Variant report

Variant	rs16985951
Chromosome Location	chr22:28469825-28469826
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	chr22:28464126..28466768-chr22:28468143..28470001,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10483141	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483148	1.00[AMR][1000 genomes]
rs130411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs135638	0.90[AMR][1000 genomes]
rs135641	1.00[AMR][1000 genomes]
rs135643	0.90[AMR][1000 genomes]
rs135644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs135645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs135647	0.90[AMR][1000 genomes]
rs135649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs135655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs135659	0.90[AMR][1000 genomes]
rs16985862	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16985870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16985909	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16985925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986244	1.00[AMR][1000 genomes]
rs16986248	1.00[AMR][1000 genomes]
rs16986251	1.00[AMR][1000 genomes]
rs16986254	1.00[AMR][1000 genomes]
rs16986257	1.00[AMR][1000 genomes]
rs16986266	1.00[AMR][1000 genomes]
rs17391737	0.80[AMR][1000 genomes]
rs17481471	0.80[AMR][1000 genomes]
rs17482652	0.80[AMR][1000 genomes]
rs17483227	0.80[AMR][1000 genomes]
rs17483998	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2038286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2881204	1.00[AMR][1000 genomes]
rs55868187	0.83[AMR][1000 genomes]
rs5752697	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7286237	0.80[AMR][1000 genomes]
rs7290640	0.80[AMR][1000 genomes]
rs8135697	0.84[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
2	chr22:28445400-28470800	Weak transcription	Lung	lung
3	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
4	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
9	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
10	chr22:28459600-28471400	Weak transcription	HepG2	liver
11	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
12	chr22:28461600-28470800	Weak transcription	Right Ventricle	heart
13	chr22:28461600-28471200	Weak transcription	Ovary	ovary
14	chr22:28462000-28471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:28463000-28470400	Weak transcription	Left Ventricle	heart
16	chr22:28463000-28471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:28465400-28471200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:28465400-28471200	Weak transcription	HSMMtube	muscle
19	chr22:28465800-28471400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:28466000-28470600	Weak transcription	Osteobl	bone
21	chr22:28466000-28471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:28466200-28471800	Strong transcription	Dnd41	blood
23	chr22:28466400-28471200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:28466400-28471200	Weak transcription	NHLF	lung
25	chr22:28466400-28489800	Weak transcription	Fetal Brain Male	brain
26	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
27	chr22:28467400-28470400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:28467400-28470400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:28467600-28470000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:28467800-28470000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:28467800-28470600	Strong transcription	Fetal Muscle Leg	muscle
32	chr22:28467800-28470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:28467800-28471200	Weak transcription	Brain Substantia Nigra	brain
34	chr22:28468000-28470000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr22:28468000-28471000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:28468000-28471200	Strong transcription	Fetal Stomach	stomach
37	chr22:28468400-28470000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:28468400-28471200	Weak transcription	Fetal Lung	lung
39	chr22:28468400-28471200	Weak transcription	NHDF-Ad	bronchial
40	chr22:28468600-28470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:28468600-28471200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:28468600-28477200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr22:28468600-28489800	Weak transcription	Fetal Kidney	kidney
44	chr22:28468800-28470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:28468800-28480000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr22:28469000-28470400	Weak transcription	Fetal Intestine Large	intestine
47	chr22:28469000-28470400	Weak transcription	Fetal Intestine Small	intestine
48	chr22:28469000-28470400	Weak transcription	Gastric	stomach
49	chr22:28469000-28470600	Weak transcription	Adipose Nuclei	Adipose
50	chr22:28469000-28471200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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