Variant report

Variant	rs62240614
Chromosome Location	chr22:32364809-32364810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr22:32364738-32364837	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32364803-32364853	ECC-1	luminal epithelium:	n/a
2	chr22:32364803-32364853	GM12878	blood:	n/a
3	chr22:32364803-32364853	HRPEpiC	eye:	n/a
4	chr22:32364803-32364853	HEK293	kidney:	embryo
5	chr22:32364803-32364853	LNCaP	prostate:	n/a
6	chr22:32364803-32364853	GM12892	blood:	n/a
7	chr22:32364803-32364853	Caco-2	colon:	n/a
8	chr22:32364803-32364853	PFSK-1	brain:	n/a
9	chr22:32364803-32364853	HEEpiC	esophagus:	n/a
10	chr22:32364803-32364853	Hela-S3	cervix:	n/a
11	chr22:32364803-32364853	HAEpiC	amniotic membrane:	n/a
12	chr22:32364803-32364853	AG09319	gingival:	n/a
13	chr22:32364803-32364853	BJ	skin:	n/a
14	chr22:32364803-32364853	NH-A	brain:	n/a
15	chr22:32364803-32364853	MCF-7	breast:	n/a
16	chr22:32364803-32364853	BE2_C	brain:	n/a
17	chr22:32364803-32364853	SKMC	muscle:	n/a
18	chr22:32364803-32364853	IMR90	lung:	fetal
19	chr22:32364803-32364853	K562	blood:	n/a
20	chr22:32364803-32364853	Jurkat	blood:	n/a
21	chr22:32364803-32364853	HIPEpiC	eye:	n/a
22	chr22:32364803-32364853	HCT-116	colon:	n/a
23	chr22:32364803-32364853	HNPCEpiC	eye:	n/a
24	chr22:32364803-32364853	MCF10A-Er-Src	breast:	n/a
25	chr22:32364803-32364853	NHBE	bronchial:	n/a
26	chr22:32364803-32364853	NHDF-neo	bronchial:	n/a
27	chr22:32364803-32364853	A549	lung:	n/a
28	chr22:32364803-32364853	NB4	blood:	n/a
29	chr22:32364803-32364853	AoSMC	blood vessel:	n/a
30	chr22:32364803-32364853	HMEC	breast:	n/a
31	chr22:32364803-32364853	SAEC	small airway:	n/a
32	chr22:32364803-32364853	RPTEC	kidney:	n/a
33	chr22:32364803-32364853	H1-hESC	embryonic stem cell:	embryo
34	chr22:32364803-32364853	U87	brain:	n/a
35	chr22:32364803-32364853	Hepatocyte	liver:	n/a
36	chr22:32364803-32364853	HUVEC	blood vessel:	n/a
37	chr22:32364803-32364853	GM19239	blood:	n/a
38	chr22:32364803-32364853	HL-60	blood:	n/a
39	chr22:32364803-32364853	AG04450	lung:	fetal
40	chr22:32364803-32364853	PrEC	prostate:	n/a
41	chr22:32364803-32364853	AG09309	skin:	n/a
42	chr22:32364803-32364853	HCPEpiC	choroid plexus:	n/a
43	chr22:32364803-32364853	SK-N-MC	brain:	n/a
44	chr22:32364803-32364853	AG04449	skin:	fetal
45	chr22:32364803-32364853	CMK	blood:	n/a
46	chr22:32364803-32364853	HRCEpiC	kidney:	n/a
47	chr22:32364803-32364853	HCM	heart:	n/a
48	chr22:32364803-32364853	SK-N-SH_RA	brain:	n/a
49	chr22:32364803-32364853	ProgFib	skin:	n/a
50	chr22:32364803-32364853	AG10803	skin:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32360288-32405313..22:32764253-32784733	K562	blood:
2	22:32360288-32405313..22:32868055-32872511	K562	blood:
3	22:32012966-32043914..22:32360288-32405313	K562	blood:
4	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
5	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
6	22:32360288-32405313..22:32750950-32761732	K562	blood:
7	22:32360288-32405313..22:32860159-32865649	K562	blood:
8	chr22:32361170..32363262-chr22:32364167..32366088,2	K562	blood:
9	22:32360288-32405313..22:32740683-32750950	K562	blood:
10	chr22:32056838..32059373-chr22:32364593..32366329,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230866	TF binding region
ENSG00000230866	CpG island
ENSG00000185666	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11912760	0.93[ASN][1000 genomes]
rs16989711	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28433835	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33943816	0.81[EUR][1000 genomes]
rs56350448	0.81[EUR][1000 genomes]
rs58948856	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994459	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998197	1.00[ASN][1000 genomes]
rs62240589	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240590	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73884250	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32351200-32366000	Weak transcription	Stomach Mucosa	stomach
2	chr22:32351400-32366400	Weak transcription	Right Atrium	heart
3	chr22:32353000-32366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:32353000-32366000	Weak transcription	Esophagus	oesophagus
5	chr22:32353000-32366000	Weak transcription	Gastric	stomach
6	chr22:32353000-32366200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:32353200-32365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:32353400-32366000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:32353400-32366400	Weak transcription	Psoas Muscle	Psoas
10	chr22:32353600-32365400	Weak transcription	GM12878-XiMat	blood
11	chr22:32353800-32365600	Weak transcription	NHEK	skin
12	chr22:32354000-32366200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:32354200-32365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:32354200-32365800	Weak transcription	K562	blood
15	chr22:32354200-32366000	Weak transcription	Primary B cells from cord blood	blood
16	chr22:32354400-32365800	Weak transcription	Brain Anterior Caudate	brain
17	chr22:32354400-32366400	Weak transcription	Colonic Mucosa	Colon
18	chr22:32354600-32365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:32354600-32366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:32354600-32366000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:32354600-32366000	Weak transcription	Fetal Lung	lung
22	chr22:32354600-32366200	Weak transcription	Liver	Liver
23	chr22:32354600-32366200	Weak transcription	Brain Angular Gyrus	brain
24	chr22:32354600-32366400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:32354600-32366400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:32354600-32366400	Weak transcription	NHLF	lung
27	chr22:32354800-32365800	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:32354800-32365800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:32354800-32365800	Weak transcription	HMEC	breast
30	chr22:32354800-32366000	Weak transcription	Brain Germinal Matrix	brain
31	chr22:32354800-32366000	Weak transcription	Osteobl	bone
32	chr22:32354800-32366400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:32354800-32366400	Weak transcription	HSMM	muscle
34	chr22:32355000-32365600	Weak transcription	Fetal Thymus	thymus
35	chr22:32355000-32365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:32355000-32365800	Weak transcription	Fetal Intestine Large	intestine
37	chr22:32355000-32366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:32355000-32366000	Weak transcription	Thymus	Thymus
39	chr22:32355000-32366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:32355000-32366200	Weak transcription	NH-A	brain
41	chr22:32355000-32366400	Weak transcription	Left Ventricle	heart
42	chr22:32355000-32366400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:32355600-32366000	Weak transcription	Fetal Intestine Small	intestine
44	chr22:32355600-32366200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:32357200-32366200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:32357600-32365800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:32357800-32365800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:32357800-32366000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr22:32358800-32365800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr22:32358800-32366200	Weak transcription	Fetal Heart	heart

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