Variant report

Variant	rs2283927
Chromosome Location	chr22:34062505-34062506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2267247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749640	0.84[CHB][hapmap]
rs5754630	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5754632	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609853	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	nsv914988	chr22:33975998-34083987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv934161	chr22:33979015-34118621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv588935	chr22:34008430-34073758	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv914989	chr22:34011334-34083987	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34052400-34063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34053800-34064200	Weak transcription	Pancreas	Pancrea
3	chr22:34053800-34070400	Weak transcription	Lung	lung
4	chr22:34055200-34068200	Weak transcription	Spleen	Spleen
5	chr22:34056600-34063000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:34056800-34062600	Weak transcription	Brain Substantia Nigra	brain
7	chr22:34057600-34066200	Enhancers	Fetal Heart	heart
8	chr22:34060000-34064600	Enhancers	Fetal Brain Male	brain
9	chr22:34061000-34064800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:34062000-34062800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:34062000-34063200	Enhancers	Brain Angular Gyrus	brain
12	chr22:34062000-34063600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr22:34062000-34063600	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:34062000-34064800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr22:34062000-34066600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:34062000-34067600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr22:34062200-34062600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr22:34062200-34062600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:34062200-34062600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:34062200-34062600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr22:34062200-34062600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:34062200-34062800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:34062200-34062800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr22:34062200-34063000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:34062200-34063000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:34062200-34063000	Enhancers	Brain Cingulate Gyrus	brain
27	chr22:34062200-34063200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr22:34062200-34063200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:34062200-34063200	Enhancers	GM12878-XiMat	blood
30	chr22:34062200-34063400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr22:34062200-34063600	Enhancers	Brain Anterior Caudate	brain
32	chr22:34062200-34063800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:34062200-34063800	Enhancers	Fetal Brain Female	brain
34	chr22:34062200-34066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:34062200-34066800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr22:34062200-34067600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr22:34062400-34062600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:34062400-34062600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:34062400-34062600	Enhancers	Gastric	stomach
40	chr22:34062400-34062800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr22:34062400-34062800	Enhancers	Fetal Muscle Leg	muscle
42	chr22:34062400-34063200	Enhancers	Fetal Muscle Trunk	muscle
43	chr22:34062400-34063200	Enhancers	Ovary	ovary
44	chr22:34062400-34063200	Enhancers	Psoas Muscle	Psoas
45	chr22:34062400-34063400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr22:34062400-34063400	Enhancers	Colon Smooth Muscle	Colon
47	chr22:34062400-34063400	Enhancers	Fetal Stomach	stomach
48	chr22:34062400-34063600	Enhancers	Right Atrium	heart
49	chr22:34062400-34063600	Enhancers	Right Ventricle	heart
50	chr22:34062400-34064400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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