Variant report

Variant	rs4490816
Chromosome Location	chr8:87384938-87384939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87384772..87387362-chr8:87392342..87394436,2	K562	blood:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10085920	0.95[CEU][hapmap]
rs10086340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10087788	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs10093238	0.81[JPT][hapmap]
rs10093729	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095129	0.81[JPT][hapmap]
rs10095498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096443	0.81[JPT][hapmap]
rs10097450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098356	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102749	0.97[ASN][1000 genomes]
rs10112123	0.95[CEU][hapmap]
rs1016102	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap]
rs10435563	0.95[CEU][hapmap]
rs10481197	0.91[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs10956830	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956873	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs11775728	0.81[JPT][hapmap]
rs11992656	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs12541793	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12543544	0.80[EUR][1000 genomes]
rs12544463	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12546802	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs12548328	0.88[CEU][hapmap];0.81[YRI][hapmap]
rs12549332	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12550142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs12678720	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12678772	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13042	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13249753	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs13251006	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13252046	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13253261	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13253296	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253515	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13254675	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13256500	0.91[CEU][hapmap]
rs13256765	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13258126	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13261901	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13261956	0.81[EUR][1000 genomes]
rs13262672	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13263353	0.86[CEU][hapmap]
rs13264364	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13267782	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[ASN][1000 genomes]
rs13269259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13272148	0.80[ASN][1000 genomes]
rs13273338	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13279589	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13279850	0.82[EUR][1000 genomes]
rs13280468	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13281414	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1436628	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs28378899	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28561640	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2917557	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs2953509	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2953510	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2953511	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2953516	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2953517	0.83[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2976177	0.81[ASN][1000 genomes]
rs2976178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2976179	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2976181	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2976201	0.83[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3213912	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs34227066	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34794500	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779806	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs3779808	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs4129535	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs41469550	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4282548	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs4310184	0.95[CEU][hapmap]
rs4379426	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379427	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4464946	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4587306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623392	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4961188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4961194	0.81[JPT][hapmap]
rs4961195	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.80[JPT][hapmap]
rs4961197	0.91[CEU][hapmap]
rs61106663	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6415565	0.81[JPT][hapmap]
rs6471296	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471314	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471316	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471354	0.81[JPT][hapmap]
rs6471360	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6651267	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs67123356	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6985066	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs6985427	0.95[CEU][hapmap]
rs6992287	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992944	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996052	0.81[JPT][hapmap]
rs7003059	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7006017	0.81[JPT][hapmap]
rs7006629	0.81[JPT][hapmap]
rs7007855	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015490	0.81[JPT][hapmap]
rs7017706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7017716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017719	0.81[JPT][hapmap]
rs72606633	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7460286	0.81[JPT][hapmap]
rs7460342	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7460439	0.81[JPT][hapmap]
rs7460650	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7461413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes]
rs7461668	0.81[EUR][1000 genomes]
rs7465511	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7816275	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7820697	0.81[JPT][hapmap]
rs7830480	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833049	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7837569	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7839601	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs7841690	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842042	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7846090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8635	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9283958	0.95[CEU][hapmap];0.80[YRI][hapmap]
rs9297861	0.95[CEU][hapmap]
rs9297922	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap]
rs9297923	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs9942792	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs9942823	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]

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	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
4	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4490816	RMDN1	cis	Whole Blood	GTEx
rs4490816	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs4490816	FAM82B	cis	Brain Pons	GTEx
rs4490816	FAM82B	cis	lesional skin	skin_eQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

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	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
5	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
9	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
10	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:87373800-87385000	Weak transcription	HepG2	liver
13	chr8:87374800-87387000	Weak transcription	Ovary	ovary
14	chr8:87375000-87387000	Weak transcription	NHEK	skin
15	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:87377200-87385800	Weak transcription	NH-A	brain
20	chr8:87378200-87386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:87378400-87386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:87378600-87386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:87378600-87387000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:87378600-87387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:87378600-87402200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:87378600-87402200	Weak transcription	Spleen	Spleen
27	chr8:87378800-87403800	Weak transcription	Psoas Muscle	Psoas
28	chr8:87379000-87387800	Weak transcription	Left Ventricle	heart
29	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:87379800-87387600	Weak transcription	Brain Angular Gyrus	brain
31	chr8:87379800-87392800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:87379800-87403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:87380200-87387800	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:87380200-87387800	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:87380400-87385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:87380400-87386000	Weak transcription	HMEC	breast
37	chr8:87380400-87401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:87380600-87387400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:87380800-87403600	Weak transcription	Stomach Mucosa	stomach
40	chr8:87381000-87386600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:87381000-87398800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:87381000-87403600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:87381000-87404000	Weak transcription	Small Intestine	intestine
44	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:87381200-87397600	Weak transcription	Fetal Heart	heart
46	chr8:87381200-87425600	Weak transcription	K562	blood
47	chr8:87381400-87385600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:87381400-87386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:87381600-87386600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:87381600-87389800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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