Variant report

Variant	rs2267276
Chromosome Location	chr22:34122979-34122980
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1001213	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs12157940	0.85[JPT][hapmap]
rs16992904	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16992908	0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16992910	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16992923	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs16992929	0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes]
rs16992967	0.87[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs2267277	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs2267278	0.81[JPT][hapmap]
rs2267279	0.82[JPT][hapmap];1.00[AFR][1000 genomes]
rs2267280	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs2267281	0.81[JPT][hapmap]
rs2283935	0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes]
rs2283936	0.81[JPT][hapmap]
rs2283937	0.81[JPT][hapmap]
rs2283938	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs2283940	1.00[MKK][hapmap]
rs5999081	0.94[JPT][hapmap]
rs5999082	0.93[JPT][hapmap]
rs5999084	0.87[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]
rs5999086	0.94[JPT][hapmap]
rs5999087	0.94[JPT][hapmap]
rs62225402	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62225403	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62225404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62225405	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62225407	1.00[AFR][1000 genomes]
rs62225408	1.00[AFR][1000 genomes]
rs62225410	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1060684	chr22:34108462-34140653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	nsv524432	chr22:34119866-34146368	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2267276	RP9P	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
4	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:34119800-34124200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:34119800-34124800	Enhancers	Left Ventricle	heart
8	chr22:34120200-34125600	Weak transcription	Gastric	stomach
9	chr22:34120200-34125800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:34120200-34135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:34120400-34135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:34120800-34124200	Enhancers	Colon Smooth Muscle	Colon
13	chr22:34120800-34127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:34121000-34124200	Enhancers	Pancreas	Pancrea
15	chr22:34121200-34123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:34121200-34123200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:34121200-34123400	Enhancers	Fetal Muscle Leg	muscle
18	chr22:34121200-34125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:34121200-34125800	Weak transcription	Spleen	Spleen
20	chr22:34121400-34123000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:34121400-34123000	Enhancers	NHEK	skin
22	chr22:34121400-34123000	Enhancers	NHLF	lung
23	chr22:34121400-34123800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:34121400-34124000	Enhancers	Rectal Smooth Muscle	rectum
25	chr22:34121400-34124800	Enhancers	Ovary	ovary
26	chr22:34121600-34123800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:34121600-34125600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:34121600-34128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:34121600-34130000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:34121600-34136800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:34121800-34123000	Enhancers	HSMM	muscle
32	chr22:34121800-34123400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:34122000-34123000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr22:34122000-34123000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr22:34122000-34123000	Enhancers	NHDF-Ad	bronchial
36	chr22:34122000-34123600	Enhancers	Fetal Brain Female	brain
37	chr22:34122000-34123800	Enhancers	Fetal Stomach	stomach
38	chr22:34122200-34123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:34122200-34123000	Enhancers	Adipose Nuclei	Adipose
40	chr22:34122200-34123200	Enhancers	Aorta	Aorta
41	chr22:34122400-34123200	Enhancers	Liver	Liver
42	chr22:34122400-34124000	Enhancers	Right Atrium	heart
43	chr22:34122600-34123000	Flanking Active TSS	Fetal Heart	heart
44	chr22:34122600-34123000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr22:34122600-34124800	Enhancers	Right Ventricle	heart
46	chr22:34122800-34123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:34122800-34124200	Enhancers	Stomach Smooth Muscle	stomach
48	chr22:34122800-34125600	Weak transcription	Lung	lung
49	chr22:34122800-34125600	Weak transcription	Psoas Muscle	Psoas
50	chr22:34122800-34129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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