Variant report

Variant	rs130411
Chromosome Location	chr22:28485558-28485559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10483141	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12170161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs130414	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134498	0.85[AMR][1000 genomes]
rs134501	1.00[AMR][1000 genomes]
rs134502	0.85[AMR][1000 genomes]
rs134503	1.00[AMR][1000 genomes]
rs134504	1.00[AMR][1000 genomes]
rs134505	1.00[AMR][1000 genomes]
rs134508	1.00[AMR][1000 genomes]
rs134509	1.00[AMR][1000 genomes]
rs134510	1.00[AMR][1000 genomes]
rs134512	1.00[AMR][1000 genomes]
rs134513	1.00[AMR][1000 genomes]
rs134515	1.00[AMR][1000 genomes]
rs135641	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs135644	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs135645	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs135649	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16985909	0.92[ASN][1000 genomes]
rs16985925	0.89[EUR][1000 genomes]
rs16985933	0.89[EUR][1000 genomes]
rs16985951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16986257	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16986288	0.85[AMR][1000 genomes]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17483998	0.92[ASN][1000 genomes]
rs2345011	1.00[CEU][hapmap]
rs5752697	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762573	1.00[AMR][1000 genomes]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs79104	1.00[AMR][1000 genomes]
rs79107	1.00[AMR][1000 genomes]
rs8135697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:28466400-28489800	Weak transcription	Fetal Brain Male	brain
3	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
4	chr22:28468600-28489800	Weak transcription	Fetal Kidney	kidney
5	chr22:28470000-28486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:28471600-28487400	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:28471600-28491800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:28471800-28486600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:28471800-28486800	Weak transcription	Adipose Nuclei	Adipose
10	chr22:28471800-28488400	Weak transcription	Left Ventricle	heart
11	chr22:28471800-28491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:28471800-28492000	Weak transcription	Aorta	Aorta
13	chr22:28472000-28487400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:28472000-28489600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:28472000-28489800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:28472000-28494800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
18	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
19	chr22:28472400-28494200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
21	chr22:28472800-28501000	Weak transcription	Gastric	stomach
22	chr22:28474000-28488600	Weak transcription	Fetal Lung	lung
23	chr22:28475200-28489800	Weak transcription	Fetal Heart	heart
24	chr22:28475400-28487400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:28480200-28487400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:28480200-28493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:28480400-28485800	Weak transcription	Dnd41	blood
28	chr22:28480400-28486400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:28480400-28486800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:28480400-28486800	Weak transcription	Fetal Brain Female	brain
31	chr22:28480400-28486800	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:28480400-28487400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:28480400-28487400	Weak transcription	Fetal Stomach	stomach
34	chr22:28480400-28487400	Weak transcription	Ovary	ovary
35	chr22:28480400-28490000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:28480400-28490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28480400-28490000	Weak transcription	Brain Germinal Matrix	brain
38	chr22:28480400-28492000	Weak transcription	Fetal Intestine Small	intestine
39	chr22:28480400-28494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:28481000-28485800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28481000-28487400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
43	chr22:28484600-28487000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:28485000-28487400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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