Variant report

Variant	rs5753487
Chromosome Location	chr22:31558891-31558892
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	chr22:31558869-31558927	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31557219..31558911-chr22:31606404..31608667,2	MCF-7	breast:

Variant related genes	Relation type
MIR3928	TF binding region
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12106582	0.91[ASN][1000 genomes]
rs12627805	0.87[ASN][1000 genomes]
rs12627941	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2072193	1.00[AFR][1000 genomes]
rs2074735	1.00[AFR][1000 genomes]
rs2267169	1.00[AFR][1000 genomes]
rs2267170	1.00[AFR][1000 genomes]
rs2283880	0.80[ASN][1000 genomes]
rs28709894	0.91[ASN][1000 genomes]
rs4561750	0.91[ASN][1000 genomes]
rs4645077	0.88[ASN][1000 genomes]
rs4820949	0.90[ASN][1000 genomes]
rs4820952	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4820964	0.80[AMR][1000 genomes]
rs55737363	0.91[ASN][1000 genomes]
rs5749226	0.91[ASN][1000 genomes]
rs5749254	0.80[AMR][1000 genomes]
rs5753488	0.85[ASN][1000 genomes]
rs5753499	0.86[ASN][1000 genomes]
rs5753501	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62237396	0.91[ASN][1000 genomes]
rs62237398	0.91[ASN][1000 genomes]
rs62237399	0.91[ASN][1000 genomes]
rs62237400	0.91[ASN][1000 genomes]
rs72617294	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72617295	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72617298	0.80[AMR][1000 genomes]
rs886074	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31555600-31559400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr22:31557000-31559200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
6	chr22:31557200-31561400	Weak transcription	Fetal Thymus	thymus
7	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:31557400-31559200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:31557400-31559200	Weak transcription	Pancreas	Pancrea
12	chr22:31557400-31559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31557400-31559600	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr22:31557400-31561400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:31557400-31561600	Weak transcription	Lung	lung
16	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
18	chr22:31557400-31569200	Weak transcription	A549	lung
19	chr22:31557400-31575000	Weak transcription	Gastric	stomach
20	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:31557600-31559000	Enhancers	HSMM	muscle
24	chr22:31557600-31559200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31557600-31559400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:31557600-31559600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr22:31557600-31561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:31557600-31561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart
30	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
31	chr22:31557600-31578600	Weak transcription	K562	blood
32	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:31557800-31559400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:31557800-31559400	Enhancers	Adipose Nuclei	Adipose
35	chr22:31557800-31560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31557800-31561400	Weak transcription	Fetal Brain Female	brain
37	chr22:31557800-31561400	Weak transcription	GM12878-XiMat	blood
38	chr22:31557800-31564000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:31557800-31564200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
41	chr22:31557800-31569400	Weak transcription	Ovary	ovary
42	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:31558000-31559200	Weak transcription	Left Ventricle	heart
45	chr22:31558000-31560400	Weak transcription	Fetal Intestine Large	intestine
46	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:31558200-31559200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:31558200-31559200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr22:31558200-31559200	Weak transcription	Fetal Stomach	stomach
50	chr22:31558200-31559200	Weak transcription	Psoas Muscle	Psoas

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