Variant report

Variant	rs61741798
Chromosome Location	chr22:30938915-30938916
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	chr22:30830841..30833196-chr22:30936778..30939588,2	K562	blood:

Variant related genes	Relation type
ENSG00000203606	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16988760	1.00[ASN][1000 genomes]
rs5997681	1.00[ASN][1000 genomes]
rs7289242	1.00[ASN][1000 genomes]
rs7289848	1.00[ASN][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30937600-30939000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr22:30937600-30939000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr22:30937800-30939000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr22:30938000-30939000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:30938000-30939000	Enhancers	Fetal Heart	heart
6	chr22:30938000-30939000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr22:30938000-30939400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:30938200-30939000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr22:30938200-30939000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30938200-30939000	Enhancers	Liver	Liver
11	chr22:30938200-30939200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
12	chr22:30938400-30939000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30938400-30939000	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr22:30938400-30939000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr22:30938400-30939200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr22:30938400-30939600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:30938600-30939000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:30938600-30939000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:30938600-30939000	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr22:30938600-30939000	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr22:30938600-30939000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr22:30938600-30939000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30938600-30939000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr22:30938600-30939200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30938600-30939200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr22:30938600-30939200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr22:30938600-30939200	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr22:30938600-30939200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr22:30938600-30939200	Enhancers	Gastric	stomach
30	chr22:30938600-30939200	Flanking Active TSS	Lung	lung
31	chr22:30938600-30939200	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr22:30938600-30939400	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr22:30938800-30939000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr22:30938800-30939000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr22:30938800-30939000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:30938800-30939000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr22:30938800-30939000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr22:30938800-30939000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr22:30938800-30939000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:30938800-30939000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30938800-30939000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:30938800-30939000	Weak transcription	Esophagus	oesophagus
43	chr22:30938800-30939000	Bivalent Enhancer	Fetal Lung	lung
44	chr22:30938800-30939000	Enhancers	Ovary	ovary
45	chr22:30938800-30939000	Enhancers	Pancreas	Pancrea
46	chr22:30938800-30939000	Flanking Active TSS	K562	blood
47	chr22:30938800-30939200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr22:30938800-30939200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:30938800-30939200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:30938800-30939200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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