Variant report

Variant	rs7285617
Chromosome Location	chr22:31443367-31443368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31440735..31445105-chr22:31479162..31482553,6	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1004243	0.83[CEU][hapmap]
rs11089488	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11703478	0.81[EUR][1000 genomes]
rs12330010	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12484046	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs13054770	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1558023	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2079429	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35657209	0.83[EUR][1000 genomes]
rs35685997	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820934	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284108	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284757	0.95[CEU][hapmap];0.85[AMR][1000 genomes]
rs737930	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8135353	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9619163	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9621173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621178	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9621184	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9621185	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31440200-31443400	Enhancers	Fetal Muscle Leg	muscle
4	chr22:31440200-31443400	Enhancers	Right Ventricle	heart
5	chr22:31440200-31443400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:31440200-31443600	Enhancers	Ovary	ovary
7	chr22:31440200-31443800	Enhancers	Left Ventricle	heart
8	chr22:31440200-31447400	Enhancers	Adipose Nuclei	Adipose
9	chr22:31440600-31451000	Weak transcription	Osteobl	bone
10	chr22:31441400-31443800	Enhancers	Spleen	Spleen
11	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
12	chr22:31441800-31443400	Enhancers	Fetal Lung	lung
13	chr22:31442000-31443600	Enhancers	Right Atrium	heart
14	chr22:31442000-31443600	Enhancers	K562	blood
15	chr22:31442200-31443400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:31442200-31443400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:31442200-31443400	Enhancers	Placenta	Placenta
18	chr22:31442200-31443600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:31442400-31443400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:31442800-31443600	Enhancers	Brain Angular Gyrus	brain
21	chr22:31442800-31443600	Enhancers	Lung	lung
22	chr22:31442800-31443600	Enhancers	HepG2	liver
23	chr22:31442800-31443600	Enhancers	HUVEC	blood vessel
24	chr22:31442800-31444600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31443000-31443600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:31443000-31444400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:31443000-31445800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:31443000-31449800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
33	chr22:31443000-31451000	Weak transcription	A549	lung
34	chr22:31443200-31443400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:31443200-31444600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:31443200-31444800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix

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