Variant report

Variant	rs12143573
Chromosome Location	chr1:193116417-193116418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10494675	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10801186	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12122868	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123069	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123750	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123793	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12124921	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12124924	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12128125	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12129126	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135148	1.00[AFR][1000 genomes]
rs12135670	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12137391	1.00[AFR][1000 genomes]
rs12141029	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141336	1.00[AFR][1000 genomes]
rs12141559	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143361	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145761	1.00[AFR][1000 genomes]
rs1325196	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17526825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17592121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17592633	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17593120	1.00[AFR][1000 genomes]
rs28930673	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28930674	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6663374	1.00[AFR][1000 genomes]
rs6667917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	0.89[EUR][1000 genomes]
rs72731058	0.91[EUR][1000 genomes]
rs72731066	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72731068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740227	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740228	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740230	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740261	1.00[AFR][1000 genomes]
rs72740270	1.00[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
3	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
5	chr1:193095000-193124400	Strong transcription	Dnd41	blood
6	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
10	chr1:193101600-193124800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:193104200-193123400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:193104200-193126200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:193104400-193124000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:193107000-193121600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:193109600-193119400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:193109600-193126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:193109600-193128200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:193109800-193119200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:193109800-193119400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:193109800-193125800	Weak transcription	Gastric	stomach
23	chr1:193109800-193126200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:193110000-193116600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:193110000-193117000	Weak transcription	Thymus	Thymus
26	chr1:193110000-193119200	Weak transcription	Pancreas	Pancrea
27	chr1:193110000-193123200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:193110000-193139600	Weak transcription	Esophagus	oesophagus
29	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
30	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:193110200-193116800	Weak transcription	Fetal Brain Female	brain
32	chr1:193110200-193125800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:193111400-193117000	Weak transcription	NHDF-Ad	bronchial
34	chr1:193111600-193117000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:193111600-193137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:193111800-193123800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:193112000-193117000	Weak transcription	A549	lung
38	chr1:193112000-193118000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:193112000-193122600	Weak transcription	HMEC	breast
40	chr1:193112000-193124000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:193112000-193125200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:193112200-193126600	Weak transcription	Brain Angular Gyrus	brain
43	chr1:193112600-193122000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:193113200-193118600	Strong transcription	Hela-S3	cervix
45	chr1:193113400-193124200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:193113400-193125800	Strong transcription	Primary B cells from cord blood	blood
47	chr1:193113600-193123200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:193113600-193124000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:193113600-193124200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:193113600-193124200	Strong transcription	GM12878-XiMat	blood

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