Variant report

Variant	rs2283930
Chromosome Location	chr22:34095499-34095500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2267265	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749646	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754644	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1056845	chr22:34066401-34102719	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34063200-34096000	Weak transcription	GM12878-XiMat	blood
2	chr22:34071000-34096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:34071800-34096600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:34075000-34095600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:34075000-34096800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:34075000-34100400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
8	chr22:34078400-34096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:34080800-34096600	Weak transcription	Fetal Intestine Small	intestine
10	chr22:34081200-34096200	Weak transcription	Ovary	ovary
11	chr22:34081600-34096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:34081800-34098800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:34082200-34096800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr22:34082800-34096200	Weak transcription	Fetal Brain Female	brain
15	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:34086800-34096800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:34087000-34096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:34087000-34109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:34087600-34096200	Weak transcription	Right Ventricle	heart
20	chr22:34087800-34096600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:34089600-34096200	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:34089800-34099600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:34090400-34100200	Weak transcription	Aorta	Aorta
24	chr22:34090800-34099400	Weak transcription	Esophagus	oesophagus
25	chr22:34091600-34115800	Weak transcription	Pancreas	Pancrea
26	chr22:34092200-34097600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:34092400-34109200	Weak transcription	Fetal Intestine Large	intestine
28	chr22:34093000-34095600	Enhancers	Fetal Muscle Leg	muscle
29	chr22:34093400-34096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:34093600-34095800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:34093600-34096200	Weak transcription	Left Ventricle	heart
32	chr22:34093600-34097800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr22:34093800-34095600	Enhancers	NHDF-Ad	bronchial
34	chr22:34093800-34097400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:34093800-34098600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:34094000-34096200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:34094000-34097000	Weak transcription	Fetal Heart	heart
38	chr22:34094000-34097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:34094000-34099400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr22:34094200-34097800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:34094200-34098800	Weak transcription	HepG2	liver
42	chr22:34094400-34102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:34094600-34097200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:34094600-34098200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:34094800-34096200	Weak transcription	Lung	lung
46	chr22:34094800-34097600	Strong transcription	Liver	Liver
47	chr22:34095000-34095600	Enhancers	Fetal Lung	lung
48	chr22:34095000-34097200	Strong transcription	Gastric	stomach
49	chr22:34095400-34096400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:34095400-34096400	Weak transcription	Fetal Stomach	stomach

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