Variant report

Variant	rs56225631
Chromosome Location	chr22:30675965-30675966
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	chr22:30669034..30671997-chr22:30675026..30677407,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73881432	1.00[AMR][1000 genomes]
rs73881433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881434	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS 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
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	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
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30669400-30676800	Enhancers	Adipose Nuclei	Adipose
2	chr22:30672200-30676400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr22:30672600-30678400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:30672600-30684400	Weak transcription	Fetal Brain Female	brain
5	chr22:30672800-30678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr22:30673000-30676000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30673000-30676000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:30673000-30676000	Enhancers	HMEC	breast
9	chr22:30673000-30676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:30673200-30676000	Enhancers	Liver	Liver
11	chr22:30673200-30676400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:30673200-30676400	Enhancers	Dnd41	blood
13	chr22:30673200-30678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr22:30673400-30676800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30673400-30677000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30673600-30676000	Enhancers	Brain Substantia Nigra	brain
17	chr22:30673600-30676200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:30673600-30676200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:30673600-30676400	Enhancers	Placenta	Placenta
20	chr22:30673800-30676000	Enhancers	Brain Hippocampus Middle	brain
21	chr22:30673800-30676000	Enhancers	Spleen	Spleen
22	chr22:30673800-30676000	Enhancers	NHDF-Ad	bronchial
23	chr22:30674000-30676000	Enhancers	Esophagus	oesophagus
24	chr22:30674000-30676000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr22:30674000-30676000	Enhancers	NHLF	lung
26	chr22:30674000-30678800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30674000-30680400	Weak transcription	A549	lung
28	chr22:30674200-30676000	Enhancers	HUVEC	blood vessel
29	chr22:30674200-30676200	Enhancers	Lung	lung
30	chr22:30674200-30679200	Weak transcription	K562	blood
31	chr22:30674200-30679400	Weak transcription	Ovary	ovary
32	chr22:30674400-30676000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr22:30674400-30676400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:30674400-30678000	Weak transcription	Fetal Stomach	stomach
35	chr22:30674400-30678400	Weak transcription	Fetal Thymus	thymus
36	chr22:30674400-30680200	Weak transcription	Right Ventricle	heart
37	chr22:30674400-30680800	Weak transcription	Fetal Lung	lung
38	chr22:30674400-30681200	Weak transcription	Aorta	Aorta
39	chr22:30674400-30681200	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:30674400-30681200	Weak transcription	Left Ventricle	heart
41	chr22:30674400-30684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:30674400-30684000	Weak transcription	NHEK	skin
43	chr22:30674400-30684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:30674400-30684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:30674400-30684200	Weak transcription	Brain Germinal Matrix	brain
46	chr22:30674400-30684200	Weak transcription	Right Atrium	heart
47	chr22:30674600-30676000	Enhancers	Duodenum Mucosa	Duodenum
48	chr22:30674600-30676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:30674600-30676800	Enhancers	HSMM	muscle
50	chr22:30674600-30678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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