Variant report

Variant	rs28561640
Chromosome Location	chr8:87425638-87425639
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	EP300	chr8:87425465-87426013	A549	lung:	n/a	n/a
2	CEBPB	chr8:87425583-87425951	A549	lung:	n/a	n/a
3	SP1	chr8:87425473-87426002	A549	lung:	n/a	n/a
4	NR3C1	chr8:87425615-87425827	A549	lung:	n/a	n/a
5	CREB1	chr8:87425533-87425928	A549	lung:	n/a	n/a
6	NR3C1	chr8:87425473-87425866	A549	lung:	n/a	n/a
7	CREB1	chr8:87425530-87425983	H1-hESC	embryonic stem cell:	n/a	n/a
8	NR3C1	chr8:87425506-87425860	A549	lung:	n/a	n/a
9	NR3C1	chr8:87425431-87425929	A549	lung:	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: 128 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10086340	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087788	0.82[AFR][1000 genomes]
rs10093729	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10095498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097450	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098356	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102229	0.82[AFR][1000 genomes]
rs10102749	0.97[ASN][1000 genomes]
rs10956830	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956873	0.82[AFR][1000 genomes]
rs1135451	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11992656	0.82[AFR][1000 genomes]
rs12541793	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12543544	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12544463	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12546802	0.80[EUR][1000 genomes]
rs12549332	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12550142	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678720	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12678772	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679811	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13042	0.80[ASN][1000 genomes]
rs13249177	0.84[AFR][1000 genomes]
rs13249753	0.84[AFR][1000 genomes]
rs13251006	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13252046	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253261	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253296	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13253515	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13254675	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13256765	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13257414	0.80[EUR][1000 genomes]
rs13258126	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13260345	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13261901	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13261956	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13262672	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13264021	0.84[AFR][1000 genomes]
rs13264364	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13267782	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13269259	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13270090	0.82[AFR][1000 genomes]
rs13272148	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13273338	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279589	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279850	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13280468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13281414	0.80[EUR][1000 genomes]
rs13282351	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28378899	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28645771	0.82[AMR][1000 genomes]
rs2953509	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2953510	0.91[EUR][1000 genomes]
rs2953511	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2953516	0.83[EUR][1000 genomes]
rs2976178	0.83[EUR][1000 genomes]
rs2976179	0.90[EUR][1000 genomes]
rs2976181	0.82[EUR][1000 genomes]
rs3213912	0.82[AFR][1000 genomes]
rs34227066	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34367154	0.86[AFR][1000 genomes]
rs34596274	0.82[AFR][1000 genomes]
rs34794500	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35418161	0.84[AFR][1000 genomes]
rs35471529	0.84[AFR][1000 genomes]
rs35871312	0.82[AFR][1000 genomes]
rs36081104	0.84[AFR][1000 genomes]
rs3779806	0.82[AFR][1000 genomes]
rs3779808	0.82[AFR][1000 genomes]
rs4129535	0.87[AFR][1000 genomes]
rs41469550	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379426	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4379427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4464946	0.83[EUR][1000 genomes]
rs4490816	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587306	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4623392	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961188	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961193	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4961197	0.84[AFR][1000 genomes]
rs56752411	0.82[AFR][1000 genomes]
rs60982560	0.84[AFR][1000 genomes]
rs61106663	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471296	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471309	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471314	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471316	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471360	0.84[AFR][1000 genomes]
rs6651269	0.82[AFR][1000 genomes]
rs66808088	0.87[AFR][1000 genomes]
rs67123356	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68008113	0.87[AFR][1000 genomes]
rs6985066	0.87[AFR][1000 genomes]
rs6992287	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6992944	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998303	0.84[AFR][1000 genomes]
rs7007055	0.87[AFR][1000 genomes]
rs7007855	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017706	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017716	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71502657	0.81[EUR][1000 genomes]
rs72606633	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7459877	0.84[AFR][1000 genomes]
rs7460342	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7460650	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7461366	0.84[AFR][1000 genomes]
rs7461413	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7461668	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7465511	0.87[AFR][1000 genomes]
rs7816275	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7820234	0.90[EUR][1000 genomes]
rs7830480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832493	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7833049	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7837569	0.81[AFR][1000 genomes]
rs7841690	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842042	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846090	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8635	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297921	0.82[AFR][1000 genomes]
rs9297922	0.82[AFR][1000 genomes]
rs9297923	0.82[AFR][1000 genomes]
rs9942792	0.84[AFR][1000 genomes]
rs9942793	0.84[AFR][1000 genomes]
rs9942823	0.81[AFR][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
rs28561640	RMDN1	cis	Whole Blood	GTEx
rs28561640	FAM82B	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	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
5	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
6	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
7	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
8	chr8:87398800-87425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
10	chr8:87403000-87429000	Weak transcription	Gastric	stomach
11	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
12	chr8:87404200-87426600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:87404400-87425800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:87404400-87428400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:87404400-87429000	Weak transcription	Aorta	Aorta
17	chr8:87404400-87429000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:87404600-87426000	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:87404600-87428000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:87405200-87426600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:87405400-87426000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:87405400-87443600	Weak transcription	NHLF	lung
23	chr8:87405800-87429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:87406000-87425800	Strong transcription	Liver	Liver
25	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:87406200-87425800	Weak transcription	HSMMtube	muscle
27	chr8:87406400-87428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:87406800-87437400	Weak transcription	HSMM	muscle
29	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
31	chr8:87411200-87429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:87411400-87429600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:87412800-87427600	Strong transcription	Dnd41	blood
34	chr8:87414400-87431400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:87414600-87428400	Weak transcription	Psoas Muscle	Psoas
36	chr8:87414800-87425800	Weak transcription	NH-A	brain
37	chr8:87414800-87430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:87415200-87426600	Weak transcription	HUVEC	blood vessel
39	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
40	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:87416800-87426200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:87417200-87425800	Weak transcription	Fetal Heart	heart
43	chr8:87417400-87428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:87418200-87425800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:87419200-87426600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:87419400-87430600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:87420800-87425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:87421200-87426600	Strong transcription	Placenta	Placenta

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