Variant report

Variant	rs16991084
Chromosome Location	chr22:33113375-33113376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10854627	0.83[CHB][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10854628	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11089591	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484015	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs12484429	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs13054529	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13058500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs1475978	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1475979	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16991028	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899193	0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3827339	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4821089	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[ASN][1000 genomes]
rs5754227	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs725337	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs725338	0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs7286819	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7289865	0.81[ASN][1000 genomes]
rs7291198	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs7291871	0.86[ASN][1000 genomes]
rs731933	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs743741	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs743742	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs743744	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs743745	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs8136470	0.83[CHB][hapmap]
rs9619301	0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs997120	0.87[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.86[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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr22:33103000-33113600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:33105200-33113400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:33105200-33113800	Weak transcription	NH-A	brain
5	chr22:33108800-33113600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:33109000-33113400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33109000-33113800	Weak transcription	Spleen	Spleen
8	chr22:33109200-33113400	Weak transcription	Adipose Nuclei	Adipose
9	chr22:33109200-33115600	Weak transcription	Thymus	Thymus
10	chr22:33109400-33113400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:33109400-33113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:33109400-33115800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr22:33110400-33113400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:33110400-33113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:33110400-33116800	Weak transcription	NHDF-Ad	bronchial
16	chr22:33111000-33118600	Weak transcription	HSMMtube	muscle
17	chr22:33111200-33114600	Enhancers	Fetal Stomach	stomach
18	chr22:33111400-33116800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:33112000-33114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:33112000-33115000	Enhancers	Placenta	Placenta
21	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
22	chr22:33112400-33114000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33112400-33114800	Enhancers	Fetal Muscle Leg	muscle
24	chr22:33113000-33113800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:33113000-33114400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:33113200-33114000	Enhancers	Right Ventricle	heart
28	chr22:33113200-33114200	Enhancers	Osteobl	bone
29	chr22:33113200-33114400	Enhancers	Colon Smooth Muscle	Colon
30	chr22:33113200-33114400	Enhancers	Fetal Lung	lung
31	chr22:33113200-33114400	Enhancers	Left Ventricle	heart
32	chr22:33113200-33114400	Enhancers	Lung	lung
33	chr22:33113200-33114400	Enhancers	Right Atrium	heart
34	chr22:33113200-33114400	Enhancers	NHLF	lung
35	chr22:33113200-33114600	Enhancers	NHEK	skin
36	chr22:33113200-33115000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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