Variant report

Variant	rs56186469
Chromosome Location	chr8:68196489-68196490
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10105795	1.00[ASN][1000 genomes]
rs10957384	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11774715	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11779287	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986169	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11995348	0.81[ASN][1000 genomes]
rs12674570	0.88[ASN][1000 genomes]
rs12674848	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678865	0.82[EUR][1000 genomes]
rs12679614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681292	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12682412	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253205	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13255070	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264289	0.95[ASN][1000 genomes]
rs13267015	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13270606	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13275593	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13280556	0.83[AMR][1000 genomes]
rs1544986	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933214	0.80[AFR][1000 genomes]
rs17425781	0.85[ASN][1000 genomes]
rs1821026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116130	0.87[ASN][1000 genomes]
rs28640047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132973	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34345865	0.88[ASN][1000 genomes]
rs34711984	0.88[ASN][1000 genomes]
rs35480743	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35754047	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35904049	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57179217	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59870074	0.80[AFR][1000 genomes]
rs60196076	0.99[ASN][1000 genomes]
rs6472297	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68086555	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987724	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992604	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6993324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002191	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013561	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718348	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72654960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464980	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812887	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813810	0.96[ASN][1000 genomes]
rs7817641	0.81[EUR][1000 genomes]
rs7818520	1.00[ASN][1000 genomes]
rs7820370	0.87[ASN][1000 genomes]
rs7823436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830183	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841468	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7841756	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:68163200-68198400	Weak transcription	HepG2	liver
6	chr8:68165000-68202400	Weak transcription	Colonic Mucosa	Colon
7	chr8:68166400-68213600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:68172000-68210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
10	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
11	chr8:68174200-68208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:68174200-68211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:68174400-68199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:68174600-68199200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
16	chr8:68175800-68198200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:68175800-68199200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:68176000-68197000	Weak transcription	Lung	lung
19	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:68176600-68197600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:68177200-68199600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:68177400-68197000	Weak transcription	Aorta	Aorta
23	chr8:68177400-68204000	Weak transcription	NHLF	lung
24	chr8:68177800-68198600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:68178000-68199200	Weak transcription	Brain Substantia Nigra	brain
26	chr8:68178200-68197600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:68178400-68197400	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:68178400-68199200	Weak transcription	Fetal Brain Female	brain
29	chr8:68178800-68197000	Weak transcription	Ovary	ovary
30	chr8:68178800-68197000	Weak transcription	Thymus	Thymus
31	chr8:68178800-68197600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:68178800-68198600	Weak transcription	Psoas Muscle	Psoas
33	chr8:68178800-68199000	Weak transcription	Brain Anterior Caudate	brain
34	chr8:68178800-68199200	Weak transcription	A549	lung
35	chr8:68178800-68207000	Weak transcription	Hela-S3	cervix
36	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:68181000-68196600	Weak transcription	GM12878-XiMat	blood
38	chr8:68181200-68197000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:68181200-68199000	Weak transcription	HSMMtube	muscle
40	chr8:68184000-68199200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:68184400-68197800	Weak transcription	Osteobl	bone
42	chr8:68184400-68199200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:68185200-68201400	Weak transcription	Fetal Intestine Small	intestine
44	chr8:68186400-68213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:68187200-68214000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:68187800-68214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:68189200-68197000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:68189200-68197200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:68189600-68196800	Weak transcription	Left Ventricle	heart
50	chr8:68189600-68197000	Weak transcription	NH-A	brain

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