Variant report

Variant	rs5749668
Chromosome Location	chr22:34204203-34204204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs110689	1.00[CHB][hapmap]
rs173237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2018743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs238857	1.00[CHB][hapmap]
rs238859	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs238862	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs238863	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2413201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2899213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379239	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs412701	0.88[AMR][1000 genomes]
rs415551	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs419898	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs424576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs424784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs444993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs447336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs454398	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs481698	1.00[CHB][hapmap]
rs4820118	1.00[CHB][hapmap]
rs4821187	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs493192	1.00[CHB][hapmap]
rs496956	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs5749665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749674	0.91[AFR][1000 genomes]
rs5754676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5754707	0.81[ASN][1000 genomes]
rs5999109	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs722659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34177000-34204600	Weak transcription	Gastric	stomach
2	chr22:34187800-34204400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:34193600-34208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:34197600-34207600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:34197800-34212200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:34199000-34206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:34199800-34208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34200200-34207000	Weak transcription	Fetal Lung	lung
9	chr22:34200600-34204400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr22:34200800-34205200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:34201000-34207200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:34201400-34204400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:34201400-34205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:34202000-34204600	Enhancers	NHLF	lung
16	chr22:34202000-34204800	Enhancers	Rectal Smooth Muscle	rectum
17	chr22:34202000-34204800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:34202000-34208400	Enhancers	Fetal Heart	heart
19	chr22:34202200-34204400	Enhancers	NHDF-Ad	bronchial
20	chr22:34202400-34207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:34202600-34204600	Enhancers	Colon Smooth Muscle	Colon
22	chr22:34202600-34206400	Weak transcription	Fetal Stomach	stomach
23	chr22:34202600-34206600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr22:34202600-34208200	Weak transcription	Stomach Mucosa	stomach
25	chr22:34202600-34208200	Weak transcription	Spleen	Spleen
26	chr22:34202800-34204400	Weak transcription	Right Atrium	heart
27	chr22:34202800-34205000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:34202800-34207400	Weak transcription	Fetal Intestine Small	intestine
29	chr22:34202800-34208200	Weak transcription	Lung	lung
30	chr22:34203000-34204400	Weak transcription	Right Ventricle	heart
31	chr22:34203000-34204600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:34203200-34204400	Weak transcription	Left Ventricle	heart
33	chr22:34203200-34204400	Weak transcription	Ovary	ovary
34	chr22:34203200-34207600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr22:34203200-34208200	Weak transcription	Liver	Liver
36	chr22:34203400-34204600	Enhancers	Brain Anterior Caudate	brain
37	chr22:34203600-34204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:34203600-34204600	Weak transcription	GM12878-XiMat	blood
39	chr22:34203600-34207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:34203600-34207800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:34203800-34204600	Enhancers	NH-A	brain
42	chr22:34203800-34206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:34204000-34204400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr22:34204000-34204800	Enhancers	Psoas Muscle	Psoas
45	chr22:34204200-34204600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:34204200-34204800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr22:34204200-34204800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:34204200-34207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr22:34204200-34207200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:34204200-34208000	Weak transcription	Aorta	Aorta

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