Variant report

Variant	rs134508
Chromosome Location	chr22:28754783-28754784
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	chr22:28746054..28748860-chr22:28753895..28756337,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10483148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[ASN][1000 genomes]
rs130411	1.00[AMR][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134528	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[ASN][1000 genomes]
rs135649	0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986400	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35438111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
2	chr22:28742800-28759600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:28743000-28759000	Weak transcription	Dnd41	blood
4	chr22:28748000-28755800	Weak transcription	Fetal Intestine Small	intestine
5	chr22:28748000-28759600	Weak transcription	Fetal Lung	lung
6	chr22:28752800-28759000	Weak transcription	Ovary	ovary
7	chr22:28752800-28768600	Weak transcription	Left Ventricle	heart
8	chr22:28753200-28755000	Enhancers	Brain Germinal Matrix	brain
9	chr22:28753800-28754800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr22:28753800-28754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:28753800-28754800	Enhancers	Fetal Brain Female	brain
12	chr22:28753800-28755000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr22:28754000-28754800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr22:28754000-28754800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr22:28754000-28754800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:28754000-28755000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:28754000-28759400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:28754200-28754800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr22:28754200-28754800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr22:28754200-28754800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:28754200-28754800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr22:28754200-28754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:28754200-28754800	Enhancers	Fetal Heart	heart
24	chr22:28754200-28755000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:28754200-28755000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr22:28754200-28755000	Enhancers	Right Ventricle	heart
27	chr22:28754200-28755800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:28754200-28755800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr22:28754200-28756200	Enhancers	Fetal Brain Male	brain
30	chr22:28754400-28754800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:28754400-28754800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr22:28754400-28754800	Enhancers	Brain Anterior Caudate	brain
33	chr22:28754400-28759200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:28754600-28754800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:28754600-28757200	Weak transcription	Fetal Kidney	kidney
36	chr22:28754600-28759200	Weak transcription	Adipose Nuclei	Adipose

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