Variant report

Variant	rs73158533
Chromosome Location	chr22:31628251-31628252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31627806..31629543-chr22:31645486..31647563,2	MCF-7	breast:
2	chr22:31626760..31629463-chr22:31643016..31645359,2	MCF-7	breast:
3	chr22:31501659..31503916-chr22:31627091..31628996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198832	Chromatin interaction
ENSG00000182541	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11703847	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705159	1.00[AFR][1000 genomes]
rs16989459	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59473370	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158567	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73158578	0.86[AMR][1000 genomes]
rs73158585	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73392229	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:31609800-31629400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31615200-31629000	Weak transcription	NH-A	brain
6	chr22:31620200-31637200	Weak transcription	HSMM	muscle
7	chr22:31620800-31630000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:31621600-31629600	Genic enhancers	Fetal Intestine Small	intestine
9	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
10	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:31623800-31632800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr22:31624600-31630000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:31624800-31630000	Enhancers	Placenta	Placenta
14	chr22:31625000-31629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:31625200-31628400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:31625400-31629200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:31625800-31629200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:31625800-31636000	Weak transcription	Ovary	ovary
20	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:31625800-31637000	Weak transcription	HMEC	breast
22	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
23	chr22:31626000-31628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:31626000-31629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:31626000-31629000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:31626000-31629000	Weak transcription	NHEK	skin
27	chr22:31626000-31637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:31626000-31637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:31626400-31629000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:31626400-31629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:31626400-31629000	Weak transcription	Thymus	Thymus
32	chr22:31626400-31630800	Enhancers	HUVEC	blood vessel
33	chr22:31626400-31635000	Weak transcription	Gastric	stomach
34	chr22:31626600-31628600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:31626600-31631000	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:31626600-31632400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
38	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
39	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
40	chr22:31626800-31628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:31626800-31629800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:31627000-31629000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:31627000-31629200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:31627000-31631000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:31627000-31637000	Weak transcription	NHLF	lung
47	chr22:31627200-31628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:31627200-31629000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:31627200-31629400	Enhancers	Stomach Mucosa	stomach
50	chr22:31627200-31629800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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