Variant report

Variant	rs59462993
Chromosome Location	chr8:9616893-9616894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10094356	1.00[EUR][1000 genomes]
rs10098965	1.00[EUR][1000 genomes]
rs10101221	1.00[EUR][1000 genomes]
rs10101642	1.00[EUR][1000 genomes]
rs10102866	1.00[EUR][1000 genomes]
rs10104208	1.00[EUR][1000 genomes]
rs10109453	1.00[EUR][1000 genomes]
rs28452227	1.00[EUR][1000 genomes]
rs28479025	1.00[EUR][1000 genomes]
rs28523514	1.00[EUR][1000 genomes]
rs28635251	1.00[EUR][1000 genomes]
rs3209607	1.00[EUR][1000 genomes]
rs34625531	1.00[EUR][1000 genomes]
rs4342598	1.00[EUR][1000 genomes]
rs55670933	1.00[EUR][1000 genomes]
rs55729276	1.00[EUR][1000 genomes]
rs55870346	1.00[EUR][1000 genomes]
rs55893352	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]
rs56951452	1.00[EUR][1000 genomes]
rs57026077	1.00[EUR][1000 genomes]
rs57673085	1.00[EUR][1000 genomes]
rs58165072	1.00[EUR][1000 genomes]
rs58190269	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58766098	1.00[EUR][1000 genomes]
rs59400423	1.00[EUR][1000 genomes]
rs60044335	1.00[EUR][1000 genomes]
rs60163152	1.00[AFR][1000 genomes]
rs60206878	1.00[EUR][1000 genomes]
rs60862678	1.00[EUR][1000 genomes]
rs61515500	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	1.00[EUR][1000 genomes]
rs73526939	1.00[EUR][1000 genomes]
rs73526944	1.00[EUR][1000 genomes]
rs73526947	1.00[EUR][1000 genomes]
rs73526950	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]
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	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73662518	1.00[EUR][1000 genomes]
rs73662519	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73664756	1.00[EUR][1000 genomes]
rs73664772	1.00[EUR][1000 genomes]
rs73664774	1.00[EUR][1000 genomes]
rs73664775	1.00[EUR][1000 genomes]
rs73664780	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73664783	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
6	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9597600-9617000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:9603000-9638800	Weak transcription	Stomach Mucosa	stomach
9	chr8:9604200-9637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:9604800-9617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:9604800-9617000	Strong transcription	Dnd41	blood
12	chr8:9605000-9617000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:9605000-9617000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:9605000-9617200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:9605200-9617000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:9605200-9617200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:9605400-9617000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:9605400-9617000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:9605400-9628200	Strong transcription	Primary T cells from cord blood	blood
20	chr8:9607400-9623200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:9608400-9619200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:9608400-9625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:9608600-9619000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:9608600-9619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:9608600-9619200	Weak transcription	Ovary	ovary
26	chr8:9608800-9626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:9609400-9621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:9609600-9634600	Weak transcription	Colonic Mucosa	Colon
29	chr8:9610600-9617200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:9610600-9618600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:9611000-9619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:9611600-9619000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:9611600-9620800	Weak transcription	HMEC	breast
34	chr8:9611800-9618600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:9611800-9618800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:9611800-9619000	Weak transcription	HSMMtube	muscle
37	chr8:9611800-9619200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:9611800-9619200	Weak transcription	Psoas Muscle	Psoas
39	chr8:9611800-9620800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:9611800-9625200	Weak transcription	Right Ventricle	heart
41	chr8:9612000-9619000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:9612400-9618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:9612400-9619000	Weak transcription	NH-A	brain
44	chr8:9612400-9619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:9612400-9619200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:9612600-9618800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:9613400-9617200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:9613400-9618600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:9613600-9617000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr8:9614400-9618800	Weak transcription	Placenta	Placenta

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