Variant report

Variant	rs7543211
Chromosome Location	chr1:45496668-45496669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45479264..45481887-chr1:45494607..45496858,2	K562	blood:
2	chr1:45496126..45498745-chr1:45510128..45512403,2	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11548990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173208	0.86[AMR][1000 genomes]
rs1969084	0.95[AMR][1000 genomes]
rs1995403	0.95[AMR][1000 genomes]
rs2228084	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234480	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346685	0.86[AMR][1000 genomes]
rs346686	0.86[AMR][1000 genomes]
rs346703	0.86[AMR][1000 genomes]
rs346704	0.95[AMR][1000 genomes]
rs346730	0.86[AMR][1000 genomes]
rs409082	0.86[AMR][1000 genomes]
rs412055	0.86[AMR][1000 genomes]
rs41312020	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415614	0.86[AMR][1000 genomes]
rs4660835	0.95[AMR][1000 genomes]
rs59432881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429556	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6664113	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6693885	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72676543	0.81[EUR][1000 genomes]
rs72684406	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684412	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684416	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72684425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684426	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684447	0.95[AMR][1000 genomes]
rs72684454	0.86[AMR][1000 genomes]
rs7528534	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:45480800-45500600	Weak transcription	HepG2	liver
4	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
5	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
7	chr1:45481200-45510200	Weak transcription	Lung	lung
8	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
10	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
12	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
13	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:45484200-45499800	Weak transcription	Fetal Stomach	stomach
17	chr1:45484400-45499200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:45484600-45499800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:45484800-45497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:45484800-45499200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:45484800-45499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:45484800-45499800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:45484800-45499800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:45485000-45499800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:45485800-45501400	Weak transcription	Ovary	ovary
26	chr1:45486600-45499200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:45487400-45498600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:45487400-45499200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:45489800-45499800	Weak transcription	Fetal Brain Female	brain
30	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
31	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:45494400-45499800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:45494600-45504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:45495200-45499800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:45496600-45498600	Strong transcription	Fetal Intestine Small	intestine

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