Variant report

Variant	rs11704373
Chromosome Location	chr22:31449984-31449985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31449984..31454484-chr22:31456787..31462654,7	K562	blood:
2	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:
3	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
4	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:
5	chr22:31368025..31371169-chr22:31447828..31451638,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273387	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11702887	0.92[AMR][1000 genomes]
rs11703298	0.84[AMR][1000 genomes]
rs11703938	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11703987	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11704428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704577	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704692	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11704852	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704901	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704907	0.84[AMR][1000 genomes]
rs11704918	0.84[AMR][1000 genomes]
rs11705035	0.84[AMR][1000 genomes]
rs11705054	0.84[AMR][1000 genomes]
rs11705064	0.84[AMR][1000 genomes]
rs35262879	1.00[AFR][1000 genomes]
rs35541583	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73406153	1.00[AMR][1000 genomes];0.93[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31440600-31451000	Weak transcription	Osteobl	bone
3	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
4	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:31443000-31451000	Weak transcription	A549	lung
9	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
12	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
13	chr22:31443600-31451000	Weak transcription	Ovary	ovary
14	chr22:31443600-31455400	Weak transcription	K562	blood
15	chr22:31445000-31451000	Weak transcription	Right Atrium	heart
16	chr22:31446200-31450200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:31446200-31450800	Weak transcription	Lung	lung
18	chr22:31446400-31450000	Weak transcription	HepG2	liver
19	chr22:31446400-31451000	Weak transcription	HUVEC	blood vessel
20	chr22:31446600-31451800	Weak transcription	Spleen	Spleen
21	chr22:31447000-31450000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:31447000-31450200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:31447000-31450200	Weak transcription	Left Ventricle	heart
24	chr22:31447000-31450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:31447000-31451200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:31447200-31450800	Weak transcription	Placenta	Placenta
27	chr22:31447200-31451400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:31447400-31450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:31447400-31451000	Weak transcription	Adipose Nuclei	Adipose
30	chr22:31449000-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:31449200-31450800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:31449200-31451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:31449200-31451000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr22:31449200-31451200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:31449200-31453400	Enhancers	Fetal Muscle Leg	muscle
36	chr22:31449400-31451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:31449400-31451000	Weak transcription	HMEC	breast
38	chr22:31449600-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:31449800-31450000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr22:31449800-31450000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr22:31449800-31450000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:31449800-31450000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr22:31449800-31450000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:31449800-31450000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:31449800-31451000	Weak transcription	NHEK	skin
46	chr22:31449800-31453200	Enhancers	Fetal Lung	lung

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