Variant report

Variant	rs5997828
Chromosome Location	chr22:31373707-31373708
allele	A/G
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31373276..31374979-chr22:31479214..31481551,2	MCF-7	breast:
2	chr22:31372163..31374495-chr22:31479554..31481845,2	K562	blood:
3	chr22:31373202..31375614-chr22:31847172..31848695,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBP2-2	chr22:31371156-31374831	ENSG00000253352
2	lnc-OSBP2-2	chr22:31371156-31375337	XLOC_014209
3	lnc-OSBP2-2	chr22:31371156-31375327	XLOC_014209
4	lnc-OSBP2-2	chr22:31371156-31375377	XLOC_014209
5	lnc-OSBP2-2	chr22:31371156-31374831	ENSG00000253352.3
6	lnc-OSBP2-2	chr22:31371199-31375261	NONHSAT084830
7	lnc-OSBP2-2	chr22:31371156-31375381	ENSG00000253352.4
8	lnc-MORC2-1	chr22:31373502-31373723	ENSG00000269972.1

No data

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12158241	1.00[AMR][1000 genomes]
rs12158547	1.00[AMR][1000 genomes]
rs12159387	1.00[AMR][1000 genomes]
rs12160041	1.00[AMR][1000 genomes]
rs12160446	1.00[AMR][1000 genomes]
rs12160486	1.00[AFR][1000 genomes]
rs12160613	1.00[AMR][1000 genomes]
rs12161052	1.00[AMR][1000 genomes]
rs13056417	1.00[AMR][1000 genomes]
rs5994354	1.00[AMR][1000 genomes]
rs5994355	1.00[AMR][1000 genomes]
rs5994359	1.00[AMR][1000 genomes]
rs5994361	1.00[AMR][1000 genomes]
rs5997801	1.00[AMR][1000 genomes]
rs5997804	1.00[AMR][1000 genomes]
rs5997805	1.00[AMR][1000 genomes]
rs5997809	1.00[AMR][1000 genomes]
rs5997813	1.00[AMR][1000 genomes]
rs5997814	1.00[AMR][1000 genomes]
rs5997815	1.00[AMR][1000 genomes]
rs5997816	1.00[AMR][1000 genomes]
rs5997817	1.00[AMR][1000 genomes]
rs5997819	1.00[AMR][1000 genomes]
rs5997825	1.00[AMR][1000 genomes]
rs5997826	1.00[AMR][1000 genomes]
rs5997827	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31365800-31375200	ZNF genes & repeats	Fetal Brain Male	brain
2	chr22:31366200-31375800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31366400-31374000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:31366400-31374200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr22:31366400-31374600	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr22:31366400-31375000	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr22:31366400-31375200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr22:31366400-31376800	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr22:31366600-31374400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:31366600-31375200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:31366600-31376400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr22:31366800-31380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:31367000-31373800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:31367000-31374400	ZNF genes & repeats	A549	lung
15	chr22:31367000-31374800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:31367000-31375200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr22:31367200-31374000	Strong transcription	Osteobl	bone
18	chr22:31367200-31374200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr22:31367200-31376000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:31367400-31373800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr22:31367400-31374800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:31367600-31374200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr22:31367600-31374400	Strong transcription	HSMMtube	muscle
24	chr22:31367600-31374800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr22:31367600-31374800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr22:31367600-31375600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr22:31367600-31376000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr22:31367800-31374600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:31368000-31374600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr22:31368600-31375000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:31369000-31374000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:31371000-31374200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:31371000-31374600	ZNF genes & repeats	HSMM	muscle
34	chr22:31371200-31374800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:31371800-31374200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:31371800-31375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:31371800-31375800	Weak transcription	HepG2	liver
38	chr22:31371800-31376200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:31372000-31374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:31372000-31374800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr22:31372000-31374800	Weak transcription	HUVEC	blood vessel
42	chr22:31372000-31376200	Weak transcription	NH-A	brain
43	chr22:31372400-31374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:31372600-31375400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:31372800-31374400	Weak transcription	Dnd41	blood
46	chr22:31372800-31376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:31373000-31374000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr22:31373000-31374200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr22:31373000-31374200	Weak transcription	Fetal Heart	heart
50	chr22:31373000-31374600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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