Variant report

Variant	rs73392247
Chromosome Location	chr22:31608041-31608042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr22:31607907-31608148	GM12878	blood:	n/a	n/a
2	RAD21	chr22:31607931-31608316	H1-hESC	embryonic stem cell:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
3	POLR2A	chr22:31607965-31608694	ProgFib	skin:	n/a	n/a
4	POLR2A	chr22:31607876-31608669	SK-N-MC	brain:	n/a	n/a
5	MAX	chr22:31607871-31608665	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:31607928-31608216	HepG2	liver:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
7	STAT1	chr22:31607925-31608483	GM12878	blood:	n/a	n/a
8	GATA2	chr22:31607928-31608644	SH-SY5Y	brain:	n/a	n/a
9	CTCF	chr22:31608040-31608190	HMEC	breast:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
10	MAX	chr22:31607837-31608529	MCF-7	breast:	n/a	n/a
11	CTCF	chr22:31607980-31608130	HMF	breast:	n/a	chr22:31608100-31608116 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
12	CTCF	chr22:31608020-31608170	AG04450	lung:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
13	TCF12	chr22:31607969-31608438	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr22:31607795-31608543	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr22:31607876-31608520	K562	blood:	n/a	n/a
16	E2F6	chr22:31608035-31608504	H1-hESC	embryonic stem cell:	n/a	chr22:31608284-31608295 chr22:31608147-31608156 chr22:31608109-31608119
17	POLR2A	chr22:31607966-31608525	HEK293	kidney:	n/a	n/a
18	E2F6	chr22:31608001-31608506	K562	blood:	n/a	chr22:31608284-31608295 chr22:31608147-31608156 chr22:31608109-31608119
19	TCF12	chr22:31607990-31608703	A549	lung:	n/a	n/a
20	POLR2A	chr22:31607738-31608621	GM12878	blood:	n/a	n/a
21	PAX5	chr22:31607980-31608358	GM12892	blood:	n/a	chr22:31608140-31608159
22	MXI1	chr22:31608041-31608925	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr22:31607980-31608130	K562	blood:	n/a	chr22:31608100-31608116 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
24	POLR2A	chr22:31607871-31608662	K562	blood:	n/a	n/a
25	GABPA	chr22:31607908-31608151	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr22:31607880-31608607	H1-hESC	embryonic stem cell:	n/a	chr22:31608547-31608556 chr22:31608284-31608295 chr22:31608147-31608156 chr22:31608109-31608119
27	CTCF	chr22:31608020-31608170	Caco-2	colon:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
28	CTCF	chr22:31608000-31608150	HPF	lung:	n/a	chr22:31608100-31608116 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
29	BCLAF1	chr22:31607826-31608516	GM12878	blood:	n/a	chr22:31608183-31608196 chr22:31608119-31608132 chr22:31608143-31608156
30	GABPA	chr22:31607950-31608145	GM12878	blood:	n/a	n/a
31	RAD21	chr22:31607846-31608389	MCF-7	breast:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
32	MYBL2	chr22:31607525-31608524	HepG2	liver:	n/a	n/a
33	SMC3	chr22:31607849-31608325	Hela-S3	cervix:	n/a	chr22:31608144-31608154 chr22:31608101-31608115
34	POLR2A	chr22:31607897-31608704	HUVEC	blood vessel:	n/a	n/a
35	MAZ	chr22:31607817-31608764	GM12878	blood:	n/a	n/a
36	POLR2A	chr22:31607929-31608481	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr22:31607893-31608620	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr22:31608019-31608181	HepG2	liver:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
39	ZBTB33	chr22:31607984-31608497	HCT-116	colon:	n/a	n/a
40	RAD21	chr22:31607901-31608365	HepG2	liver:	n/a	chr22:31608144-31608154 chr22:31608100-31608119
41	MXI1	chr22:31608017-31608558	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr22:31607845-31608524	A549	lung:	n/a	chr22:31608143-31608157 chr22:31608147-31608156 chr22:31608186-31608198 chr22:31608148-31608157 chr22:31608188-31608197 chr22:31608147-31608157 chr22:31608187-31608196 chr22:31608146-31608157 chr22:31608186-31608198 chr22:31608146-31608158 chr22:31608188-31608197 chr22:31608183-31608197 chr22:31608148-31608157 chr22:31608147-31608157 chr22:31608146-31608158
43	POLR2A	chr22:31607822-31608554	HCT-116	colon:	n/a	n/a
44	CTCF	chr22:31608020-31608170	AoAF	blood vessel:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
45	CTCF	chr22:31607980-31608130	MCF-7	breast:	n/a	chr22:31608100-31608116 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117
46	TAF7	chr22:31607995-31608621	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr22:31607989-31608659	MCF-7	breast:	n/a	n/a
48	SIN3AK20	chr22:31607869-31608572	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F4	chr22:31608003-31608429	GM12878	blood:	n/a	chr22:31608147-31608156 chr22:31608109-31608119
50	CTCF	chr22:31607964-31608255	A549	lung:	n/a	chr22:31608100-31608116 chr22:31608143-31608153 chr22:31608102-31608115 chr22:31608104-31608114 chr22:31608099-31608117

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31608022-31608072	HCM	heart:	n/a
2	chr22:31608022-31608072	NH-A	brain:	n/a
3	chr22:31608022-31608072	HCPEpiC	choroid plexus:	n/a
4	chr22:31608022-31608072	HCT-116	colon:	n/a
5	chr22:31608022-31608072	SK-N-SH_RA	brain:	n/a
6	chr22:31608022-31608072	GM12891	blood:	n/a
7	chr22:31608022-31608072	HRE	kidney:	n/a
8	chr22:31608022-31608072	GM06990	blood:	n/a
9	chr22:31608022-31608072	Hela-S3	cervix:	n/a
10	chr22:31608022-31608072	ProgFib	skin:	n/a
11	chr22:31608022-31608072	Jurkat	blood:	n/a
12	chr22:31608022-31608072	HIPEpiC	eye:	n/a
13	chr22:31608022-31608072	HRPEpiC	eye:	n/a
14	chr22:31608022-31608072	MCF-7	breast:	n/a
15	chr22:31608022-31608072	AG09319	gingival:	n/a
16	chr22:31608022-31608072	NB4	blood:	n/a
17	chr22:31608022-31608072	NHDF-neo	bronchial:	n/a
18	chr22:31608022-31608072	SAEC	small airway:	n/a
19	chr22:31608022-31608072	AG09309	skin:	n/a
20	chr22:31608022-31608072	NHBE	bronchial:	n/a
21	chr22:31608022-31608072	HRCEpiC	kidney:	n/a
22	chr22:31608022-31608072	RPTEC	kidney:	n/a
23	chr22:31608022-31608072	HEEpiC	esophagus:	n/a
24	chr22:31608022-31608072	PANC-1	pancreas:	n/a
25	chr22:31608022-31608072	AG04449	skin:	fetal
26	chr22:31608022-31608072	HEK293	kidney:	embryo
27	chr22:31608022-31608072	AG10803	skin:	n/a
28	chr22:31608022-31608072	U87	brain:	n/a
29	chr22:31608022-31608072	GM12878	blood:	n/a
30	chr22:31608022-31608072	AoSMC	blood vessel:	n/a
31	chr22:31608022-31608072	CMK	blood:	n/a
32	chr22:31608022-31608072	BE2_C	brain:	n/a
33	chr22:31608022-31608072	HNPCEpiC	eye:	n/a
34	chr22:31608022-31608072	SK-N-MC	brain:	n/a
35	chr22:31608022-31608072	GM12892	blood:	n/a
36	chr22:31608022-31608072	PrEC	prostate:	n/a
37	chr22:31608022-31608072	HL-60	blood:	n/a
38	chr22:31608022-31608072	HUVEC	blood vessel:	n/a
39	chr22:31608022-31608072	Hepatocyte	liver:	n/a
40	chr22:31608022-31608072	HepG2	liver:	n/a
41	chr22:31608022-31608072	K562	blood:	n/a
42	chr22:31608022-31608072	MCF10A-Er-Src	breast:	n/a
43	chr22:31608022-31608072	AG04450	lung:	fetal
44	chr22:31608022-31608072	A549	lung:	n/a
45	chr22:31608022-31608072	BJ	skin:	n/a
46	chr22:31608022-31608072	HPAEpiC	pulmonary alveolar:	n/a
47	chr22:31608022-31608072	HCF	heart:	n/a
48	chr22:31608022-31608072	IMR90	lung:	fetal
49	chr22:31608022-31608072	NT2-D1	testis:	n/a
50	chr22:31608022-31608072	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31607254..31610426-chr22:31643805..31645899,3	MCF-7	breast:

Variant related genes	Relation type
LIMK2	TF binding region
LIMK2	CpG island
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16989439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16989458	1.00[AMR][1000 genomes]
rs16989527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394316	1.00[AMR][1000 genomes]
rs73394338	1.00[AMR][1000 genomes]
rs73394364	1.00[AMR][1000 genomes]
rs73394391	1.00[AMR][1000 genomes]
rs73396208	1.00[AMR][1000 genomes]
rs73396214	1.00[AMR][1000 genomes]
rs73396219	1.00[AMR][1000 genomes]
rs73396221	1.00[AMR][1000 genomes]
rs73396224	0.81[AFR][1000 genomes];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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31604200-31608200	Weak transcription	Fetal Brain Male	brain
3	chr22:31605800-31608200	Enhancers	Lung	lung
4	chr22:31606400-31608200	Enhancers	Spleen	Spleen
5	chr22:31607000-31608200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:31607000-31608200	Flanking Active TSS	HUVEC	blood vessel
7	chr22:31607200-31608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:31607400-31609400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr22:31607600-31608200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr22:31607600-31609400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:31607600-31609600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr22:31607600-31609800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr22:31607800-31608200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:31607800-31608200	Weak transcription	Gastric	stomach
15	chr22:31607800-31608400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr22:31607800-31608600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:31607800-31608600	Active TSS	Brain Angular Gyrus	brain
18	chr22:31607800-31608600	Active TSS	Fetal Brain Female	brain
19	chr22:31607800-31608800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:31607800-31608800	Active TSS	Aorta	Aorta
21	chr22:31607800-31608800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr22:31607800-31608800	Active TSS	Fetal Heart	heart
23	chr22:31607800-31608800	Active TSS	Ovary	ovary
24	chr22:31607800-31609000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31607800-31609000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:31607800-31609000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:31607800-31609000	Active TSS	Brain Germinal Matrix	brain
28	chr22:31607800-31609000	Active TSS	Left Ventricle	heart
29	chr22:31607800-31609200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr22:31607800-31609200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr22:31607800-31609200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:31607800-31609200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr22:31607800-31609200	Active TSS	A549	lung
34	chr22:31607800-31609400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr22:31607800-31609400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr22:31607800-31609600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr22:31607800-31609600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:31607800-31609600	Active TSS	Right Atrium	heart
39	chr22:31608000-31608200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr22:31608000-31608200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr22:31608000-31608200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr22:31608000-31608200	Weak transcription	Small Intestine	intestine
43	chr22:31608000-31608400	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr22:31608000-31608400	Active TSS	Primary hematopoietic stem cells	blood
45	chr22:31608000-31608400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:31608000-31608400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr22:31608000-31608400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:31608000-31608400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:31608000-31608400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:31608000-31608400	Active TSS	Adipose Nuclei	Adipose

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