Variant report

Variant	rs16988805
Chromosome Location	chr22:30988413-30988414
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr22:30987638-30988460	ECC-1	luminal epithelium:	n/a	n/a
2	GATA2	chr22:30988012-30988425	SH-SY5Y	brain:	n/a	chr22:30988393-30988404 chr22:30988108-30988121
3	FOXM1	chr22:30987830-30988584	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF143	chr22:30987697-30988457	GM12878	blood:	n/a	n/a
5	YY1	chr22:30987746-30988509	SK-N-SH_RA	brain:	n/a	n/a
6	MYC	chr22:30987108-30988538	A549	lung:	n/a	n/a
7	PAX5	chr22:30987922-30988450	GM12878	blood:	n/a	n/a
8	MAX	chr22:30987699-30988417	GM12878	blood:	n/a	n/a
9	SP1	chr22:30987629-30988480	A549	lung:	n/a	chr22:30987757-30987767 chr22:30988316-30988325 chr22:30988167-30988178
10	PML	chr22:30987138-30988569	GM12878	blood:	n/a	n/a
11	SP1	chr22:30987761-30988423	H1-hESC	embryonic stem cell:	n/a	chr22:30988316-30988325 chr22:30988167-30988178
12	SP1	chr22:30987748-30988497	A549	lung:	n/a	chr22:30987757-30987767 chr22:30988316-30988325 chr22:30988167-30988178
13	USF1	chr22:30987600-30988439	ECC-1	luminal epithelium:	n/a	chr22:30987878-30987887
14	SPI1	chr22:30987631-30988539	HL-60	blood:	n/a	n/a
15	CHD2	chr22:30987758-30988420	GM12878	blood:	n/a	n/a
16	TCF12	chr22:30987695-30988534	ECC-1	luminal epithelium:	n/a	n/a
17	GABPA	chr22:30987666-30988430	MCF-7	breast:	n/a	n/a
18	ELF1	chr22:30987766-30988482	A549	lung:	n/a	n/a
19	ATF3	chr22:30987991-30988424	K562	blood:	n/a	n/a
20	MAZ	chr22:30986755-30988532	IMR90	lung:	n/a	n/a
21	REST	chr22:30987413-30988751	H1-neurons	neurons:	n/a	chr22:30988185-30988198
22	HCFC1	chr22:30986827-30988481	Hela-S3	cervix:	n/a	n/a
23	SIN3A	chr22:30987163-30988473	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr22:30988009-30988430	GM12878	blood:	n/a	n/a
25	TBP	chr22:30987630-30988458	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr22:30987591-30988427	GM12878	blood:	n/a	chr22:30987744-30987756
27	ATF3	chr22:30987950-30988424	A549	lung:	n/a	n/a
28	CREB1	chr22:30987642-30988536	K562	blood:	n/a	n/a
29	POLR2A	chr22:30987664-30988559	H1-neurons	neurons:	n/a	n/a
30	MYC	chr22:30987341-30988441	NB4	blood:	n/a	n/a
31	CHD2	chr22:30987675-30988416	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIX5	chr22:30987947-30988414	K562	blood:	n/a	n/a
33	BCLAF1	chr22:30987794-30988471	K562	blood:	n/a	chr22:30988287-30988300
34	RCOR1	chr22:30987798-30988438	K562	blood:	n/a	n/a
35	EBF1	chr22:30987798-30988525	GM12878	blood:	n/a	n/a
36	FOXM1	chr22:30987671-30988475	GM12878	blood:	n/a	n/a
37	SIX5	chr22:30987640-30988448	A549	lung:	n/a	n/a
38	SIX5	chr22:30987840-30988441	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr22:30987549-30988435	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr22:30987473-30988423	GM12878	blood:	n/a	n/a
41	TCF12	chr22:30987579-30988428	A549	lung:	n/a	n/a
42	RUNX3	chr22:30987676-30988507	GM12878	blood:	n/a	n/a
43	RFX5	chr22:30987775-30988431	HepG2	liver:	n/a	chr22:30988248-30988263 chr22:30988261-30988275 chr22:30988248-30988263 chr22:30988248-30988263
44	POLR2A	chr22:30987509-30988437	HUVEC	blood vessel:	n/a	n/a
45	SMARCC1	chr22:30987917-30988427	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr22:30987324-30988463	HepG2	liver:	n/a	chr22:30988249-30988264 chr22:30988247-30988262
47	ELF1	chr22:30987605-30988442	MCF-7	breast:	n/a	chr22:30987744-30987756
48	MAX	chr22:30987218-30988629	HCT-116	colon:	n/a	n/a
49	MAZ	chr22:30987718-30988473	GM12878	blood:	n/a	n/a
50	CREB1	chr22:30987789-30988444	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30988383-30988433	MCF-7	breast:	n/a
2	chr22:30988383-30988433	AoSMC	blood vessel:	n/a
3	chr22:30988383-30988433	AG04449	skin:	fetal
4	chr22:30988383-30988433	HCT-116	colon:	n/a
5	chr22:30988383-30988433	IMR90	lung:	fetal
6	chr22:30988383-30988433	HRE	kidney:	n/a
7	chr22:30988383-30988433	PrEC	prostate:	n/a
8	chr22:30988383-30988433	K562	blood:	n/a
9	chr22:30988383-30988433	NT2-D1	testis:	n/a
10	chr22:30988383-30988433	HCF	heart:	n/a
11	chr22:30988383-30988433	HRCEpiC	kidney:	n/a
12	chr22:30988383-30988433	LNCaP	prostate:	n/a
13	chr22:30988383-30988433	NHBE	bronchial:	n/a
14	chr22:30988383-30988433	NH-A	brain:	n/a
15	chr22:30988383-30988433	A549	lung:	n/a
16	chr22:30988383-30988433	SK-N-SH	brain:	n/a
17	chr22:30988383-30988433	NB4	blood:	n/a
18	chr22:30988383-30988433	AG10803	skin:	n/a
19	chr22:30988383-30988433	Hepatocyte	liver:	n/a
20	chr22:30988383-30988433	SK-N-MC	brain:	n/a
21	chr22:30988383-30988433	HCPEpiC	choroid plexus:	n/a
22	chr22:30988383-30988433	BE2_C	brain:	n/a
23	chr22:30988383-30988433	HEEpiC	esophagus:	n/a
24	chr22:30988383-30988433	GM06990	blood:	n/a
25	chr22:30988383-30988433	ProgFib	skin:	n/a
26	chr22:30988383-30988433	NHDF-neo	bronchial:	n/a
27	chr22:30988383-30988433	HCM	heart:	n/a
28	chr22:30988383-30988433	AG09319	gingival:	n/a
29	chr22:30988383-30988433	Jurkat	blood:	n/a
30	chr22:30988383-30988433	GM19239	blood:	n/a
31	chr22:30988383-30988433	ovcar-3	ovarian:	n/a
32	chr22:30988383-30988433	RPTEC	kidney:	n/a
33	chr22:30988383-30988433	HRPEpiC	eye:	n/a
34	chr22:30988383-30988433	SK-N-SH_RA	brain:	n/a
35	chr22:30988383-30988433	HEK293	kidney:	embryo
36	chr22:30988383-30988433	HepG2	liver:	n/a
37	chr22:30988383-30988433	HAEpiC	amniotic membrane:	n/a
38	chr22:30988383-30988433	HIPEpiC	eye:	n/a
39	chr22:30988383-30988433	T-47D	breast:	n/a
40	chr22:30988383-30988433	GM12891	blood:	n/a
41	chr22:30988383-30988433	ECC-1	luminal epithelium:	n/a
42	chr22:30988383-30988433	BJ	skin:	n/a
43	chr22:30988383-30988433	AG04450	lung:	fetal
44	chr22:30988383-30988433	HNPCEpiC	eye:	n/a
45	chr22:30988383-30988433	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:30988383-30988433	HL-60	blood:	n/a
47	chr22:30988383-30988433	HMEC	breast:	n/a
48	chr22:30988383-30988433	PANC-1	pancreas:	n/a
49	chr22:30988383-30988433	Caco-2	colon:	n/a
50	chr22:30988383-30988433	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30987737..30989936-chr22:31002004..31003702,2	MCF-7	breast:

No data

Variant related genes	Relation type
PES1	TF binding region
PES1	CpG island
ENSG00000100029	Chromatin interaction
ENSG00000185339	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16988812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5753136	1.00[AMR][1000 genomes]
rs72550762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390212	1.00[AMR][1000 genomes]
rs73390232	1.00[AMR][1000 genomes]
rs73390250	1.00[AMR][1000 genomes]
rs73390257	1.00[AMR][1000 genomes]
rs73392181	1.00[AFR][1000 genomes]
rs73406456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30986400-30988600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:30986600-30988600	Active TSS	Fetal Kidney	kidney
3	chr22:30986800-30988600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:30986800-30988600	Active TSS	Psoas Muscle	Psoas
5	chr22:30986800-30988600	Active TSS	A549	lung
6	chr22:30987000-30988600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:30987000-30988600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr22:30987000-30988600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:30987000-30988600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:30987000-30988600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:30987000-30988600	Active TSS	HSMM	muscle
12	chr22:30987000-30988600	Active TSS	NHDF-Ad	bronchial
13	chr22:30987000-30988600	Active TSS	NHEK	skin
14	chr22:30987200-30988600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr22:30987200-30988600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:30987200-30988600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:30987200-30988600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:30987200-30988600	Active TSS	Ovary	ovary
19	chr22:30987200-30988600	Active TSS	HSMMtube	muscle
20	chr22:30987400-30988600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:30987400-30988600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr22:30987400-30988600	Active TSS	Brain Anterior Caudate	brain
23	chr22:30987400-30988600	Active TSS	Brain Cingulate Gyrus	brain
24	chr22:30987400-30988600	Active TSS	Brain Substantia Nigra	brain
25	chr22:30987400-30988600	Active TSS	Colon Smooth Muscle	Colon
26	chr22:30987400-30988600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr22:30987400-30988600	Active TSS	Fetal Brain Female	brain
28	chr22:30987400-30988600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr22:30987400-30988600	Active TSS	Right Atrium	heart
30	chr22:30987400-30988600	Active TSS	Right Ventricle	heart
31	chr22:30987400-30988600	Active TSS	Stomach Smooth Muscle	stomach
32	chr22:30987600-30988600	Active TSS	Brain Angular Gyrus	brain
33	chr22:30987600-30988600	Active TSS	Colonic Mucosa	Colon
34	chr22:30987600-30988600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:30987600-30988600	Active TSS	Thymus	Thymus
36	chr22:30987600-30988600	Active TSS	NH-A	brain
37	chr22:30988000-30988600	Flanking Active TSS	Dnd41	blood
38	chr22:30988000-30992800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:30988000-31001400	Weak transcription	Lung	lung
40	chr22:30988200-30988600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr22:30988200-30988600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr22:30988200-30988600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr22:30988200-30988600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr22:30988200-30988600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr22:30988200-30988600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr22:30988200-30988600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:30988200-30988600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr22:30988200-30988600	Enhancers	Fetal Brain Male	brain
49	chr22:30988200-30988600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr22:30988200-30988600	Enhancers	Fetal Intestine Small	intestine

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