Variant report

Variant	rs72654960
Chromosome Location	chr8:68206381-68206382
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10105795	1.00[ASN][1000 genomes]
rs10504399	0.81[AFR][1000 genomes]
rs10957384	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11774715	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11779287	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986169	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678865	0.83[EUR][1000 genomes]
rs12679614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681292	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12682412	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253205	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13255070	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264289	0.95[ASN][1000 genomes]
rs13267015	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13270606	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13275593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13280556	0.83[AMR][1000 genomes]
rs1544986	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17425781	0.85[ASN][1000 genomes]
rs1821026	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116130	0.87[ASN][1000 genomes]
rs28640047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132973	0.88[AMR][1000 genomes];0.88[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];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35754047	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35904049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56186469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57179217	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58715460	0.85[AFR][1000 genomes]
rs60196076	0.99[ASN][1000 genomes]
rs6472297	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68086555	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987724	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992604	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6993324	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002191	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013561	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718348	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693152	0.80[AFR][1000 genomes]
rs7464980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812887	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813810	0.96[ASN][1000 genomes]
rs7817641	0.82[EUR][1000 genomes]
rs7818520	1.00[ASN][1000 genomes]
rs7820370	0.87[ASN][1000 genomes]
rs7822637	0.81[EUR][1000 genomes]
rs7823436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830183	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841468	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7841756	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844125	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846677	0.83[AFR][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	chr8:68166400-68213600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:68172000-68210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
8	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
9	chr8:68174200-68208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:68174200-68211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
12	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:68178800-68207000	Weak transcription	Hela-S3	cervix
14	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:68186400-68213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:68187200-68214000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:68187800-68214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:68193000-68211800	Weak transcription	Pancreas	Pancrea
19	chr8:68193000-68218400	Weak transcription	Gastric	stomach
20	chr8:68194400-68213400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:68195200-68213000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:68195200-68213200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:68195400-68213200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:68195400-68213600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:68195400-68214400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:68195600-68214000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:68195600-68214200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:68195800-68212800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:68195800-68213800	Strong transcription	Dnd41	blood
30	chr8:68196000-68214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:68196000-68214200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:68196000-68214400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:68196000-68214400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:68196200-68212800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:68196400-68206600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:68196400-68212200	Strong transcription	Fetal Intestine Large	intestine
37	chr8:68196400-68213200	Strong transcription	Liver	Liver
38	chr8:68196400-68214400	Strong transcription	Primary T cells from cord blood	blood
39	chr8:68196400-68214400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:68196800-68212200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr8:68196800-68214400	Strong transcription	Fetal Thymus	thymus
42	chr8:68196800-68214400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:68197000-68207200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:68197000-68207200	Strong transcription	Fetal Muscle Leg	muscle
45	chr8:68197000-68213600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:68197000-68213800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:68197000-68214200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:68197000-68215200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:68197600-68214400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:68197800-68210600	Weak transcription	Spleen	Spleen

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