Variant report

Variant	rs62236122
Chromosome Location	chr22:31473875-31473876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31473811-31474035	HepG2	liver:	n/a	n/a
2	ZNF217	chr22:31473766-31474031	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
SMTN	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11913100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16989281	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2286214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28412926	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28461534	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41282559	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56095120	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56169845	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61529391	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236113	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236114	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236115	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236119	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236120	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7284985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
4	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
5	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
6	chr22:31472000-31476400	Weak transcription	HSMMtube	muscle
7	chr22:31472200-31474200	Weak transcription	Osteobl	bone
8	chr22:31472200-31475400	Weak transcription	Lung	lung
9	chr22:31472200-31476200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:31472200-31476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:31472400-31474200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:31472400-31474200	Weak transcription	HSMM	muscle
13	chr22:31472400-31474200	Weak transcription	NHEK	skin
14	chr22:31472400-31474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:31472400-31474400	Weak transcription	Stomach Mucosa	stomach
16	chr22:31472400-31475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31472400-31475000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:31472400-31475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:31472400-31476400	Weak transcription	Ovary	ovary
20	chr22:31472400-31476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31472400-31476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:31472400-31476600	Weak transcription	Psoas Muscle	Psoas
23	chr22:31472600-31474200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31472600-31474200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:31472600-31474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31472600-31474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31472600-31474200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:31472600-31474200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:31472600-31475000	Weak transcription	Colonic Mucosa	Colon
30	chr22:31472600-31476200	Weak transcription	Fetal Lung	lung
31	chr22:31472600-31476400	Weak transcription	Adipose Nuclei	Adipose
32	chr22:31472600-31476400	Weak transcription	Right Ventricle	heart
33	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:31472600-31476400	Weak transcription	NHDF-Ad	bronchial
36	chr22:31472600-31476600	Weak transcription	Right Atrium	heart
37	chr22:31472600-31476600	Weak transcription	NHLF	lung
38	chr22:31473000-31474200	Weak transcription	Fetal Stomach	stomach
39	chr22:31473600-31474000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:31473600-31474000	Enhancers	Pancreas	Pancrea
41	chr22:31473600-31476400	Enhancers	Fetal Intestine Large	intestine
42	chr22:31473800-31474000	Enhancers	Esophagus	oesophagus
43	chr22:31473800-31474200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31473800-31474600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:31473800-31475400	Enhancers	Placenta	Placenta
46	chr22:31473800-31476400	Enhancers	Fetal Intestine Small	intestine
47	chr22:31473800-31476400	Enhancers	Rectal Mucosa Donor 31	rectum

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