Variant report

Variant	rs7291050
Chromosome Location	chr22:32341957-32341958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:32339474-32343821	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr22:32339679-32342128	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:32339465-32342192	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:32339500-32342859	K562	blood:	n/a	n/a
5	POLR2A	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
6	POLR2A	chr22:32339683-32342704	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr22:32339641-32341962	H1-neurons	neurons:	n/a	n/a
8	CHD1	chr22:32341164-32342085	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:32339427-32342832	K562	blood:	n/a	n/a
10	POLR2A	chr22:32341570-32342133	MCF10A-Er-Src	breast:	n/a	n/a
11	MAZ	chr22:32339487-32342007	IMR90	lung:	n/a	chr22:32340069-32340076 chr22:32340395-32340405
12	POLR2A	chr22:32339651-32343721	K562	blood:	n/a	n/a
13	POLR2A	chr22:32341627-32345124	HepG2	liver:	n/a	n/a
14	IRF1	chr22:32341647-32342040	K562	blood:	n/a	n/a
15	POLR2A	chr22:32341158-32342857	HepG2	liver:	n/a	n/a
16	REST	chr22:32339423-32342896	H1-neurons	neurons:	n/a	chr22:32340395-32340408 chr22:32340642-32340652 chr22:32340411-32340421
17	RAD21	chr22:32338914-32343861	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr22:32339638-32342411	Hela-S3	cervix:	n/a	n/a
19	MTA3	chr22:32340934-32342133	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:32341677-32342856	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr22:32339732-32342841	GM12878	blood:	n/a	n/a
22	POLR2A	chr22:32340955-32341989	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
24	POLR2A	chr22:32341894-32342750	GM12878	blood:	n/a	n/a
25	HEY1	chr22:32341704-32342262	K562	blood:	n/a	n/a
26	POLR2A	chr22:32340389-32342751	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr22:32340395-32342870	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:32341597-32342287	GM12892	blood:	n/a	n/a
29	POLR2A	chr22:32339418-32342795	K562	blood:	n/a	n/a
30	POLR2A	chr22:32340173-32343627	GM12878	blood:	n/a	n/a
31	MXI1	chr22:32339460-32342498	IMR90	lung:	n/a	n/a
32	POLR2A	chr22:32339322-32342820	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32148473..32152307-chr22:32339145..32342092,6	K562	blood:
2	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
3	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
4	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
5	22:31829733-31836635..22:32338420-32342898	K562	blood:
6	chr22:32340518..32342759-chr22:32869952..32872764,2	K562	blood:
7	chr22:32213023..32215994-chr22:32340622..32343238,2	MCF-7	breast:
8	chr22:32265561..32271092-chr22:32337255..32342585,8	MCF-7	breast:
9	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
10	chr22:32263494..32270321-chr22:32339054..32343535,9	K562	blood:
11	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
12	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
13	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
14	chr22:32148601..32151339-chr22:32339160..32341973,3	MCF-7	breast:
15	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
16	22:31936958-31958600..22:32338420-32342898	K562	blood:
17	chr22:32147800..32152307-chr22:32338859..32342135,7	K562	blood:
18	chr22:32267945..32270075-chr22:32339613..32341959,2	MCF-7	breast:
19	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
20	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
21	chr22:32149264..32152111-chr22:32339608..32342388,3	MCF-7	breast:
22	22:32284948-32287956..22:32338420-32342898	Hela-S3	cervix:
23	22:32150875-32154575..22:32338420-32342898	K562	blood:

No data

Variant related genes	Relation type
C22orf24	TF binding region
YWHAH	TF binding region
ENSG00000214093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000230866	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1049583	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12168840	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs130256	0.81[MEX][hapmap]
rs130264	0.81[MEX][hapmap]
rs2246704	0.88[CHB][hapmap]
rs2301415	0.95[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2853884	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2853887	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2858750	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2858752	0.88[CHB][hapmap]
rs4820059	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[YRI][hapmap]
rs6518758	0.81[MEX][hapmap]
rs71806276	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7290696	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7364274	0.90[CEU][hapmap];1.00[LWK][hapmap]
rs738181	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8141011	0.95[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs933226	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9606887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606893	0.81[MEX][hapmap]
rs9606907	0.81[MEX][hapmap]
rs9609389	1.00[ASW][hapmap]
rs9609394	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs9609396	0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap]
rs9609397	1.00[YRI][hapmap]
rs9621371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9621373	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621386	0.81[MEX][hapmap]

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	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7291050	TUG1	cis	cerebellum	SCAN
rs7291050	LIF	cis	cerebellum	SCAN
rs7291050	CCDC117	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32339600-32342000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr22:32339600-32342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:32339600-32342400	Active TSS	Brain Angular Gyrus	brain
4	chr22:32339600-32342600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr22:32339600-32342800	Active TSS	Psoas Muscle	Psoas
6	chr22:32339600-32343200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr22:32339600-32343600	Active TSS	Aorta	Aorta
8	chr22:32339600-32343600	Active TSS	Right Atrium	heart
9	chr22:32339800-32342000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr22:32339800-32342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:32339800-32342000	Active TSS	Left Ventricle	heart
12	chr22:32339800-32342200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:32339800-32342200	Active TSS	Ovary	ovary
14	chr22:32339800-32342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:32339800-32342600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr22:32339800-32343400	Active TSS	Lung	lung
17	chr22:32340000-32342000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:32340000-32342000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:32340000-32342000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:32340000-32342000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:32340000-32342000	Active TSS	Brain Germinal Matrix	brain
22	chr22:32340000-32342000	Active TSS	Colonic Mucosa	Colon
23	chr22:32340000-32342000	Active TSS	Fetal Muscle Trunk	muscle
24	chr22:32340000-32342000	Active TSS	Gastric	stomach
25	chr22:32340000-32342000	Active TSS	Right Ventricle	heart
26	chr22:32340000-32342000	Active TSS	NHDF-Ad	bronchial
27	chr22:32340000-32342000	Active TSS	NHLF	lung
28	chr22:32340000-32342200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:32340000-32342200	Active TSS	Pancreas	Pancrea
30	chr22:32340000-32342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:32340000-32342400	Active TSS	Fetal Intestine Large	intestine
32	chr22:32340000-32342800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:32340400-32342400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:32341000-32342000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr22:32341000-32342000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr22:32341000-32342000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr22:32341200-32342000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr22:32341200-32342000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr22:32341200-32342000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:32341200-32342000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr22:32341200-32342000	Active TSS	Stomach Mucosa	stomach
42	chr22:32341200-32342200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr22:32341200-32342200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr22:32341200-32342200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr22:32341200-32342200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr22:32341200-32342200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr22:32341200-32342200	Flanking Active TSS	Placenta	Placenta
48	chr22:32341200-32342400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr22:32341200-32342600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:32341200-32342600	Flanking Active TSS	Adipose Nuclei	Adipose

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