Variant report

Variant	rs4320024
Chromosome Location	chr22:30709191-30709192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30706784..30711096-chr22:30720189..30724317,4	K562	blood:
2	chr22:30692603..30694692-chr22:30708843..30711257,2	K562	blood:
3	chr22:30684159..30687302-chr22:30706702..30709797,3	MCF-7	breast:
4	chr22:30703263..30705147-chr22:30708532..30711289,2	K562	blood:
5	chr22:30705519..30709851-chr22:30719624..30722955,4	MCF-7	breast:
6	chr22:30700419..30704978-chr22:30706573..30709659,6	MCF-7	breast:
7	chr22:30698074..30701830-chr22:30707671..30711358,4	K562	blood:

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1076296	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56094301	0.82[EUR][1000 genomes]
rs56325714	0.84[EUR][1000 genomes]
rs5753118	0.87[AMR][1000 genomes]
rs57908818	0.91[AMR][1000 genomes]
rs60111450	0.91[AMR][1000 genomes]
rs62227732	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs877549	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
4	chr22:30699800-30710000	Weak transcription	HepG2	liver
5	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
6	chr22:30700000-30710000	Enhancers	HMEC	breast
7	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
9	chr22:30700400-30710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:30700600-30711200	Enhancers	Placenta	Placenta
12	chr22:30701400-30709200	Enhancers	Fetal Kidney	kidney
13	chr22:30702800-30709200	Enhancers	Right Atrium	heart
14	chr22:30702800-30709400	Enhancers	Pancreas	Pancrea
15	chr22:30702800-30710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
17	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:30702800-30714800	Enhancers	Spleen	Spleen
20	chr22:30703000-30709800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:30703200-30709400	Enhancers	Esophagus	oesophagus
22	chr22:30703200-30710400	Enhancers	Primary B cells from peripheral blood	blood
23	chr22:30703200-30711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30703400-30710000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:30703400-30710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:30703600-30710000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr22:30703600-30710400	Enhancers	Primary B cells from cord blood	blood
28	chr22:30704200-30709200	Enhancers	NHLF	lung
29	chr22:30704200-30709400	Enhancers	Gastric	stomach
30	chr22:30704200-30709400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:30704600-30709200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:30704600-30709200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:30704600-30709400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:30704600-30709600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr22:30704800-30709400	Enhancers	Brain Anterior Caudate	brain
36	chr22:30704800-30711200	Enhancers	Small Intestine	intestine
37	chr22:30705000-30720400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:30705600-30709400	Enhancers	Ovary	ovary
39	chr22:30705800-30709200	Enhancers	Brain Angular Gyrus	brain
40	chr22:30705800-30710400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr22:30705800-30711200	Enhancers	Brain Substantia Nigra	brain
42	chr22:30706000-30710000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:30706000-30713400	Enhancers	Liver	Liver
44	chr22:30706000-30719400	Genic enhancers	Dnd41	blood
45	chr22:30706200-30710000	Enhancers	Osteobl	bone
46	chr22:30706200-30720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:30706400-30709200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr22:30706400-30709400	Enhancers	Fetal Muscle Leg	muscle
49	chr22:30706400-30713000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr22:30706400-30715400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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