Variant report

Variant	rs28360657
Chromosome Location	chr22:30827451-30827452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30787227..30787820-chr22:30826584..30827480,2	MCF-7	breast:
2	chr22:30826077..30827909-chr22:30830169..30831773,2	K562	blood:
3	chr22:30827450..30829773-chr22:30832531..30834279,2	K562	blood:
4	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
5	chr22:30681252..30684229-chr22:30827190..30829126,2	K562	blood:

Variant related genes	Relation type
ENSG00000203606	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1076271	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13055431	0.81[AMR][1000 genomes]
rs2299825	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34367123	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753118	0.84[AFR][1000 genomes]
rs5753127	0.81[AMR][1000 genomes]
rs5753138	0.86[AMR][1000 genomes]
rs62228968	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs740084	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][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	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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs28360657	RNF215	cis	Heart Left Ventricle	GTEx
rs28360657	RP1-130H16.16	cis	lung	GTEx
rs28360657	RP1-130H16.16	cis	Thyroid	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
2	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
3	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
5	chr22:30822800-30828200	Weak transcription	Ovary	ovary
6	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
7	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
8	chr22:30823000-30831000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:30823000-30831000	Weak transcription	NH-A	brain
10	chr22:30823000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30823000-30831200	Weak transcription	Fetal Thymus	thymus
12	chr22:30823000-30831600	Weak transcription	Colonic Mucosa	Colon
13	chr22:30823200-30831000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr22:30823200-30831000	Weak transcription	HUVEC	blood vessel
15	chr22:30823200-30831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:30823200-30831600	Weak transcription	Thymus	Thymus
17	chr22:30823200-30831600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
19	chr22:30823400-30828000	Weak transcription	HepG2	liver
20	chr22:30823400-30829600	Weak transcription	HMEC	breast
21	chr22:30823400-30830200	Weak transcription	Lung	lung
22	chr22:30823400-30830800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:30823600-30828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:30823600-30830800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr22:30823800-30830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:30824000-30830600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30824400-30831400	Weak transcription	Placenta	Placenta
28	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
29	chr22:30824600-30829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr22:30824600-30829600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:30824600-30831600	Weak transcription	A549	lung
32	chr22:30824800-30831200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:30824800-30831200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30824800-30831400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:30824800-30834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:30825000-30827600	Weak transcription	Liver	Liver
37	chr22:30825000-30828000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:30825000-30829600	Weak transcription	NHEK	skin
39	chr22:30825000-30830800	Weak transcription	K562	blood
40	chr22:30825000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30825000-30831600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:30825000-30831600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30825200-30828000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:30825200-30829600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:30825200-30831000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:30825200-30831000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:30825200-30831000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:30825200-30831400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:30825200-30831400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr22:30825200-30831400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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