Variant report

Variant	rs73984233
Chromosome Location	chr2:205438554-205438555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205438155..205440984-chr2:205442811..205444516,2	K562	blood:
2	chr2:205425587..205428790-chr2:205435379..205438697,3	K562	blood:
3	chr2:205425587..205427655-chr2:205437197..205439824,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11885318	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11892599	0.84[AFR][1000 genomes]
rs55970367	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57675666	0.85[AFR][1000 genomes]
rs57940164	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61049352	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61084963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743282	0.89[AFR][1000 genomes]
rs73057273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057289	0.85[AFR][1000 genomes]
rs7557006	0.80[AFR][1000 genomes]
rs7575842	0.81[AFR][1000 genomes]
rs9752333	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205425800-205454400	Weak transcription	HSMM	muscle
2	chr2:205431600-205440600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:205435000-205441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:205435200-205438600	Enhancers	Liver	Liver
5	chr2:205435400-205440200	Weak transcription	Psoas Muscle	Psoas
6	chr2:205436200-205438800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205437200-205439600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:205437800-205438800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:205437800-205439400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:205437800-205439400	Enhancers	Brain Anterior Caudate	brain
11	chr2:205438000-205438800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:205438000-205438800	Enhancers	Left Ventricle	heart
13	chr2:205438200-205438600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:205438200-205439000	Enhancers	Ovary	ovary
15	chr2:205438200-205439200	Enhancers	Fetal Intestine Large	intestine
16	chr2:205438200-205439400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:205438200-205439400	Enhancers	Pancreas	Pancrea
18	chr2:205438200-205440600	Enhancers	Brain Substantia Nigra	brain
19	chr2:205438400-205438800	Enhancers	Esophagus	oesophagus
20	chr2:205438400-205438800	Enhancers	Gastric	stomach
21	chr2:205438400-205438800	Enhancers	Lung	lung
22	chr2:205438400-205439000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:205438400-205439000	Enhancers	Aorta	Aorta
24	chr2:205438400-205439000	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:205438400-205439400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:205438400-205439600	Enhancers	Right Atrium	heart

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