Variant report

Variant	rs5997826
Chromosome Location	chr22:31366929-31366930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr22:31366051-31368128	HEK293	kidney:	n/a	n/a
3	POLR2A	chr22:31364371-31367023	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:31364540-31367162	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:31363643-31367487	HepG2	liver:	n/a	n/a
6	SETDB1	chr22:31365847-31370102	U2OS	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31365932..31368594-chr6:30687396..30689377,2	K562	blood:
2	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
3	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
4	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
5	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
6	chr22:31364481..31367281-chr22:31457492..31460562,3	MCF-7	breast:
7	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBP2-2	chr22:31366663-31367765	ENSG00000253352
2	lnc-OSBP2-2	chr22:31365747-31367765	NONHSAT084830

No data

Variant related genes	Relation type
TUG1	TF binding region
MORC2	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000196230	Chromatin interaction

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]
rs5994354	1.00[AMR][1000 genomes]
rs5994355	1.00[AMR][1000 genomes]
rs5994359	1.00[AFR][1000 genomes];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]
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]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31363000-31367200	Active TSS	Psoas Muscle	Psoas
2	chr22:31364400-31367000	Active TSS	A549	lung
3	chr22:31365800-31367000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:31365800-31367400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr22:31365800-31368000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr22:31365800-31375200	ZNF genes & repeats	Fetal Brain Male	brain
7	chr22:31366000-31367000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:31366000-31367000	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr22:31366000-31367000	Flanking Active TSS	HUVEC	blood vessel
10	chr22:31366000-31367200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:31366000-31367200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr22:31366000-31367200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr22:31366000-31367200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr22:31366000-31367200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr22:31366000-31367200	Flanking Active TSS	NH-A	brain
16	chr22:31366000-31367400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:31366000-31367600	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr22:31366000-31373000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr22:31366000-31373400	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr22:31366200-31367000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31366200-31367000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31366200-31367000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr22:31366200-31367000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
24	chr22:31366200-31367200	Flanking Active TSS	Hela-S3	cervix
25	chr22:31366200-31367400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:31366200-31368000	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
27	chr22:31366200-31370200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:31366200-31372600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr22:31366200-31373400	ZNF genes & repeats	Fetal Lung	lung
30	chr22:31366200-31375800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31366400-31367000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:31366400-31367000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
33	chr22:31366400-31367000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:31366400-31367000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:31366400-31367000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:31366400-31367000	Enhancers	Spleen	Spleen
37	chr22:31366400-31367200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:31366400-31367200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr22:31366400-31367200	Flanking Active TSS	HepG2	liver
40	chr22:31366400-31367400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr22:31366400-31367400	Transcr. at gene 5' and 3'	K562	blood
42	chr22:31366400-31367600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:31366400-31367800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
44	chr22:31366400-31368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:31366400-31370000	ZNF genes & repeats	Aorta	Aorta
46	chr22:31366400-31372800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:31366400-31373200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr22:31366400-31374000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:31366400-31374200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr22:31366400-31374600	ZNF genes & repeats	Primary B cells from cord blood	blood

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