Variant report

Variant	rs59743902
Chromosome Location	chr12:122781832-122781833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[EUR][1000 genomes]
rs56241657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs58226649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs60258475	1.00[EUR][1000 genomes]
rs60317410	1.00[EUR][1000 genomes]
rs60623525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61096099	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71082959	1.00[EUR][1000 genomes]
rs7955389	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
7	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
8	chr12:122763600-122782000	Weak transcription	Colonic Mucosa	Colon
9	chr12:122763600-122782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:122763600-122782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:122763600-122785200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:122763600-122785400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:122763600-122785400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:122763600-122787400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:122763600-122792600	Weak transcription	Thymus	Thymus
16	chr12:122763600-122792800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:122765600-122789800	Weak transcription	NHEK	skin
19	chr12:122765800-122782200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:122765800-122803400	Weak transcription	K562	blood
21	chr12:122766200-122782200	Weak transcription	Pancreas	Pancrea
22	chr12:122767000-122790000	Weak transcription	HMEC	breast
23	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122770800-122782000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:122772200-122782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:122772400-122782000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:122773200-122782200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:122774000-122782200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:122775600-122833600	Strong transcription	Liver	Liver
32	chr12:122775800-122791600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:122776000-122782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122776600-122782200	Weak transcription	NHLF	lung
36	chr12:122777000-122782000	Weak transcription	Fetal Brain Female	brain
37	chr12:122777200-122782200	Weak transcription	Fetal Thymus	thymus
38	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
39	chr12:122778400-122792200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:122778600-122785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:122778800-122786600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:122779000-122784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:122779000-122784800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:122779000-122791400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:122779000-122794200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:122779200-122784200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:122779200-122785000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:122779400-122795400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:122779800-122782200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:122779800-122782400	Strong transcription	NHDF-Ad	bronchial

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