Variant report

Variant	rs12543921
Chromosome Location	chr8:38943567-38943568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38943536..38945522-chr8:38947386..38949117,2	K562	blood:
2	chr8:38938312..38941200-chr8:38943237..38945029,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10958813	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11777149	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11777376	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11787126	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12056655	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12541231	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543388	0.83[EUR][1000 genomes]
rs12546318	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548006	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12548416	0.83[EUR][1000 genomes]
rs12548948	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12549547	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13248324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13256952	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13268394	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13274567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34070223	0.83[EUR][1000 genomes]
rs34138150	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34185462	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391544	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35534138	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4129095	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4495395	0.81[EUR][1000 genomes]
rs4543512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733901	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733970	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66925354	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643902	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643904	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9643906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
4	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
9	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
10	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
11	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
12	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:38919000-38944400	Weak transcription	Lung	lung
14	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:38919000-38970400	Weak transcription	K562	blood
17	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
20	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
21	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
22	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:38921000-38965000	Weak transcription	Gastric	stomach
25	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:38922000-38950400	Weak transcription	Fetal Brain Female	brain
27	chr8:38923600-38945600	Weak transcription	Fetal Intestine Small	intestine
28	chr8:38923600-38949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:38926200-38963600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:38927600-38945600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:38929800-38950600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr8:38930200-38944400	Weak transcription	Pancreas	Pancrea
33	chr8:38930800-38944200	Weak transcription	Hela-S3	cervix
34	chr8:38931200-38948400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:38932400-38964800	Weak transcription	Brain Germinal Matrix	brain
36	chr8:38933600-38951400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:38934000-38960800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:38935600-38960200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:38935600-38964800	Weak transcription	Brain Anterior Caudate	brain
40	chr8:38935800-38943800	Weak transcription	Fetal Heart	heart
41	chr8:38935800-38948400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:38935800-38958800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:38938200-38944400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:38938400-38947800	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:38938400-38948600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:38938800-38944400	Weak transcription	NHEK	skin
47	chr8:38938800-38946400	Weak transcription	Fetal Stomach	stomach
48	chr8:38939200-38947800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:38939200-38964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:38939800-38945200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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