Variant report

Variant	rs5752871
Chromosome Location	chr22:29550628-29550629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29540159..29541896-chr22:29549831..29552578,2	MCF-7	breast:
2	chr22:29448833..29450694-chr22:29548349..29551156,2	K562	blood:
3	chr22:29550189..29551060-chr22:29641253..29641991,3	MCF-7	breast:
4	chr22:29507172..29508987-chr22:29549481..29552085,2	K562	blood:
5	chr22:29476336..29477171-chr22:29550139..29551099,3	MCF-7	breast:
6	chr22:29194920..29197276-chr22:29549664..29552289,2	MCF-7	breast:
7	chr22:29452982..29455388-chr22:29548922..29550730,2	K562	blood:
8	chr22:29507934..29508767-chr22:29550080..29551029,6	MCF-7	breast:
9	chr22:29468709..29469553-chr22:29550141..29550652,2	MCF-7	breast:
10	chr22:29468687..29470195-chr22:29550149..29552502,2	K562	blood:
11	chr22:29548200..29550640-chr22:29663832..29665499,3	K562	blood:
12	chr22:29474405..29475082-chr22:29550138..29550829,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EMID1-4	chr22:29550326-29550757	NONHSAT084673

No data

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000226772	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12628033	0.98[ASN][1000 genomes]
rs12628352	0.98[ASN][1000 genomes]
rs132292	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs132296	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs132300	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs132304	0.84[ASN][1000 genomes]
rs2301445	0.97[ASN][1000 genomes]
rs2301446	0.97[ASN][1000 genomes]
rs2347996	0.97[ASN][1000 genomes]
rs3884934	0.89[ASN][1000 genomes]
rs4035128	0.89[ASN][1000 genomes]
rs469983	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4823016	0.89[ASN][1000 genomes]
rs4823018	0.98[ASN][1000 genomes]
rs5763006	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5997447	0.84[ASN][1000 genomes]
rs9625722	0.89[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 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	chr22:29544800-29550800	Enhancers	Placenta	Placenta
2	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:29545600-29550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:29546800-29551000	Enhancers	Fetal Muscle Leg	muscle
5	chr22:29547000-29551000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:29547400-29551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:29548000-29550800	Enhancers	Spleen	Spleen
8	chr22:29548200-29550800	Enhancers	NHDF-Ad	bronchial
9	chr22:29548400-29550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr22:29548600-29550800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:29548800-29552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29549000-29551000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29549200-29550800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr22:29549400-29551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr22:29549400-29552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:29549400-29552800	Weak transcription	Ovary	ovary
17	chr22:29549600-29551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29549800-29551000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:29550000-29550800	Enhancers	Primary T cells from cord blood	blood
20	chr22:29550000-29550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr22:29550000-29550800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr22:29550000-29550800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr22:29550000-29551000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr22:29550000-29551000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29550000-29551000	Enhancers	Brain Substantia Nigra	brain
26	chr22:29550000-29551000	Enhancers	Fetal Stomach	stomach
27	chr22:29550000-29551000	Enhancers	Fetal Thymus	thymus
28	chr22:29550200-29550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:29550200-29550800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr22:29550200-29550800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr22:29550200-29550800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:29550200-29550800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:29550200-29550800	Enhancers	Brain Angular Gyrus	brain
34	chr22:29550200-29550800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr22:29550200-29550800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr22:29550200-29550800	Enhancers	Fetal Intestine Small	intestine
37	chr22:29550200-29550800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr22:29550200-29550800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr22:29550200-29550800	Active TSS	Hela-S3	cervix
40	chr22:29550200-29551000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr22:29550200-29551000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr22:29550200-29551000	Enhancers	Brain Cingulate Gyrus	brain
43	chr22:29550200-29551000	Enhancers	Brain Germinal Matrix	brain
44	chr22:29550200-29551000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr22:29550200-29551000	Enhancers	Fetal Heart	heart
46	chr22:29550200-29551000	Enhancers	Fetal Kidney	kidney
47	chr22:29550200-29551000	Enhancers	Stomach Mucosa	stomach
48	chr22:29550200-29551000	Enhancers	GM12878-XiMat	blood
49	chr22:29550200-29551000	Enhancers	HMEC	breast
50	chr22:29550400-29550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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