Variant report

Variant	rs55674628
Chromosome Location	chr22:30953280-30953281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30949274..30954211-chr22:30954380..30957698,6	K562	blood:

Variant related genes	Relation type
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10428025	0.87[EUR][1000 genomes]
rs11914198	0.91[EUR][1000 genomes]
rs12170920	0.87[EUR][1000 genomes]
rs56173866	0.91[EUR][1000 genomes]
rs5749115	0.87[EUR][1000 genomes]
rs5749117	0.87[EUR][1000 genomes]
rs5753180	0.87[EUR][1000 genomes]
rs5753181	0.87[EUR][1000 genomes]
rs59571413	0.84[EUR][1000 genomes]
rs5997679	0.91[EUR][1000 genomes]
rs5997681	0.91[EUR][1000 genomes]
rs60874034	0.87[EUR][1000 genomes]
rs61062709	0.91[EUR][1000 genomes]
rs61154368	0.87[EUR][1000 genomes]
rs61739203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61742115	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61744139	0.87[EUR][1000 genomes]
rs61746412	0.87[EUR][1000 genomes]
rs7286285	0.92[EUR][1000 genomes]
rs7286703	0.83[EUR][1000 genomes]
rs7287647	0.91[EUR][1000 genomes]
rs7289242	0.91[EUR][1000 genomes]
rs7289280	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7289848	0.87[EUR][1000 genomes]
rs7290074	0.91[EUR][1000 genomes]
rs7292475	0.91[EUR][1000 genomes]
rs73394239	0.91[EUR][1000 genomes]
rs8135119	0.83[EUR][1000 genomes]
rs8135296	0.91[EUR][1000 genomes]
rs8138975	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30962000	Weak transcription	Liver	Liver
2	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30945800-30957400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30946200-30957600	Weak transcription	Spleen	Spleen
5	chr22:30946400-30955600	Weak transcription	HepG2	liver
6	chr22:30947800-30957600	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30949000-30954800	Strong transcription	Fetal Intestine Small	intestine
9	chr22:30949600-30956800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:30950000-30957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:30950200-30954600	Strong transcription	Brain Hippocampus Middle	brain
12	chr22:30950200-30957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:30950600-30956200	Weak transcription	A549	lung
14	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:30951000-30953400	Strong transcription	Brain Substantia Nigra	brain
16	chr22:30951000-30953600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:30951600-30953800	Strong transcription	Gastric	stomach
18	chr22:30951600-30960200	Weak transcription	Brain Germinal Matrix	brain
19	chr22:30951800-30960200	Weak transcription	Brain Angular Gyrus	brain
20	chr22:30952000-30953800	Weak transcription	Aorta	Aorta
21	chr22:30952000-30955600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:30952000-30956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:30952200-30953600	Strong transcription	Fetal Intestine Large	intestine
24	chr22:30952200-30960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:30952400-30960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:30952600-30955000	Weak transcription	Ovary	ovary
27	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:30952800-30953400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr22:30953000-30954800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:30953200-30957400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:30953200-30957400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:30953200-30958600	Weak transcription	Pancreas	Pancrea
33	chr22:30953200-30960000	Weak transcription	Brain Anterior Caudate	brain

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