Variant report

Variant	rs7843399
Chromosome Location	chr8:87424868-87424869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87424786-87424909	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87423456..87426369-chr8:87480182..87483127,2	K562	blood:

Variant related genes	Relation type
WWP1	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10086188	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10089169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10089253	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10089317	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10090898	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10092168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10093867	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10094332	0.83[EUR][1000 genomes]
rs10095589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10097546	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097866	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10098365	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10100368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10100698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10106390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106855	0.87[ASN][1000 genomes]
rs10107117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10108586	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10109032	0.85[ASN][1000 genomes]
rs10109677	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10110323	0.88[EUR][1000 genomes]
rs10113158	0.84[ASN][1000 genomes]
rs10504823	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956821	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956871	1.00[CHB][hapmap]
rs11774253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11774499	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11776698	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781993	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11984519	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11986423	0.87[EUR][1000 genomes]
rs11994508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11997927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12155979	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12155981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12156004	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12216783	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12335013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12677915	0.86[CEU][hapmap]
rs13265266	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1595207	0.91[CEU][hapmap]
rs16915375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16915389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17681534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17681826	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2118070	0.84[CEU][hapmap]
rs28384362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28397606	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28416254	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28433311	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28438974	0.88[EUR][1000 genomes]
rs28445847	0.84[ASN][1000 genomes]
rs28504479	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28514445	0.84[EUR][1000 genomes]
rs28613262	0.86[EUR][1000 genomes]
rs28680173	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28687116	0.87[EUR][1000 genomes]
rs28715255	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28783474	0.84[ASN][1000 genomes]
rs2917553	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2917559	0.91[CEU][hapmap]
rs2953507	0.84[ASN][1000 genomes]
rs2953508	0.84[ASN][1000 genomes]
rs2953512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953519	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953520	0.84[EUR][1000 genomes]
rs2953521	0.88[EUR][1000 genomes]
rs2953523	0.92[CEU][hapmap]
rs2953524	0.91[CEU][hapmap]
rs2954348	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2976170	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976173	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976174	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976175	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976194	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2976195	0.81[ASN][1000 genomes]
rs2976196	0.81[ASN][1000 genomes]
rs2976199	0.81[ASN][1000 genomes]
rs2976200	0.84[CEU][hapmap]
rs2976202	0.84[ASN][1000 genomes]
rs3087641	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4370511	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4440616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4633041	0.92[CEU][hapmap]
rs55671538	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55871514	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57638937	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58837061	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6471266	0.91[CEU][hapmap]
rs6471284	0.84[ASN][1000 genomes]
rs6471295	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471317	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980476	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6992624	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6993497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018083	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs73262925	0.84[ASN][1000 genomes]
rs73262927	0.84[ASN][1000 genomes]
rs73688817	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688823	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688824	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688827	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73688856	0.87[EUR][1000 genomes]
rs73688857	0.87[EUR][1000 genomes]
rs73688858	0.88[EUR][1000 genomes]
rs73688859	0.88[EUR][1000 genomes]
rs73688862	0.88[EUR][1000 genomes]
rs7815489	0.84[ASN][1000 genomes]
rs7818436	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7824873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7837581	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839096	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843272	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7846468	0.84[ASN][1000 genomes]
rs9297913	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9650129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9656823	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9656824	0.90[EUR][1000 genomes];0.87[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	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	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7843399	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs7843399	FAM82B///LOC642197	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:87381200-87425600	Weak transcription	K562	blood
4	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
6	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
7	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
8	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
9	chr8:87398800-87425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
11	chr8:87402400-87425400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:87403000-87429000	Weak transcription	Gastric	stomach
13	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
14	chr8:87404200-87426600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:87404400-87425800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:87404400-87428400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:87404400-87429000	Weak transcription	Aorta	Aorta
19	chr8:87404400-87429000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:87404600-87425200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:87404600-87425600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:87404600-87425600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:87404600-87426000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:87404600-87428000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:87405200-87426600	Weak transcription	Brain Anterior Caudate	brain
26	chr8:87405400-87426000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:87405400-87443600	Weak transcription	NHLF	lung
28	chr8:87405800-87429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:87406000-87425800	Strong transcription	Liver	Liver
30	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:87406200-87425800	Weak transcription	HSMMtube	muscle
32	chr8:87406400-87428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:87406600-87425600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:87406800-87425600	Weak transcription	NHEK	skin
35	chr8:87406800-87437400	Weak transcription	HSMM	muscle
36	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
38	chr8:87411200-87429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:87411400-87429600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:87412800-87425000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:87412800-87427600	Strong transcription	Dnd41	blood
42	chr8:87414400-87431400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:87414600-87428400	Weak transcription	Psoas Muscle	Psoas
44	chr8:87414800-87425800	Weak transcription	NH-A	brain
45	chr8:87414800-87430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:87415200-87426600	Weak transcription	HUVEC	blood vessel
47	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
48	chr8:87415800-87425400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:87415800-87425600	Weak transcription	Hela-S3	cervix
50	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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