39807834-39807835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10089533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10216703	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10958575	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11783682	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2001211	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2007028	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2340951	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2543043	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2543045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2543048	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2543052	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2543083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2543084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2543085	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729463	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729487	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729489	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729491	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28666749	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41324645	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66694577	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6983467	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6990252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7008770	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820690	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10099498	TM2D2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39797800-39808400	Weak transcription	Fetal Lung	lung
2	chr8:39797800-39808800	Weak transcription	Left Ventricle	heart
3	chr8:39802800-39808800	Weak transcription	Lung	lung
4	chr8:39803400-39809200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:39804400-39809200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:39805000-39809800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:39805400-39810200	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:39805600-39808000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:39805600-39808200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:39805600-39808600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:39805600-39809200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:39805800-39808000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:39806000-39817000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:39806200-39810000	Active TSS	Liver	Liver
15	chr8:39806800-39808000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:39807000-39808200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:39807000-39809400	Weak transcription	A549	lung
18	chr8:39807200-39809000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:39807600-39808000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:39807600-39808200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:39807600-39808800	Weak transcription	K562	blood
22	chr8:39807600-39809000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:39807600-39809000	Enhancers	GM12878-XiMat	blood
24	chr8:39807600-39809600	Enhancers	Primary B cells from cord blood	blood
25	chr8:39807800-39808000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:39807800-39808400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr8:39807800-39808400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:39807800-39808600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:39807800-39809200	Enhancers	Placenta	Placenta

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