Variant report

Variant	rs11986423
Chromosome Location	chr8:87525268-87525269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
2	chr8:87524372..87527585-chr8:99056393..99058902,3	MCF-7	breast:
3	chr8:87522736..87525471-chr8:87526558..87529264,4	K562	blood:
4	chr14:35870258..35872517-chr8:87524320..87526533,2	MCF-7	breast:
5	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
6	chr8:87493302..87495849-chr8:87524231..87525905,2	MCF-7	breast:
7	chr8:87524238..87526027-chr8:87526421..87528382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000250569	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086188	1.00[ASN][1000 genomes]
rs10089169	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089253	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10089317	0.82[EUR][1000 genomes]
rs10090898	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10090963	1.00[ASN][1000 genomes]
rs10093867	0.81[EUR][1000 genomes]
rs10094332	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095589	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs10097546	0.81[EUR][1000 genomes]
rs10097866	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098365	1.00[ASN][1000 genomes]
rs10100182	0.90[ASN][1000 genomes]
rs10100247	1.00[ASN][1000 genomes]
rs10100254	0.88[ASN][1000 genomes]
rs10100368	0.90[ASN][1000 genomes]
rs10100698	0.82[EUR][1000 genomes]
rs10106390	1.00[ASN][1000 genomes]
rs10107117	1.00[ASN][1000 genomes]
rs10107571	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs10108586	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109677	0.81[EUR][1000 genomes]
rs10110096	0.90[ASN][1000 genomes]
rs10110323	0.98[EUR][1000 genomes]
rs10481195	0.84[ASN][1000 genomes]
rs10504823	0.82[EUR][1000 genomes]
rs10956820	0.85[EUR][1000 genomes]
rs10956821	0.83[EUR][1000 genomes]
rs10956822	0.85[EUR][1000 genomes]
rs10956871	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs11774253	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774499	0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs11776698	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781993	0.81[EUR][1000 genomes]
rs11783382	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11984519	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11994508	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997927	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11998558	0.84[ASN][1000 genomes]
rs12155979	0.88[EUR][1000 genomes]
rs12155981	0.96[GIH][hapmap];0.88[EUR][1000 genomes]
rs12156004	0.81[EUR][1000 genomes]
rs12216783	0.82[EUR][1000 genomes]
rs12335013	0.84[EUR][1000 genomes]
rs16915375	1.00[ASN][1000 genomes]
rs16915389	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs17681534	0.82[EUR][1000 genomes]
rs17681826	0.84[EUR][1000 genomes]
rs28384362	0.87[EUR][1000 genomes]
rs28397606	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28416254	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28433311	0.81[EUR][1000 genomes]
rs28438974	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504479	0.81[EUR][1000 genomes]
rs28514445	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540009	1.00[ASN][1000 genomes]
rs28613262	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680173	0.88[EUR][1000 genomes]
rs28687116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715255	0.84[EUR][1000 genomes]
rs2953512	0.89[GIH][hapmap]
rs2953518	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs2976194	0.82[EUR][1000 genomes]
rs3087641	0.96[GIH][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4440616	0.96[GIH][hapmap];0.91[EUR][1000 genomes]
rs55671538	0.81[EUR][1000 genomes]
rs55871514	0.85[EUR][1000 genomes]
rs57638937	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58837061	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471295	0.81[EUR][1000 genomes]
rs6471317	0.85[EUR][1000 genomes]
rs6651177	1.00[ASN][1000 genomes]
rs6651268	1.00[ASN][1000 genomes]
rs67332431	0.90[ASN][1000 genomes]
rs6980476	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs6992624	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993497	0.85[EUR][1000 genomes]
rs6993612	0.84[EUR][1000 genomes]
rs7015772	0.84[EUR][1000 genomes]
rs7018083	0.85[ASN][1000 genomes]
rs72690416	0.90[ASN][1000 genomes]
rs72690443	1.00[ASN][1000 genomes]
rs72690445	1.00[ASN][1000 genomes]
rs72690447	1.00[ASN][1000 genomes]
rs72690455	1.00[ASN][1000 genomes]
rs72690457	1.00[ASN][1000 genomes]
rs72690474	1.00[ASN][1000 genomes]
rs73688817	0.82[EUR][1000 genomes]
rs73688823	0.81[EUR][1000 genomes]
rs73688824	0.81[EUR][1000 genomes]
rs73688827	0.84[EUR][1000 genomes]
rs73688856	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73688857	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73688858	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73688859	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73688862	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818436	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823951	0.97[ASN][1000 genomes]
rs7824873	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833201	0.97[ASN][1000 genomes]
rs7837581	0.81[EUR][1000 genomes]
rs7839096	0.80[EUR][1000 genomes]
rs7843272	0.82[EUR][1000 genomes]
rs7843399	0.87[EUR][1000 genomes]
rs7844014	1.00[ASN][1000 genomes]
rs9297913	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650128	1.00[ASN][1000 genomes]
rs9650129	1.00[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	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
2	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
3	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11986423	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL
rs11986423	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87521200-87526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:87521200-87526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87521400-87526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:87521400-87526200	Weak transcription	Fetal Lung	lung
5	chr8:87521400-87526200	Weak transcription	Left Ventricle	heart
6	chr8:87521400-87526200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:87521400-87526200	Weak transcription	Stomach Mucosa	stomach
8	chr8:87521400-87526600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:87521600-87525600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:87521600-87525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:87521600-87525800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:87521600-87525800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:87521600-87525800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:87521600-87526000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:87521600-87526000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:87521600-87526000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:87521600-87526000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:87521600-87526000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:87521600-87526000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:87521600-87526000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:87521600-87526000	Weak transcription	Brain Anterior Caudate	brain
23	chr8:87521600-87526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:87521600-87526000	Weak transcription	Pancreas	Pancrea
25	chr8:87521600-87526000	Weak transcription	Small Intestine	intestine
26	chr8:87521600-87526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:87521600-87526200	Weak transcription	Primary B cells from cord blood	blood
28	chr8:87521600-87526200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:87521600-87526200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:87521600-87526200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:87521600-87526200	Weak transcription	Liver	Liver
32	chr8:87521600-87526200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:87521600-87526200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:87521600-87526200	Weak transcription	Fetal Brain Female	brain
35	chr8:87521600-87526200	Weak transcription	Fetal Intestine Large	intestine
36	chr8:87521600-87526200	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:87521600-87526200	Weak transcription	Placenta	Placenta
38	chr8:87521600-87526200	Weak transcription	Fetal Stomach	stomach
39	chr8:87521600-87526200	Weak transcription	Psoas Muscle	Psoas
40	chr8:87521600-87526200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:87521600-87526200	Weak transcription	Right Atrium	heart
42	chr8:87521600-87526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:87521600-87526200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:87521600-87526200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:87521600-87526200	Weak transcription	Osteobl	bone
46	chr8:87521600-87526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:87521600-87526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:87521600-87526600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:87521600-87526600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:87521800-87525600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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