Variant report

Variant	rs5749209
Chromosome Location	chr22:31447006-31447007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31437736..31441147-chr22:31443914..31447179,4	K562	blood:
2	chr22:31363146..31365916-chr22:31446912..31449134,2	MCF-7	breast:
3	chr22:31445377..31447360-chr22:31483123..31485957,2	MCF-7	breast:
4	chr22:31445325..31447022-chr22:31475452..31477796,2	MCF-7	breast:
5	chr22:31445856..31448467-chr22:31451849..31454142,3	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs5749210	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753433	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753434	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753435	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753436	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753438	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5994365	0.95[EUR][1000 genomes]
rs7287178	0.83[ASN][1000 genomes]
rs7290780	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7291565	0.88[EUR][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	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	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31440200-31447400	Enhancers	Adipose Nuclei	Adipose
3	chr22:31440600-31451000	Weak transcription	Osteobl	bone
4	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
5	chr22:31443000-31449800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:31443000-31451000	Weak transcription	A549	lung
11	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
14	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
15	chr22:31443600-31451000	Weak transcription	Ovary	ovary
16	chr22:31443600-31455400	Weak transcription	K562	blood
17	chr22:31444600-31447400	Enhancers	Fetal Muscle Leg	muscle
18	chr22:31445000-31451000	Weak transcription	Right Atrium	heart
19	chr22:31445200-31447200	Enhancers	Placenta	Placenta
20	chr22:31446200-31448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:31446200-31449800	Weak transcription	Fetal Lung	lung
22	chr22:31446200-31450200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:31446200-31450800	Weak transcription	Lung	lung
24	chr22:31446400-31450000	Weak transcription	HepG2	liver
25	chr22:31446400-31451000	Weak transcription	HUVEC	blood vessel
26	chr22:31446600-31451800	Weak transcription	Spleen	Spleen
27	chr22:31447000-31447200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr22:31447000-31450000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr22:31447000-31450200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:31447000-31450200	Weak transcription	Left Ventricle	heart
31	chr22:31447000-31450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:31447000-31451200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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