Variant report

Variant	rs9621272
Chromosome Location	chr22:31893282-31893283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr22:31891860-31894008	GM12878	blood:	n/a	n/a
2	STAT3	chr22:31893211-31893933	GM12878	blood:	n/a	n/a
3	WRNIP1	chr22:31893113-31893349	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:31891875-31893504	Raji	blood:	n/a	n/a
5	KAP1	chr22:31892075-31893835	HEK293	kidney:	n/a	n/a
6	ZNF384	chr22:31893128-31893426	GM12878	blood:	n/a	n/a
7	MAX	chr22:31891829-31893558	GM12878	blood:	n/a	n/a
8	EGR1	chr22:31892884-31893292	MCF-7	breast:	n/a	chr22:31892958-31892967 chr22:31893094-31893104
9	MXI1	chr22:31891626-31893666	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr22:31891861-31893323	MCF-7	breast:	n/a	n/a
11	RELA	chr22:31891926-31893465	GM19099	blood:	n/a	n/a
12	POLR2A	chr22:31891765-31893584	GM12878	blood:	n/a	n/a
13	PML	chr22:31891297-31893892	GM12878	blood:	n/a	n/a
14	MXI1	chr22:31891659-31893366	IMR90	lung:	n/a	n/a
15	POLR2A	chr22:31891612-31893621	GM12878	blood:	n/a	n/a
16	MAX	chr22:31891849-31893290	MCF-7	breast:	n/a	n/a
17	BACH1	chr22:31891900-31893464	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr22:31891777-31893435	NB4	blood:	n/a	chr22:31891799-31891810 chr22:31891799-31891810
19	SIN3A	chr22:31891976-31893332	GM12878	blood:	n/a	n/a
20	ZNF263	chr22:31891889-31893693	HEK293-T-REx	kidney:	n/a	chr22:31892986-31892995 chr22:31892742-31892751
21	POLR2A	chr22:31891505-31893529	GM12891	blood:	n/a	n/a
22	NRF1	chr22:31891840-31893309	SK-N-SH	brain:	n/a	chr22:31892409-31892420 chr22:31892195-31892204
23	CREB1	chr22:31893219-31894054	GM12878	blood:	n/a	n/a
24	BCLAF1	chr22:31891845-31893600	GM12878	blood:	n/a	chr22:31892187-31892200 chr22:31892122-31892131 chr22:31892191-31892204 chr22:31893047-31893060
25	MTA3	chr22:31891303-31893982	GM12878	blood:	n/a	n/a
26	STAT5A	chr22:31891671-31893344	GM12878	blood:	n/a	chr22:31892843-31892855
27	POLR2A	chr22:31891767-31893518	GM12878	blood:	n/a	n/a
28	RELA	chr22:31891932-31893313	GM19193	blood:	n/a	n/a
29	TBP	chr22:31893268-31893900	GM12878	blood:	n/a	n/a
30	SPI1	chr22:31893155-31893593	GM12891	blood:	n/a	n/a
31	POLR2A	chr22:31891966-31893758	GM12878	blood:	n/a	n/a
32	MXI1	chr22:31891400-31893326	SK-N-SH	brain:	n/a	n/a
33	RCOR1	chr22:31891679-31893457	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31893238-31893288	NH-A	brain:	n/a
2	chr22:31893238-31893288	AG09309	skin:	n/a
3	chr22:31893238-31893288	LNCaP	prostate:	n/a
4	chr22:31893238-31893288	GM12878	blood:	n/a
5	chr22:31893238-31893288	SK-N-MC	brain:	n/a
6	chr22:31893238-31893288	PrEC	prostate:	n/a
7	chr22:31893238-31893288	K562	blood:	n/a
8	chr22:31893238-31893288	HepG2	liver:	n/a
9	chr22:31893238-31893288	HMEC	breast:	n/a
10	chr22:31893238-31893288	HUVEC	blood vessel:	n/a
11	chr22:31893238-31893288	GM12891	blood:	n/a
12	chr22:31893238-31893288	HCF	heart:	n/a
13	chr22:31893238-31893288	PFSK-1	brain:	n/a
14	chr22:31893238-31893288	Hepatocyte	liver:	n/a
15	chr22:31893238-31893288	HNPCEpiC	eye:	n/a
16	chr22:31893238-31893288	ovcar-3	ovarian:	n/a
17	chr22:31893238-31893288	HRCEpiC	kidney:	n/a
18	chr22:31893238-31893288	HCPEpiC	choroid plexus:	n/a
19	chr22:31893238-31893288	ECC-1	luminal epithelium:	n/a
20	chr22:31893238-31893288	SKMC	muscle:	n/a
21	chr22:31893238-31893288	NT2-D1	testis:	n/a
22	chr22:31893238-31893288	Caco-2	colon:	n/a
23	chr22:31893238-31893288	HEK293	kidney:	embryo
24	chr22:31893238-31893288	AG09319	gingival:	n/a
25	chr22:31893238-31893288	HPAEpiC	pulmonary alveolar:	n/a
26	chr22:31893238-31893288	ProgFib	skin:	n/a
27	chr22:31893238-31893288	HRE	kidney:	n/a
28	chr22:31893238-31893288	HIPEpiC	eye:	n/a
29	chr22:31893238-31893288	NHDF-neo	bronchial:	n/a
30	chr22:31893238-31893288	GM12892	blood:	n/a
31	chr22:31893238-31893288	Jurkat	blood:	n/a
32	chr22:31893238-31893288	RPTEC	kidney:	n/a
33	chr22:31893238-31893288	BE2_C	brain:	n/a
34	chr22:31893238-31893288	IMR90	lung:	fetal
35	chr22:31893238-31893288	MCF-7	breast:	n/a
36	chr22:31893238-31893288	HAEpiC	amniotic membrane:	n/a
37	chr22:31893238-31893288	T-47D	breast:	n/a
38	chr22:31893238-31893288	MCF10A-Er-Src	breast:	n/a
39	chr22:31893238-31893288	AG10803	skin:	n/a
40	chr22:31893238-31893288	HCM	heart:	n/a
41	chr22:31893238-31893288	BJ	skin:	n/a
42	chr22:31893238-31893288	AG04450	lung:	fetal
43	chr22:31893238-31893288	PANC-1	pancreas:	n/a
44	chr22:31893238-31893288	U87	brain:	n/a
45	chr22:31893238-31893288	AoSMC	blood vessel:	n/a
46	chr22:31893238-31893288	SAEC	small airway:	n/a
47	chr22:31893238-31893288	GM19239	blood:	n/a
48	chr22:31893238-31893288	NHBE	bronchial:	n/a
49	chr22:31893238-31893288	HCT-116	colon:	n/a
50	chr22:31893238-31893288	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:31892596..31895248-chr22:31897166..31900535,3	MCF-7	breast:
2	chr22:31892881..31894794-chr22:31897314..31900016,2	K562	blood:
3	chr22:31892695..31894776-chr22:32016253..32018919,2	K562	blood:

No data

Variant related genes	Relation type
EIF4ENIF1	TF binding region
EIF4ENIF1	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12169907	0.84[AFR][1000 genomes]
rs9621253	0.84[AFR][1000 genomes]
rs9621267	0.84[AFR][1000 genomes]
rs9985186	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31891400-31893400	Active TSS	Hela-S3	cervix
2	chr22:31891600-31893400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:31891600-31893400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:31891600-31893400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31891600-31893400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:31891600-31893400	Active TSS	Thymus	Thymus
7	chr22:31891600-31893400	Active TSS	HSMM	muscle
8	chr22:31891600-31893600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr22:31891600-31893600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr22:31891600-31893600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr22:31891600-31893600	Active TSS	A549	lung
12	chr22:31891600-31893600	Active TSS	NHDF-Ad	bronchial
13	chr22:31891600-31893600	Active TSS	NHLF	lung
14	chr22:31891600-31893600	Active TSS	Osteobl	bone
15	chr22:31891600-31893800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31891800-31893400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr22:31891800-31893400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr22:31891800-31893400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:31891800-31893400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:31891800-31893400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr22:31891800-31893400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr22:31891800-31893400	Active TSS	Fetal Kidney	kidney
23	chr22:31891800-31893400	Active TSS	Fetal Thymus	thymus
24	chr22:31891800-31893400	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr22:31891800-31893400	Active TSS	GM12878-XiMat	blood
26	chr22:31891800-31893600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr22:31891800-31893600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:31891800-31893800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:31891800-31893800	Active TSS	Fetal Lung	lung
30	chr22:31892000-31893400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:31892000-31893400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31892000-31893400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr22:31892000-31893400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:31892000-31893400	Active TSS	Fetal Brain Male	brain
35	chr22:31892000-31893600	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr22:31892000-31893800	Active TSS	Fetal Heart	heart
37	chr22:31892200-31893600	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr22:31892200-31893600	Active TSS	Colonic Mucosa	Colon
39	chr22:31892200-31893800	Active TSS	Primary T cells fromperipheralblood	blood
40	chr22:31892400-31893600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:31892600-31893400	Flanking Active TSS	Liver	Liver
42	chr22:31892600-31893400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr22:31892600-31893600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr22:31892600-31893600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:31892600-31893600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr22:31892600-31893800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr22:31892800-31893400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr22:31892800-31893400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr22:31892800-31893400	Flanking Active TSS	NH-A	brain
50	chr22:31892800-31893600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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