Variant report

Variant	rs447336
Chromosome Location	chr22:34178318-34178319
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs110689	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13056817	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs173237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs238857	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs238859	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs238862	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs238863	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2413200	0.81[EUR][1000 genomes]
rs2413201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2899213	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs379239	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385486	0.90[ASN][1000 genomes]
rs412701	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs415551	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs419898	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs424784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs444993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454398	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481698	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4820118	1.00[CHB][hapmap]
rs4821187	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs493192	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs496956	1.00[CHB][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749668	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]
rs5749674	0.82[AFR][1000 genomes]
rs5754676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs5999109	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs722659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs738942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs867124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv529885	chr22:34150132-34182300	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	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
14	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
15	esv2758542	chr22:34169795-34203479	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2758833	chr22:34169795-34203479	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
2	chr22:34170000-34181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34173000-34178400	Enhancers	Fetal Intestine Small	intestine
4	chr22:34174000-34178400	Enhancers	Stomach Mucosa	stomach
5	chr22:34175000-34178400	Enhancers	Fetal Lung	lung
6	chr22:34175800-34178400	Enhancers	Fetal Stomach	stomach
7	chr22:34175800-34178400	Enhancers	Stomach Smooth Muscle	stomach
8	chr22:34176000-34178400	Enhancers	Colon Smooth Muscle	Colon
9	chr22:34176000-34178400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr22:34176200-34185000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:34176600-34180400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:34176600-34182000	Weak transcription	Right Ventricle	heart
13	chr22:34176600-34184000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:34176600-34185000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:34176800-34181400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:34177000-34204600	Weak transcription	Gastric	stomach
17	chr22:34177200-34178400	Enhancers	Ovary	ovary
18	chr22:34177200-34179800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:34177200-34181400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:34177600-34178400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:34177600-34178400	Enhancers	Right Atrium	heart
22	chr22:34177800-34181600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:34177800-34185000	Weak transcription	Left Ventricle	heart
24	chr22:34178000-34178400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr22:34178000-34179000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:34178000-34179200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr22:34178200-34178400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr22:34178200-34178400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:34178200-34178400	Enhancers	Psoas Muscle	Psoas
30	chr22:34178200-34179800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr22:34178200-34180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:34178200-34181400	Weak transcription	Liver	Liver
33	chr22:34178200-34181600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:34178200-34181600	Weak transcription	NHDF-Ad	bronchial
35	chr22:34178200-34183600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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