Variant report

Variant	rs2213314
Chromosome Location	chr22:34220688-34220689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1008501	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11913622	0.87[ASN][1000 genomes]
rs12053767	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12053768	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs17311	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs2105844	0.88[ASN][1000 genomes]
rs238864	0.80[CHB][hapmap]
rs453075	0.87[CHB][hapmap]
rs56077529	0.87[ASN][1000 genomes]
rs56763559	0.87[ASN][1000 genomes]
rs5749664	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs5754664	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5754665	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5754668	0.82[ASN][1000 genomes]
rs5754670	0.87[ASN][1000 genomes]
rs5754673	0.85[AFR][1000 genomes]
rs5754674	0.88[ASN][1000 genomes]
rs5754675	0.88[ASN][1000 genomes]
rs5754677	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs5754691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5754696	0.96[ASN][1000 genomes]
rs5754703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754709	0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs5994801	0.86[CHB][hapmap]
rs60930656	0.85[AFR][1000 genomes]
rs686137	0.87[CHB][hapmap]
rs73170586	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8135273	0.85[AFR][1000 genomes];0.90[ASN][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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv526550	chr22:34204930-34221959	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1056001	chr22:34206144-34221959	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34212600-34221600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:34213000-34228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:34213400-34225800	Weak transcription	Fetal Brain Male	brain
6	chr22:34213600-34221600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:34215200-34225800	Weak transcription	Fetal Stomach	stomach
8	chr22:34216600-34222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:34216800-34220800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr22:34216800-34227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:34217000-34226200	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:34217400-34220800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:34217400-34221800	Enhancers	NHDF-Ad	bronchial
14	chr22:34217400-34222400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:34217800-34220800	Weak transcription	Right Ventricle	heart
16	chr22:34217800-34222600	Enhancers	Psoas Muscle	Psoas
17	chr22:34217800-34222800	Enhancers	Left Ventricle	heart
18	chr22:34218200-34220800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:34218200-34221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:34218200-34222000	Enhancers	Right Atrium	heart
21	chr22:34218400-34222600	Enhancers	Fetal Heart	heart
22	chr22:34218800-34222400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:34219000-34220800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:34219000-34221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:34219400-34221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:34219600-34221600	Weak transcription	HSMMtube	muscle
27	chr22:34219600-34222200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr22:34219800-34220800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr22:34219800-34224200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr22:34219800-34225800	Weak transcription	Pancreas	Pancrea
31	chr22:34219800-34226400	Weak transcription	Brain Anterior Caudate	brain
32	chr22:34219800-34227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:34219800-34228400	Weak transcription	Esophagus	oesophagus
34	chr22:34219800-34231800	Weak transcription	Aorta	Aorta
35	chr22:34220000-34221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:34220000-34225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:34220000-34227800	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:34220000-34228000	Weak transcription	Stomach Mucosa	stomach
39	chr22:34220000-34228400	Weak transcription	Brain Substantia Nigra	brain
40	chr22:34220400-34222200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr22:34220600-34221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:34220600-34221600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:34220600-34221600	Weak transcription	Spleen	Spleen
44	chr22:34220600-34226200	Weak transcription	Gastric	stomach
45	chr22:34220600-34227800	Weak transcription	Ovary	ovary

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