Variant report

Variant	rs238863
Chromosome Location	chr22:34164768-34164769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs110689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2018743	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2227023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs238857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs238859	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs238862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413201	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs28374	1.00[CHB][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35458107	0.86[EUR][1000 genomes]
rs379239	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs415551	0.95[ASN][1000 genomes]
rs419898	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs424576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs424784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs444993	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs447336	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs454398	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs481698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820118	1.00[CHB][hapmap]
rs4821187	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs482567	0.87[EUR][1000 genomes]
rs493192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496956	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs5749665	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5749668	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5749674	0.82[EUR][1000 genomes]
rs5754676	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5754679	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5754682	1.00[CHB][hapmap]
rs5754698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs722659	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs738942	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs867124	1.00[CHB][hapmap];0.82[JPT][hapmap]

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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
4	chr22:34147400-34168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:34149200-34167000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:34151800-34167000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:34153200-34164800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:34153400-34169000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:34154200-34169600	Weak transcription	Psoas Muscle	Psoas
10	chr22:34154400-34165200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:34154400-34166400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:34154400-34167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:34154400-34171000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
15	chr22:34154400-34176000	Weak transcription	Gastric	stomach
16	chr22:34154800-34167200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:34155000-34164800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:34155000-34164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:34156600-34164800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:34162600-34165600	Weak transcription	Left Ventricle	heart
21	chr22:34162600-34172600	Weak transcription	Lung	lung
22	chr22:34163800-34166000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr22:34163800-34167200	Enhancers	Fetal Heart	heart
24	chr22:34164400-34165400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:34164600-34165000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:34164600-34165400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:34164600-34165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr22:34164600-34165800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr22:34164600-34166000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr22:34164600-34167200	Weak transcription	Right Ventricle	heart

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