Variant report

Variant	rs238865
Chromosome Location	chr22:34169292-34169293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs238864	0.85[YRI][hapmap]
rs453075	0.85[YRI][hapmap]
rs5754677	0.85[YRI][hapmap]
rs666775	0.86[ASW][hapmap];0.92[YRI][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs238865	LARGE	cis	parietal	SCAN

Chromatin state (count:37 , 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	chr22:34154200-34169600	Weak transcription	Psoas Muscle	Psoas
4	chr22:34154400-34171000	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
6	chr22:34154400-34176000	Weak transcription	Gastric	stomach
7	chr22:34162600-34172600	Weak transcription	Lung	lung
8	chr22:34165000-34169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:34165400-34169400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:34165400-34171000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:34165400-34176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:34165600-34169800	Enhancers	Left Ventricle	heart
13	chr22:34165600-34172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:34165800-34172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:34166000-34171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:34166000-34172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr22:34166000-34176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:34166800-34175800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:34167000-34171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:34167200-34169600	Enhancers	Right Ventricle	heart
21	chr22:34167600-34169400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:34167600-34172200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:34167800-34169400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:34167800-34169600	Weak transcription	Brain Anterior Caudate	brain
25	chr22:34167800-34176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:34168000-34170800	Weak transcription	Right Atrium	heart
27	chr22:34168000-34171000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:34168000-34173000	Weak transcription	Pancreas	Pancrea
29	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
30	chr22:34169000-34169400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:34169000-34169400	Enhancers	Fetal Brain Female	brain
32	chr22:34169000-34169600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:34169000-34170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:34169000-34170200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:34169000-34176000	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:34169200-34169400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:34169200-34172400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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