Variant report

Variant	rs10100182
Chromosome Location	chr8:87474276-87474277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10086188	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10089169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10089253	0.93[ASN][1000 genomes]
rs10090898	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10090963	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10092168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10094332	0.90[ASN][1000 genomes]
rs10095589	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097866	0.93[ASN][1000 genomes]
rs10098365	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100247	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100254	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106390	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10106855	0.84[EUR][1000 genomes]
rs10107117	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107571	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108586	0.93[ASN][1000 genomes]
rs10110096	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481195	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956871	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11774499	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776698	0.93[ASN][1000 genomes]
rs11783382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11984519	1.00[ASN][1000 genomes]
rs11986423	0.90[ASN][1000 genomes]
rs11994508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11997927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11998558	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155979	0.87[ASN][1000 genomes]
rs12155981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16915375	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16915389	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17681534	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17681826	0.82[JPT][hapmap]
rs28397606	1.00[ASN][1000 genomes]
rs28416254	1.00[ASN][1000 genomes]
rs28438974	0.90[ASN][1000 genomes]
rs28514445	0.90[ASN][1000 genomes]
rs28540009	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28613262	0.90[ASN][1000 genomes]
rs28680173	0.84[ASN][1000 genomes]
rs28687116	0.90[ASN][1000 genomes]
rs2953512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953518	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976176	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3087641	1.00[ASN][1000 genomes]
rs4440616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs57638937	0.91[ASN][1000 genomes]
rs58837061	0.93[ASN][1000 genomes]
rs6651177	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651268	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67332431	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980476	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992624	1.00[ASN][1000 genomes]
rs7015772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7018083	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72690416	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690443	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690445	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690447	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690455	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690457	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690474	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688856	0.93[ASN][1000 genomes]
rs73688857	0.97[ASN][1000 genomes]
rs73688858	0.97[ASN][1000 genomes]
rs73688859	0.90[ASN][1000 genomes]
rs73688862	0.97[ASN][1000 genomes]
rs7818436	1.00[ASN][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7824873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7833201	0.87[ASN][1000 genomes]
rs7843399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7844014	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297913	1.00[ASN][1000 genomes]
rs9650128	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10100182	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:87444400-87488800	Weak transcription	NHLF	lung
9	chr8:87447200-87476800	Weak transcription	Gastric	stomach
10	chr8:87447200-87476800	Weak transcription	Spleen	Spleen
11	chr8:87448400-87476800	Weak transcription	Aorta	Aorta
12	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:87449400-87476800	Weak transcription	Lung	lung
15	chr8:87449600-87480800	Weak transcription	Right Ventricle	heart
16	chr8:87451600-87477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
20	chr8:87453400-87475800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
22	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
23	chr8:87457400-87480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:87457800-87481000	Weak transcription	Esophagus	oesophagus
26	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:87458000-87480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:87458800-87486200	Strong transcription	Liver	Liver
30	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
31	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:87459400-87479200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:87459800-87475000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:87460200-87477000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:87460600-87478400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:87460600-87486000	Strong transcription	Dnd41	blood
45	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:87461400-87475000	Weak transcription	Fetal Stomach	stomach
47	chr8:87461400-87475400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:87461400-87481000	Weak transcription	Brain Germinal Matrix	brain
49	chr8:87461600-87476000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:87462200-87480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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