Variant report

Variant	rs60044335
Chromosome Location	chr8:9527675-9527676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10089150	1.00[EUR][1000 genomes]
rs10090838	0.90[AMR][1000 genomes]
rs10092731	0.81[AMR][1000 genomes]
rs10093621	0.89[AMR][1000 genomes]
rs10094356	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101221	1.00[EUR][1000 genomes]
rs10101642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102866	1.00[EUR][1000 genomes]
rs10104208	1.00[EUR][1000 genomes]
rs10109453	1.00[EUR][1000 genomes]
rs10111136	0.89[AMR][1000 genomes]
rs11990459	1.00[AMR][1000 genomes]
rs11993880	0.90[AMR][1000 genomes]
rs13260490	1.00[EUR][1000 genomes]
rs1458941	1.00[EUR][1000 genomes]
rs17155390	1.00[EUR][1000 genomes]
rs2409572	1.00[EUR][1000 genomes]
rs28398294	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28398977	0.89[AMR][1000 genomes]
rs28415429	1.00[AMR][1000 genomes]
rs28452227	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28479025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28511573	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28523514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532946	0.89[AMR][1000 genomes]
rs28635251	1.00[EUR][1000 genomes]
rs28670159	0.89[AMR][1000 genomes]
rs28718248	1.00[AMR][1000 genomes]
rs2898215	1.00[EUR][1000 genomes]
rs3209607	1.00[EUR][1000 genomes]
rs34203681	1.00[AMR][1000 genomes]
rs34346955	1.00[AMR][1000 genomes]
rs34585234	0.89[AMR][1000 genomes]
rs34625531	1.00[EUR][1000 genomes]
rs35557473	0.89[AMR][1000 genomes]
rs4129362	1.00[AMR][1000 genomes]
rs4342598	1.00[EUR][1000 genomes]
rs4354311	1.00[AMR][1000 genomes]
rs4599815	1.00[EUR][1000 genomes]
rs4604434	0.89[AMR][1000 genomes]
rs55670933	1.00[EUR][1000 genomes]
rs55729276	1.00[EUR][1000 genomes]
rs55870346	1.00[EUR][1000 genomes]
rs55893352	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56188005	1.00[EUR][1000 genomes]
rs56302934	1.00[EUR][1000 genomes]
rs56326922	1.00[EUR][1000 genomes]
rs56411177	1.00[EUR][1000 genomes]
rs56784931	1.00[EUR][1000 genomes]
rs56951452	1.00[EUR][1000 genomes]
rs57026077	1.00[EUR][1000 genomes]
rs57027206	1.00[EUR][1000 genomes]
rs57673085	1.00[EUR][1000 genomes]
rs58165072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58190269	1.00[EUR][1000 genomes]
rs58361831	1.00[EUR][1000 genomes]
rs58766098	1.00[EUR][1000 genomes]
rs58868633	1.00[EUR][1000 genomes]
rs58946539	1.00[AMR][1000 genomes]
rs59400423	1.00[EUR][1000 genomes]
rs59462993	1.00[EUR][1000 genomes]
rs59517107	1.00[EUR][1000 genomes]
rs59815980	1.00[EUR][1000 genomes]
rs60035611	1.00[EUR][1000 genomes]
rs60206878	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60338966	1.00[EUR][1000 genomes]
rs60862678	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61515500	1.00[EUR][1000 genomes]
rs7002894	1.00[EUR][1000 genomes]
rs73523206	1.00[EUR][1000 genomes]
rs73523216	1.00[EUR][1000 genomes]
rs73523232	1.00[EUR][1000 genomes]
rs73524874	1.00[EUR][1000 genomes]
rs73524875	1.00[EUR][1000 genomes]
rs73526914	1.00[EUR][1000 genomes]
rs73526934	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526939	1.00[EUR][1000 genomes]
rs73526944	1.00[EUR][1000 genomes]
rs73526947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526954	1.00[EUR][1000 genomes]
rs73529194	1.00[EUR][1000 genomes]
rs73529199	1.00[EUR][1000 genomes]
rs73531222	1.00[EUR][1000 genomes]
rs73531224	1.00[EUR][1000 genomes]
rs73531227	1.00[EUR][1000 genomes]
rs73531236	1.00[EUR][1000 genomes]
rs73531638	1.00[EUR][1000 genomes]
rs73531644	1.00[EUR][1000 genomes]
rs73531647	1.00[EUR][1000 genomes]
rs73533809	1.00[EUR][1000 genomes]
rs73535823	1.00[EUR][1000 genomes]
rs73535825	1.00[EUR][1000 genomes]
rs73535829	1.00[EUR][1000 genomes]
rs73535847	1.00[EUR][1000 genomes]
rs73537913	1.00[EUR][1000 genomes]
rs73537918	1.00[EUR][1000 genomes]
rs73537929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537933	1.00[EUR][1000 genomes]
rs73537946	1.00[EUR][1000 genomes]
rs73537997	1.00[EUR][1000 genomes]
rs73539914	1.00[EUR][1000 genomes]
rs73539916	1.00[EUR][1000 genomes]
rs73539923	1.00[EUR][1000 genomes]
rs73539929	1.00[EUR][1000 genomes]
rs73662509	1.00[EUR][1000 genomes]
rs73662510	1.00[EUR][1000 genomes]
rs73662518	1.00[EUR][1000 genomes]
rs73662519	1.00[EUR][1000 genomes]
rs73664743	1.00[EUR][1000 genomes]
rs73664756	1.00[EUR][1000 genomes]
rs73664772	1.00[EUR][1000 genomes]
rs73664774	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73664775	1.00[EUR][1000 genomes]
rs73664780	1.00[EUR][1000 genomes]
rs73664783	1.00[EUR][1000 genomes]
rs7388458	1.00[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9495800-9531000	Weak transcription	Gastric	stomach
2	chr8:9501800-9528400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:9501800-9534400	Weak transcription	Fetal Heart	heart
4	chr8:9504200-9529400	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
6	chr8:9506400-9530200	Weak transcription	HepG2	liver
7	chr8:9507800-9529400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:9509400-9545000	Weak transcription	HSMM	muscle
9	chr8:9509600-9529400	Weak transcription	Spleen	Spleen
10	chr8:9509600-9532000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:9510000-9528800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:9511400-9537000	Weak transcription	Left Ventricle	heart
15	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:9512400-9551400	Weak transcription	Dnd41	blood
17	chr8:9512600-9537200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:9512800-9530200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:9513200-9534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:9513200-9564200	Weak transcription	Ovary	ovary
22	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
25	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:9516200-9532000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:9520200-9529400	Weak transcription	Liver	Liver
28	chr8:9520800-9528200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:9521000-9529200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:9521800-9531800	Weak transcription	Fetal Intestine Small	intestine
33	chr8:9522000-9533800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:9522800-9528800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:9523600-9527800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:9523600-9528200	Weak transcription	Primary B cells from cord blood	blood
39	chr8:9523600-9534000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:9523600-9534400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:9523800-9534000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:9525000-9528200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:9525600-9529400	Weak transcription	Psoas Muscle	Psoas
46	chr8:9526200-9528200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:9526800-9530600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:9527200-9530600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:9527200-9530800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:9527200-9531200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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