Variant report

Variant	rs6987427
Chromosome Location	chr8:54650168-54650169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1031979	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1031980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs10435587	1.00[CEU][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994467	0.88[ASN][1000 genomes]
rs11996300	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12056486	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs12234972	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276766	0.85[ASN][1000 genomes]
rs1552148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919508	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs16919522	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919534	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16919563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16919571	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919573	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1872063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs1905061	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2128150	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2376011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757954	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs41321146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs4737192	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737518	0.83[EUR][1000 genomes]
rs4737554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737753	1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs4737761	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs4737764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs4737765	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4737974	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs4738025	1.00[CEU][hapmap]
rs4738027	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4738470	0.85[ASN][1000 genomes]
rs4738646	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4738884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738916	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55682919	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55876329	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55964335	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56818292	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56956173	0.83[EUR][1000 genomes]
rs56973376	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57550901	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58473841	0.85[ASN][1000 genomes]
rs58558817	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58970885	0.83[EUR][1000 genomes]
rs61070518	0.88[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6984257	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986372	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988009	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988808	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6988812	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994851	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6997003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997127	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999454	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005696	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7006934	0.85[CEU][hapmap];0.81[CHB][hapmap];0.93[EUR][1000 genomes]
rs7009705	0.83[EUR][1000 genomes]
rs7018162	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73587624	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73587627	0.85[ASN][1000 genomes]
rs73680321	0.83[EUR][1000 genomes]
rs73682549	1.00[EUR][1000 genomes]
rs73682551	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682552	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73682555	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73682568	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73682570	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7387704	0.80[ASN][1000 genomes]
rs7843701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs900163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958268	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs9643480	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643819	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643820	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]

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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
2	chr8:54635000-54660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:54635800-54650800	Weak transcription	Fetal Brain Male	brain
4	chr8:54640400-54651400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr8:54641000-54654400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:54642000-54652600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
8	chr8:54643600-54652600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:54644200-54651000	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr8:54645200-54651600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr8:54645200-54652600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:54645200-54654800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:54645400-54652600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:54645600-54651000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr8:54645600-54654600	Weak transcription	HSMM	muscle
16	chr8:54645600-54654800	Weak transcription	Osteobl	bone
17	chr8:54645600-54655000	Weak transcription	NH-A	brain
18	chr8:54645600-54671400	Weak transcription	NHLF	lung
19	chr8:54645800-54650200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:54645800-54652600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
22	chr8:54646800-54654400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:54647000-54651200	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr8:54647000-54654800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:54647400-54650200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:54647400-54651400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr8:54647600-54651400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr8:54647600-54651400	ZNF genes & repeats	Thymus	Thymus
30	chr8:54647600-54652400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr8:54647600-54654400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:54647600-54654800	Weak transcription	Fetal Kidney	kidney
33	chr8:54647600-54661600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:54647600-54666600	Weak transcription	A549	lung
35	chr8:54647800-54654200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:54647800-54654800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:54647800-54654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:54648000-54650200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr8:54648000-54652600	ZNF genes & repeats	GM12878-XiMat	blood
40	chr8:54648000-54654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:54648200-54650200	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr8:54648200-54651400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr8:54648200-54651400	ZNF genes & repeats	Fetal Lung	lung
44	chr8:54648200-54651600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:54648200-54651600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr8:54648400-54650200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:54648400-54650200	ZNF genes & repeats	Aorta	Aorta
48	chr8:54648400-54651400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr8:54648400-54651600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:54648400-54652600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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