Variant report

Variant	rs2899193
Chromosome Location	chr22:33109382-33109383
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10854627	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10854628	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11089591	0.87[ASN][1000 genomes]
rs11913403	0.89[ASN][1000 genomes]
rs13054529	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs13058500	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1475978	0.86[JPT][hapmap]
rs1475979	0.86[JPT][hapmap]
rs16991028	0.86[JPT][hapmap]
rs16991084	0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3827339	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821089	0.82[AMR][1000 genomes]
rs5754222	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs5754226	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs5754227	0.82[CHB][hapmap]
rs725337	0.84[CHB][hapmap]
rs725338	0.82[CHB][hapmap]
rs7286819	0.85[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7291090	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs7291198	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7291871	0.99[ASN][1000 genomes]
rs731933	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743741	0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743742	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743744	0.86[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs743745	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136470	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs9619301	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs997120	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv979672	chr22:33105500-33109433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 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	chr22:33105200-33110000	Weak transcription	Fetal Lung	lung
4	chr22:33105200-33110800	Weak transcription	HSMMtube	muscle
5	chr22:33105200-33113400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:33105200-33113800	Weak transcription	NH-A	brain
7	chr22:33105400-33110000	Weak transcription	Fetal Stomach	stomach
8	chr22:33107600-33109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33107600-33110400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:33107800-33110600	Enhancers	Placenta	Placenta
11	chr22:33107800-33111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:33108000-33110400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:33108000-33110400	Enhancers	NHDF-Ad	bronchial
14	chr22:33108000-33111400	Enhancers	Osteobl	bone
15	chr22:33108200-33109400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr22:33108200-33110200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:33108200-33112400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:33108400-33109400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:33108400-33109400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:33108600-33109400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:33108800-33109400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:33108800-33110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:33108800-33110000	Weak transcription	Right Ventricle	heart
24	chr22:33108800-33113200	Weak transcription	Left Ventricle	heart
25	chr22:33108800-33113200	Weak transcription	Lung	lung
26	chr22:33108800-33113200	Weak transcription	NHLF	lung
27	chr22:33108800-33113600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:33109000-33109400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:33109000-33110200	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:33109000-33113400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:33109000-33113800	Weak transcription	Spleen	Spleen
32	chr22:33109200-33113400	Weak transcription	Adipose Nuclei	Adipose
33	chr22:33109200-33115600	Weak transcription	Thymus	Thymus

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