Variant report

Variant	rs57618117
Chromosome Location	chr22:30304057-30304058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
4	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34305723	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286437	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883307	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73883356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8142666	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
4	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr22:30299800-30308400	Weak transcription	Lung	lung
10	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
11	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:30302000-30304400	Enhancers	Right Ventricle	heart
13	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:30302200-30308400	Weak transcription	Gastric	stomach
15	chr22:30302600-30304200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:30302800-30304600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:30302800-30305200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:30303000-30304400	Enhancers	Psoas Muscle	Psoas
19	chr22:30303000-30304600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr22:30303000-30304600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr22:30303000-30304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:30303000-30304800	Enhancers	Fetal Heart	heart
23	chr22:30303000-30305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:30303000-30305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:30303200-30304400	Enhancers	Liver	Liver
26	chr22:30303200-30304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:30303200-30304600	Enhancers	Fetal Muscle Leg	muscle
28	chr22:30303200-30304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30303200-30304800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:30303200-30305200	Enhancers	Ovary	ovary
31	chr22:30303200-30305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:30303400-30304200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:30303400-30304200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr22:30303400-30304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30303400-30304400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr22:30303400-30304400	Enhancers	Brain Hippocampus Middle	brain
37	chr22:30303400-30304400	Enhancers	Rectal Smooth Muscle	rectum
38	chr22:30303400-30304400	Enhancers	NHDF-Ad	bronchial
39	chr22:30303400-30304600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr22:30303400-30304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:30303400-30304600	Enhancers	Adipose Nuclei	Adipose
42	chr22:30303400-30304600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr22:30303400-30304600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr22:30303400-30304600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr22:30303400-30304600	Enhancers	HepG2	liver
46	chr22:30303400-30304600	Enhancers	HSMMtube	muscle
47	chr22:30303400-30304600	Enhancers	HUVEC	blood vessel
48	chr22:30303400-30304800	Enhancers	Brain Substantia Nigra	brain
49	chr22:30303400-30304800	Enhancers	Fetal Lung	lung
50	chr22:30303400-30304800	Enhancers	HMEC	breast

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