Variant report

Variant	rs55671538
Chromosome Location	chr8:87364040-87364041
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	chr8:87358214..87359951-chr8:87363594..87365378,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10089169	0.83[EUR][1000 genomes]
rs10089253	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10089317	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10090898	0.83[EUR][1000 genomes]
rs10093867	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10100698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106855	0.93[ASN][1000 genomes]
rs10108586	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109032	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10109677	0.91[EUR][1000 genomes]
rs10110323	0.83[EUR][1000 genomes]
rs10113158	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10481195	0.81[ASN][1000 genomes]
rs10504823	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956820	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956821	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956822	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774253	0.83[EUR][1000 genomes]
rs11776698	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781993	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783382	0.83[EUR][1000 genomes]
rs11984519	0.83[EUR][1000 genomes]
rs11986423	0.81[EUR][1000 genomes]
rs11994508	0.88[EUR][1000 genomes]
rs11997927	0.86[EUR][1000 genomes]
rs11998558	0.81[ASN][1000 genomes]
rs12155979	0.93[EUR][1000 genomes]
rs12155981	0.93[EUR][1000 genomes]
rs12156004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335013	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265266	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595207	0.85[EUR][1000 genomes]
rs17681534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681826	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2118070	0.85[EUR][1000 genomes]
rs28384362	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28397606	0.83[EUR][1000 genomes]
rs28416254	0.83[EUR][1000 genomes]
rs28433311	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28438974	0.83[EUR][1000 genomes]
rs28445847	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28504479	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613262	0.81[EUR][1000 genomes]
rs28680173	0.86[EUR][1000 genomes]
rs28687116	0.81[EUR][1000 genomes]
rs28715255	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28783474	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2917553	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2917559	0.85[EUR][1000 genomes]
rs2917561	0.85[EUR][1000 genomes]
rs2953507	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953508	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953512	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953514	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953515	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953518	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953519	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953520	0.88[EUR][1000 genomes]
rs2953521	0.92[EUR][1000 genomes]
rs2953523	0.85[EUR][1000 genomes]
rs2953524	0.85[EUR][1000 genomes]
rs2953526	0.85[EUR][1000 genomes]
rs2976170	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976173	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976174	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976175	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976176	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976180	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976192	0.84[ASN][1000 genomes]
rs2976194	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2976195	0.87[ASN][1000 genomes]
rs2976196	0.87[ASN][1000 genomes]
rs2976199	0.87[ASN][1000 genomes]
rs2976202	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3087641	0.83[EUR][1000 genomes]
rs4370511	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4440616	0.90[EUR][1000 genomes]
rs4628240	0.85[EUR][1000 genomes]
rs4633041	0.85[EUR][1000 genomes]
rs55871514	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57638937	0.83[EUR][1000 genomes]
rs58837061	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471266	0.85[EUR][1000 genomes]
rs6471284	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471295	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471317	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993497	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993612	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015772	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262925	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73262927	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688823	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688824	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688827	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.82[EUR][1000 genomes]
rs73688857	0.82[EUR][1000 genomes]
rs73688858	0.83[EUR][1000 genomes]
rs73688859	0.83[EUR][1000 genomes]
rs73688862	0.83[EUR][1000 genomes]
rs7815489	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818436	0.83[EUR][1000 genomes]
rs7837581	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837618	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843399	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846468	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297913	0.83[EUR][1000 genomes]
rs9656823	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656824	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	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
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55671538	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL
rs55671538	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87366400	Weak transcription	Fetal Lung	lung
4	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:87357200-87365000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:87357200-87366000	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:87357200-87368800	Weak transcription	Primary B cells from cord blood	blood
8	chr8:87357200-87369600	Weak transcription	HSMM	muscle
9	chr8:87357400-87364400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:87357400-87364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:87357400-87364600	Weak transcription	Lung	lung
12	chr8:87357400-87367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:87357400-87368000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:87357600-87364200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:87357600-87364800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:87357600-87364800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:87357600-87364800	Weak transcription	K562	blood
20	chr8:87357600-87366000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:87357600-87368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:87357600-87368800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
24	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:87357800-87367400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:87357800-87368600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
29	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
31	chr8:87358000-87366600	Weak transcription	Colonic Mucosa	Colon
32	chr8:87358000-87369000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:87358400-87364200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:87358400-87364800	Weak transcription	A549	lung
35	chr8:87358400-87367400	Weak transcription	Hela-S3	cervix
36	chr8:87358600-87365000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:87358800-87366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:87359000-87383600	Weak transcription	Dnd41	blood
39	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:87360600-87369800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:87361200-87364200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr8:87361600-87364200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:87361600-87364200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:87361600-87364400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:87361600-87364800	Weak transcription	Fetal Stomach	stomach
46	chr8:87361800-87364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:87361800-87369600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:87362000-87364200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:87362200-87364200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:87362200-87368400	Enhancers	HepG2	liver

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