Variant report

Variant	rs4149493
Chromosome Location	chr22:30952014-30952015
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	chr22:30947026..30952194-chr22:30953690..30959543,7	K562	blood:
2	chr22:30949274..30954211-chr22:30954380..30957698,6	K562	blood:

Variant related genes	Relation type
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12166447	1.00[EUR][1000 genomes]
rs12170589	1.00[EUR][1000 genomes]
rs5749124	1.00[EUR][1000 genomes]
rs5753178	1.00[EUR][1000 genomes]
rs5753183	1.00[EUR][1000 genomes]
rs5753194	1.00[EUR][1000 genomes]
rs62226963	1.00[EUR][1000 genomes]
rs6518696	1.00[EUR][1000 genomes]
rs6518697	1.00[EUR][1000 genomes]
rs7289983	1.00[EUR][1000 genomes]
rs8138980	1.00[EUR][1000 genomes]
rs9621016	1.00[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:35 , 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	chr22:30949800-30952400	Strong transcription	Brain Cingulate Gyrus	brain
11	chr22:30950000-30957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:30950200-30952200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:30950200-30953200	Strong transcription	Brain Anterior Caudate	brain
14	chr22:30950200-30954600	Strong transcription	Brain Hippocampus Middle	brain
15	chr22:30950200-30957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:30950600-30956200	Weak transcription	A549	lung
17	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:30950800-30952200	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr22:30950800-30953200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr22:30950800-30953200	Strong transcription	Pancreas	Pancrea
21	chr22:30951000-30952600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr22:30951000-30953200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr22:30951000-30953400	Strong transcription	Brain Substantia Nigra	brain
24	chr22:30951000-30953600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:30951400-30952400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:30951400-30952600	Strong transcription	Ovary	ovary
27	chr22:30951600-30952800	Strong transcription	Fetal Stomach	stomach
28	chr22:30951600-30953800	Strong transcription	Gastric	stomach
29	chr22:30951600-30960200	Weak transcription	Brain Germinal Matrix	brain
30	chr22:30951800-30953000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:30951800-30960200	Weak transcription	Brain Angular Gyrus	brain
32	chr22:30952000-30952400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30952000-30953800	Weak transcription	Aorta	Aorta
34	chr22:30952000-30955600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:30952000-30956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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