Variant report

Variant	rs5994359
Chromosome Location	chr22:31371935-31371936
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:2)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
2	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBP2-2	chr22:31371156-31372049	ENSG00000253352
2	lnc-OSBP2-2	chr22:31371156-31374831	ENSG00000253352
3	lnc-OSBP2-2	chr22:31371156-31375337	XLOC_014209
4	lnc-OSBP2-2	chr22:31371156-31375327	XLOC_014209
5	lnc-OSBP2-2	chr22:31371156-31375377	XLOC_014209
6	lnc-OSBP2-2	chr22:31371156-31374831	ENSG00000253352.3
7	lnc-OSBP2-2	chr22:31371156-31372049	ENSG00000253352.3
8	lnc-OSBP2-2	chr22:31371199-31375261	NONHSAT084830
9	lnc-OSBP2-2	chr22:31371156-31375381	ENSG00000253352.4
10	lnc-OSBP2-2	chr22:31371156-31371991	NONHSAT084834
11	lnc-OSBP2-2	chr22:31371156-31372049	ENSG00000253352.4
12	lnc-OSBP2-2	chr22:31371156-31372067	ENSG00000253352.4

No data

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12158241	1.00[AMR][1000 genomes]
rs12158547	1.00[AMR][1000 genomes]
rs12159317	1.00[AFR][1000 genomes]
rs12159387	1.00[AMR][1000 genomes]
rs12160041	1.00[AMR][1000 genomes]
rs12160446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160613	1.00[AMR][1000 genomes]
rs12161052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13056417	1.00[AMR][1000 genomes]
rs16989281	1.00[MEX][hapmap]
rs5994354	1.00[AMR][1000 genomes]
rs5994355	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[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs5997814	1.00[LWK][hapmap];1.00[MEX][hapmap];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997828	1.00[AMR][1000 genomes]
rs5997829	1.00[AFR][1000 genomes]
rs5997831	1.00[AFR][1000 genomes]
rs5997834	1.00[AFR][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:94 , 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	chr22:31366000-31373000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr22:31366000-31373400	ZNF genes & repeats	Fetal Muscle Leg	muscle
4	chr22:31366200-31372600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
5	chr22:31366200-31373400	ZNF genes & repeats	Fetal Lung	lung
6	chr22:31366200-31375800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31366400-31372800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:31366400-31373200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr22:31366400-31374000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:31366400-31374200	ZNF genes & repeats	GM12878-XiMat	blood
11	chr22:31366400-31374600	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr22:31366400-31375000	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr22:31366400-31375200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr22:31366400-31376800	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr22:31366600-31372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr22:31366600-31372000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:31366600-31372200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr22:31366600-31372600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr22:31366600-31374400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31366600-31375200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:31366600-31376400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr22:31366800-31372200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr22:31366800-31373000	ZNF genes & repeats	Fetal Kidney	kidney
24	chr22:31366800-31380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:31367000-31372000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr22:31367000-31372600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr22:31367000-31373800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:31367000-31374400	ZNF genes & repeats	A549	lung
29	chr22:31367000-31374800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:31367000-31375200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr22:31367200-31372000	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr22:31367200-31372800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr22:31367200-31373400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr22:31367200-31374000	Strong transcription	Osteobl	bone
35	chr22:31367200-31374200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr22:31367200-31376000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
37	chr22:31367400-31372200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr22:31367400-31372400	ZNF genes & repeats	Thymus	Thymus
39	chr22:31367400-31372800	ZNF genes & repeats	NHEK	skin
40	chr22:31367400-31373800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr22:31367400-31374800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:31367600-31372000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:31367600-31374200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr22:31367600-31374400	Strong transcription	HSMMtube	muscle
45	chr22:31367600-31374800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr22:31367600-31374800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr22:31367600-31375600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr22:31367600-31376000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr22:31367800-31372000	Strong transcription	HUVEC	blood vessel
50	chr22:31367800-31372600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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