Variant report

Variant	rs412701
Chromosome Location	chr22:34175587-34175588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13056817	0.91[AMR][1000 genomes]
rs173237	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2018743	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs238859	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs238862	0.82[AMR][1000 genomes]
rs2413201	0.90[AMR][1000 genomes]
rs28374	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899213	0.88[AMR][1000 genomes]
rs379239	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs419898	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs424576	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs424784	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs444993	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs447336	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs454398	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs496956	0.83[EUR][1000 genomes]
rs5749665	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749668	0.88[AMR][1000 genomes]
rs5754676	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5754679	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5754682	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5999109	0.81[AMR][1000 genomes]
rs722659	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs738942	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs867124	0.92[AMR][1000 genomes];0.82[EUR][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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
2	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
3	chr22:34154400-34176000	Weak transcription	Gastric	stomach
4	chr22:34165400-34176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:34166000-34176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:34166800-34175800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:34167800-34176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
9	chr22:34169000-34176000	Weak transcription	Fetal Muscle Leg	muscle
10	chr22:34169400-34177600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:34169800-34176200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:34170000-34181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:34171400-34176000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:34171600-34176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:34172200-34176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34172800-34178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:34172800-34178200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:34173000-34176000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:34173000-34176000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:34173000-34177600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:34173000-34178400	Enhancers	Fetal Intestine Small	intestine
22	chr22:34173200-34177400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:34173400-34177000	Weak transcription	NHDF-Ad	bronchial
24	chr22:34174000-34176000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:34174000-34176000	Weak transcription	Pancreas	Pancrea
26	chr22:34174000-34176800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:34174000-34177800	Enhancers	Fetal Intestine Large	intestine
28	chr22:34174000-34178200	Weak transcription	Psoas Muscle	Psoas
29	chr22:34174000-34178400	Enhancers	Stomach Mucosa	stomach
30	chr22:34174200-34175800	Weak transcription	Right Ventricle	heart
31	chr22:34174600-34175800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:34174600-34176400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:34174600-34176800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:34174600-34176800	Weak transcription	HepG2	liver
35	chr22:34174600-34177200	Weak transcription	Ovary	ovary
36	chr22:34174800-34176000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr22:34175000-34178400	Enhancers	Fetal Lung	lung
38	chr22:34175200-34177800	Enhancers	Left Ventricle	heart
39	chr22:34175400-34176000	Weak transcription	Lung	lung
40	chr22:34175400-34176400	Enhancers	Right Atrium	heart

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