Variant report

Variant	rs11089530
Chromosome Location	chr22:32211450-32211451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:32211374-32211729	HepG2	liver:	n/a	n/a
2	HEY1	chr22:32211308-32211731	HepG2	liver:	n/a	n/a
3	RCOR1	chr22:32211397-32211650	HepG2	liver:	n/a	n/a
4	NFIC	chr22:32211204-32211771	HepG2	liver:	n/a	n/a
5	EP300	chr22:32211263-32211646	HepG2	liver:	n/a	n/a
6	CEBPB	chr22:32211405-32211625	IMR90	lung:	n/a	chr22:32211570-32211581
7	JUN	chr22:32211236-32211746	HepG2	liver:	n/a	chr22:32211567-32211580
8	MBD4	chr22:32211259-32211799	HepG2	liver:	n/a	n/a
9	EP300	chr22:32211207-32211827	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr22:32211363-32211717	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:32211341-32211606	HepG2	liver:	n/a	n/a
12	MBD4	chr22:32211221-32211737	HepG2	liver:	n/a	n/a
13	EP300	chr22:32211141-32211834	HepG2	liver:	n/a	n/a
14	RXRA	chr22:32211310-32211807	HepG2	liver:	n/a	n/a
15	CEBPD	chr22:32211296-32211687	HepG2	liver:	n/a	n/a
16	CEBPB	chr22:32211205-32211817	HepG2	liver:	n/a	chr22:32211570-32211581
17	POLR2A	chr22:32211378-32211684	HepG2	liver:	n/a	n/a
18	REST	chr22:32211340-32211795	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:32211321-32211665	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr22:32211355-32211782	HepG2	liver:	n/a	n/a
21	NFIC	chr22:32211336-32211747	HepG2	liver:	n/a	n/a
22	CEBPD	chr22:32211336-32211762	HepG2	liver:	n/a	n/a
23	MAZ	chr22:32211385-32211557	HepG2	liver:	n/a	n/a
24	HNF4A	chr22:32211213-32211838	HepG2	liver:	n/a	n/a
25	FOXA1	chr22:32211337-32211648	HepG2	liver:	n/a	n/a
26	MYBL2	chr22:32211101-32211962	HepG2	liver:	n/a	n/a
27	RXRA	chr22:32211217-32211789	HepG2	liver:	n/a	n/a
28	TEAD4	chr22:32211131-32211850	HepG2	liver:	n/a	n/a
29	HNF4G	chr22:32211187-32211835	HepG2	liver:	n/a	n/a
30	FOXA1	chr22:32211234-32211837	HepG2	liver:	n/a	n/a
31	ATF3	chr22:32211407-32211695	HepG2	liver:	n/a	n/a
32	SMC3	chr22:32211329-32211610	HepG2	liver:	n/a	n/a
33	JUND	chr22:32211371-32211757	HepG2	liver:	n/a	n/a
34	FOXA2	chr22:32211305-32211736	HepG2	liver:	n/a	n/a
35	POLR2A	chr22:32211394-32211564	HepG2	liver:	n/a	n/a
36	ARID3A	chr22:32211196-32211804	HepG2	liver:	n/a	n/a
37	MYC	chr22:32211428-32211681	HepG2	liver:	n/a	n/a
38	SP1	chr22:32211219-32211919	HepG2	liver:	n/a	n/a
39	JUND	chr22:32211318-32211751	HepG2	liver:	n/a	n/a
40	FOSL2	chr22:32211290-32211863	HepG2	liver:	n/a	n/a
41	FOSL2	chr22:32211248-32211778	HepG2	liver:	n/a	n/a
42	FOXA1	chr22:32211200-32211807	HepG2	liver:	n/a	n/a
43	HNF4A	chr22:32211353-32211817	HepG2	liver:	n/a	n/a
44	TCF12	chr22:32211270-32211747	HepG2	liver:	n/a	n/a
45	HNF4G	chr22:32211266-32211771	HepG2	liver:	n/a	n/a
46	MYBL2	chr22:32211184-32211865	HepG2	liver:	n/a	n/a
47	CEBPB	chr22:32210994-32211759	HepG2	liver:	n/a	chr22:32211570-32211581
48	HDAC2	chr22:32211182-32211733	HepG2	liver:	n/a	n/a
49	BHLHE40	chr22:32211333-32211761	HepG2	liver:	n/a	n/a
50	ZBTB33	chr22:32211254-32211804	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32211449-32211499	GM12892	blood:	n/a
2	chr22:32211449-32211499	ovcar-3	ovarian:	n/a
3	chr22:32211449-32211499	H1-hESC	embryonic stem cell:	embryo
4	chr22:32211449-32211499	HMEC	breast:	n/a
5	chr22:32211449-32211499	AG04450	lung:	fetal
6	chr22:32211449-32211499	BJ	skin:	n/a
7	chr22:32211449-32211499	AG09319	gingival:	n/a
8	chr22:32211449-32211499	RPTEC	kidney:	n/a
9	chr22:32211449-32211499	A549	lung:	n/a
10	chr22:32211449-32211499	NHDF-neo	bronchial:	n/a
11	chr22:32211449-32211499	IMR90	lung:	fetal
12	chr22:32211449-32211499	HRCEpiC	kidney:	n/a
13	chr22:32211449-32211499	HUVEC	blood vessel:	n/a
14	chr22:32211449-32211499	PFSK-1	brain:	n/a
15	chr22:32211449-32211499	GM19239	blood:	n/a
16	chr22:32211449-32211499	NHBE	bronchial:	n/a
17	chr22:32211449-32211499	HPAEpiC	pulmonary alveolar:	n/a
18	chr22:32211449-32211499	HCT-116	colon:	n/a
19	chr22:32211449-32211499	HNPCEpiC	eye:	n/a
20	chr22:32211449-32211499	GM12878	blood:	n/a
21	chr22:32211449-32211499	AG09309	skin:	n/a
22	chr22:32211449-32211499	PrEC	prostate:	n/a
23	chr22:32211449-32211499	SK-N-SH_RA	brain:	n/a
24	chr22:32211449-32211499	BE2_C	brain:	n/a
25	chr22:32211449-32211499	K562	blood:	n/a
26	chr22:32211449-32211499	MCF-7	breast:	n/a
27	chr22:32211449-32211499	Hela-S3	cervix:	n/a
28	chr22:32211449-32211499	ProgFib	skin:	n/a
29	chr22:32211449-32211499	SK-N-MC	brain:	n/a
30	chr22:32211449-32211499	U87	brain:	n/a
31	chr22:32211449-32211499	Caco-2	colon:	n/a
32	chr22:32211449-32211499	T-47D	breast:	n/a
33	chr22:32211449-32211499	PANC-1	pancreas:	n/a
34	chr22:32211449-32211499	HAEpiC	amniotic membrane:	n/a
35	chr22:32211449-32211499	Hepatocyte	liver:	n/a
36	chr22:32211449-32211499	AG04449	skin:	fetal
37	chr22:32211449-32211499	NT2-D1	testis:	n/a
38	chr22:32211449-32211499	HIPEpiC	eye:	n/a
39	chr22:32211449-32211499	HEEpiC	esophagus:	n/a
40	chr22:32211449-32211499	ECC-1	luminal epithelium:	n/a
41	chr22:32211449-32211499	HL-60	blood:	n/a
42	chr22:32211449-32211499	LNCaP	prostate:	n/a
43	chr22:32211449-32211499	HCM	heart:	n/a
44	chr22:32211449-32211499	HRPEpiC	eye:	n/a
45	chr22:32211449-32211499	HRE	kidney:	n/a
46	chr22:32211449-32211499	NB4	blood:	n/a
47	chr22:32211449-32211499	NH-A	brain:	n/a
48	chr22:32211449-32211499	CMK	blood:	n/a
49	chr22:32211449-32211499	HEK293	kidney:	embryo
50	chr22:32211449-32211499	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32209591..32211709-chr22:32214663..32216477,2	K562	blood:
2	chr22:32205436..32207508-chr22:32210760..32212655,2	K562	blood:

No data

Variant related genes	Relation type
DEPDC5	TF binding region
DEPDC5	CpG island
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1013703	0.93[ASN][1000 genomes]
rs11089531	0.94[AMR][1000 genomes]
rs11703040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703104	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703275	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703810	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703854	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704362	0.93[ASN][1000 genomes]
rs11704377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705097	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705329	0.93[ASN][1000 genomes]
rs12157989	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12159673	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160120	0.87[ASN][1000 genomes]
rs131222	0.87[ASN][1000 genomes]
rs131224	0.87[ASN][1000 genomes]
rs131226	0.87[ASN][1000 genomes]
rs131228	0.87[ASN][1000 genomes]
rs131235	0.87[ASN][1000 genomes]
rs131237	0.87[ASN][1000 genomes]
rs131241	0.93[ASN][1000 genomes]
rs131243	0.93[ASN][1000 genomes]
rs131246	0.93[ASN][1000 genomes]
rs131251	0.93[ASN][1000 genomes]
rs131252	0.93[ASN][1000 genomes]
rs131254	0.93[ASN][1000 genomes]
rs140079	0.87[ASN][1000 genomes]
rs140083	0.93[ASN][1000 genomes]
rs140085	0.93[ASN][1000 genomes]
rs16989529	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989540	0.82[AMR][1000 genomes]
rs2040981	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413058	0.93[ASN][1000 genomes]
rs4603881	0.93[ASN][1000 genomes]
rs55645350	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699591	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994424	0.87[ASN][1000 genomes]
rs5994435	0.94[AMR][1000 genomes]
rs5994436	0.96[AMR][1000 genomes]
rs5998093	0.87[ASN][1000 genomes]
rs5998095	0.87[ASN][1000 genomes]
rs5998098	0.87[ASN][1000 genomes]
rs5998099	0.87[ASN][1000 genomes]
rs5998103	0.87[ASN][1000 genomes]
rs5998113	0.93[ASN][1000 genomes]
rs5998114	0.93[ASN][1000 genomes]
rs5998116	0.93[ASN][1000 genomes]
rs5998123	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998133	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998144	0.82[AMR][1000 genomes]
rs5998161	0.84[AMR][1000 genomes]
rs60136719	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60669705	0.87[ASN][1000 genomes]
rs61273982	0.93[ASN][1000 genomes]
rs62238893	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238895	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238904	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238906	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238934	0.88[AMR][1000 genomes]
rs62240515	0.93[ASN][1000 genomes]
rs62240684	0.87[ASN][1000 genomes]
rs62240686	0.87[ASN][1000 genomes]
rs62240687	0.87[ASN][1000 genomes]
rs7289259	0.93[ASN][1000 genomes]
rs7289535	0.81[ASN][1000 genomes]
rs7289702	0.88[AMR][1000 genomes]
rs7291898	1.00[ASN][1000 genomes]
rs73162139	0.93[ASN][1000 genomes]
rs740227	0.87[ASN][1000 genomes]
rs8141719	0.87[ASN][1000 genomes]
rs81946	0.87[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:32172800-32221000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:32175200-32213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:32187800-32222000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:32188000-32220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:32188600-32222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:32188800-32214200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:32189800-32225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:32192400-32242200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr22:32192800-32220000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:32193000-32250600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr22:32193200-32226800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr22:32193200-32228400	Strong transcription	Adipose Nuclei	Adipose
19	chr22:32193200-32246000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:32193200-32250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:32193400-32220200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:32196600-32224800	Weak transcription	Hela-S3	cervix
23	chr22:32197200-32214400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
25	chr22:32197400-32219800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:32199000-32213600	Weak transcription	K562	blood
27	chr22:32199000-32213800	Weak transcription	NHDF-Ad	bronchial
28	chr22:32200000-32213600	Weak transcription	Fetal Kidney	kidney
29	chr22:32200400-32214000	Weak transcription	Fetal Brain Male	brain
30	chr22:32201000-32214000	Weak transcription	Fetal Heart	heart
31	chr22:32201600-32213800	Weak transcription	A549	lung
32	chr22:32201600-32214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:32202400-32213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:32202800-32214000	Weak transcription	HMEC	breast
35	chr22:32203000-32212600	Weak transcription	Pancreas	Pancrea
36	chr22:32203000-32212800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:32203200-32216800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:32204800-32225800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:32205000-32219600	Strong transcription	Brain Hippocampus Middle	brain
40	chr22:32205000-32220000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:32205000-32228200	Strong transcription	Fetal Muscle Leg	muscle
42	chr22:32205000-32228600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:32205200-32214000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:32205200-32219200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:32205200-32225200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:32205200-32226600	Strong transcription	Fetal Thymus	thymus
47	chr22:32205200-32257600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:32206200-32219600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:32206400-32225600	Strong transcription	Left Ventricle	heart
50	chr22:32206600-32213000	Strong transcription	Aorta	Aorta

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