Variant report

Variant	rs886471
Chromosome Location	chr22:31366675-31366676
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr22:31365810-31366819	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:31364379-31366852	GM12892	blood:	n/a	n/a
4	MAX	chr22:31366572-31366757	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:31364363-31366848	IMR90	lung:	n/a	n/a
6	KAP1	chr22:31366051-31368128	HEK293	kidney:	n/a	n/a
7	POLR2A	chr22:31364371-31367023	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:31364458-31366692	GM12891	blood:	n/a	n/a
9	MXI1	chr22:31364141-31366765	IMR90	lung:	n/a	chr22:31364727-31364736
10	POLR2A	chr22:31364622-31366750	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:31366132-31366814	GM12892	blood:	n/a	n/a
12	POLR2A	chr22:31366353-31366827	GM12891	blood:	n/a	n/a
13	POLR2A	chr22:31366589-31366774	H1-hESC	embryonic stem cell:	n/a	n/a
14	ARID3A	chr22:31366547-31366697	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:31364540-31367162	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:31362869-31366919	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:31366357-31366714	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:31366366-31366741	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:31363643-31367487	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:31366580-31366735	HepG2	liver:	n/a	n/a
21	SETDB1	chr22:31365847-31370102	U2OS	brain:	n/a	n/a
22	POLR2A	chr22:31366401-31366808	GM12892	blood:	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
ENSG00000196230	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5753387	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753403	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][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	esv3394890	chr22:31363902-31366800	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs886471	THOC5	cis	parietal	SCAN

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	chr22:31363800-31366800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr22:31364400-31367000	Active TSS	A549	lung
4	chr22:31365000-31366800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31365800-31367000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:31365800-31367400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
7	chr22:31365800-31368000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr22:31365800-31375200	ZNF genes & repeats	Fetal Brain Male	brain
9	chr22:31366000-31366800	Flanking Active TSS	Liver	Liver
10	chr22:31366000-31366800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr22:31366000-31366800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr22:31366000-31366800	Flanking Active TSS	HSMMtube	muscle
13	chr22:31366000-31367000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:31366000-31367000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr22:31366000-31367000	Flanking Active TSS	HUVEC	blood vessel
16	chr22:31366000-31367200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:31366000-31367200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr22:31366000-31367200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr22:31366000-31367200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr22:31366000-31367200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr22:31366000-31367200	Flanking Active TSS	NH-A	brain
22	chr22:31366000-31367400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:31366000-31367600	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr22:31366000-31373000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr22:31366000-31373400	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr22:31366200-31366800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr22:31366200-31366800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31366200-31366800	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr22:31366200-31366800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr22:31366200-31366800	Flanking Active TSS	Fetal Heart	heart
31	chr22:31366200-31366800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr22:31366200-31366800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
33	chr22:31366200-31366800	Flanking Active TSS	Right Atrium	heart
34	chr22:31366200-31366800	Flanking Active TSS	Right Ventricle	heart
35	chr22:31366200-31366800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr22:31366200-31366800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr22:31366200-31366800	Enhancers	Stomach Mucosa	stomach
38	chr22:31366200-31366800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr22:31366200-31366800	Flanking Active TSS	HMEC	breast
40	chr22:31366200-31366800	Transcr. at gene 5' and 3'	NHEK	skin
41	chr22:31366200-31367000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:31366200-31367000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:31366200-31367000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr22:31366200-31367000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
45	chr22:31366200-31367200	Flanking Active TSS	Hela-S3	cervix
46	chr22:31366200-31367400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:31366200-31368000	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
48	chr22:31366200-31370200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:31366200-31372600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr22:31366200-31373400	ZNF genes & repeats	Fetal Lung	lung

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