Variant report

Variant	rs5999087
Chromosome Location	chr22:34146971-34146972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1001213	0.88[JPT][hapmap]
rs12157940	0.81[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs16992904	0.88[JPT][hapmap]
rs16992908	0.83[JPT][hapmap]
rs16992910	0.86[CHB][hapmap]
rs16992923	0.88[JPT][hapmap]
rs16992929	0.88[JPT][hapmap]
rs16992967	0.92[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2267276	0.94[JPT][hapmap]
rs2267277	0.86[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2267278	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2267279	0.88[JPT][hapmap]
rs2267280	0.88[JPT][hapmap]
rs2267281	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2283934	0.81[CHB][hapmap]
rs2283935	0.88[JPT][hapmap]
rs2283936	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2283937	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2283938	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5999080	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5999081	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999082	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999084	0.92[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs5999085	0.90[ASN][1000 genomes]
rs5999086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999088	0.90[ASN][1000 genomes]
rs62225408	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv588937	chr22:34144823-34156607	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34123200-34152000	Weak transcription	Aorta	Aorta
2	chr22:34124800-34171000	Weak transcription	Ovary	ovary
3	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
4	chr22:34131000-34154200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr22:34133800-34147600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
7	chr22:34136200-34148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:34136200-34152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:34136200-34152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:34136400-34152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:34136800-34152600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:34137200-34151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:34137400-34152600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:34137600-34151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:34137800-34152800	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:34138000-34148600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:34138000-34152600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:34138000-34152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:34138000-34160800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:34140800-34149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:34140800-34152600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:34141600-34152600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:34141800-34149400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:34141800-34152400	Weak transcription	Fetal Stomach	stomach
25	chr22:34141800-34153200	Weak transcription	Psoas Muscle	Psoas
26	chr22:34142800-34152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:34143400-34160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:34143800-34149800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:34144400-34149400	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:34145000-34148600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:34145000-34151000	Weak transcription	Fetal Intestine Large	intestine
32	chr22:34145000-34154000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr22:34145200-34152600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:34146000-34151400	Weak transcription	Fetal Heart	heart
35	chr22:34146000-34152600	Weak transcription	Right Ventricle	heart
36	chr22:34146200-34147600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:34146400-34152600	Weak transcription	Gastric	stomach
38	chr22:34146400-34152600	Weak transcription	Left Ventricle	heart

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