Variant report

Variant	rs11538371
Chromosome Location	chr22:32870806-32870807
allele	C/T
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	GTF2F1	chr22:32870441-32870823	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:32870306-32871515	ProgFib	skin:	n/a	n/a
3	TAF1	chr22:32870483-32871428	GM12878	blood:	n/a	n/a
4	TCF12	chr22:32870638-32870914	GM12878	blood:	n/a	n/a
5	YY1	chr22:32870523-32871478	GM12878	blood:	n/a	chr22:32871195-32871209 chr22:32870929-32870938 chr22:32870660-32870674 chr22:32870647-32870661 chr22:32871125-32871136 chr22:32870974-32870985 chr22:32871338-32871358
6	CTCF	chr22:32870700-32870850	HRE	kidney:	n/a	chr22:32870765-32870778
7	POLR2A	chr22:32870404-32872124	PBDE	blood:	n/a	n/a
8	HDAC2	chr22:32870422-32871419	HepG2	liver:	n/a	n/a
9	CTCF	chr22:32870678-32870836	NHEK	skin:	n/a	chr22:32870765-32870778
10	MYC	chr22:32870531-32870860	MCF10A-Er-Src	breast:	n/a	n/a
11	PAX5	chr22:32870564-32870833	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:32870341-32871415	A549	lung:	n/a	n/a
13	CREB1	chr22:32870450-32871424	GM12878	blood:	n/a	n/a
14	YY1	chr22:32870539-32870810	HCT-116	colon:	n/a	chr22:32870660-32870674 chr22:32870647-32870661
15	POLR2A	chr22:32870562-32870965	K562	blood:	n/a	n/a
16	YY1	chr22:32870424-32871375	SK-N-SH_RA	brain:	n/a	chr22:32871195-32871209 chr22:32870929-32870938 chr22:32870660-32870674 chr22:32870647-32870661 chr22:32871125-32871136 chr22:32870974-32870985 chr22:32871338-32871358
17	POLR2A	chr22:32870414-32871787	GM15510	blood:	n/a	n/a
18	POLR2A	chr22:32870344-32871543	HUVEC	blood vessel:	n/a	n/a
19	PAX5	chr22:32870552-32871416	GM12892	blood:	n/a	n/a
20	ZNF143	chr22:32870591-32870883	K562	blood:	n/a	n/a
21	SRF	chr22:32870332-32871048	MCF-7	breast:	n/a	chr22:32870787-32870797
22	POLR2A	chr22:32870287-32871402	PANC-1	pancreas:	n/a	n/a
23	JUND	chr22:32870474-32871625	H1-hESC	embryonic stem cell:	n/a	chr22:32871387-32871394 chr22:32871384-32871395
24	TAF1	chr22:32870568-32871389	K562	blood:	n/a	n/a
25	POU2F2	chr22:32870484-32871155	GM12878	blood:	n/a	chr22:32871116-32871128
26	TCF7L2	chr22:32870456-32871421	HCT-116	colon:	n/a	n/a
27	MAX	chr22:32870557-32871729	K562	blood:	n/a	n/a
28	MAX	chr22:32870348-32871288	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr22:32870470-32871532	K562	blood:	n/a	n/a
30	POLR2A	chr22:32870386-32871662	NB4	blood:	n/a	n/a
31	CTCF	chr22:32870700-32870850	GM12865	blood:	n/a	chr22:32870765-32870778
32	ZBTB7A	chr22:32870594-32871440	K562	blood:	n/a	n/a
33	POLR2A	chr22:32870392-32871559	HL-60	blood:	n/a	n/a
34	POLR2A	chr22:32870341-32871844	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr22:32870623-32870883	Lung_OC	lung:	n/a	chr22:32870765-32870778
36	SIN3A	chr22:32870412-32871848	H1-hESC	embryonic stem cell:	n/a	chr22:32871125-32871136 chr22:32871166-32871177
37	TAF1	chr22:32870346-32871012	H1-neurons	neurons:	n/a	n/a
38	CTCF	chr22:32870720-32870870	HPAF	blood vessel:	n/a	chr22:32870765-32870778
39	SRF	chr22:32870384-32871048	MCF-7	breast:	n/a	chr22:32870787-32870797
40	CTCF	chr22:32870660-32870810	GM06990	blood:	n/a	chr22:32870765-32870778
41	POLR2A	chr22:32869651-32871612	HepG2	liver:	n/a	n/a
42	CTCF	chr22:32870740-32870890	HRPEpiC	eye:	n/a	chr22:32870765-32870778
43	TAF1	chr22:32870371-32871498	ECC-1	luminal epithelium:	n/a	n/a
44	SIN3A	chr22:32870406-32872353	GM12878	blood:	n/a	chr22:32871125-32871136 chr22:32871166-32871177
45	CTCF	chr22:32870700-32870850	HBMEC	blood vessel:	n/a	chr22:32870765-32870778
46	UBTF	chr22:32870576-32871583	K562	blood:	n/a	n/a
47	ELF1	chr22:32870499-32871432	K562	blood:	n/a	chr22:32870951-32870960 chr22:32870950-32870961 chr22:32870950-32870959 chr22:32871116-32871128
48	SIN3AK20	chr22:32870186-32871595	MCF-7	breast:	n/a	n/a
49	POLR2A	chr22:32870336-32871532	GM12878	blood:	n/a	n/a
50	CTCF	chr22:32870680-32870830	GM12871	blood:	n/a	chr22:32870765-32870778

No.	Distal block	Cell Line	Cell type
1	chr22:32857701..32860876-chr22:32869435..32872164,3	K562	blood:
2	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
3	22:32529813-32538538..22:32868055-32872511	K562	blood:
4	chr22:32340518..32342759-chr22:32869952..32872764,2	K562	blood:
5	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:
6	chr22:32870442..32872277-chr22:32872348..32874938,3	MCF-7	breast:
7	22:32284948-32287956..22:32868055-32872511	Hela-S3	cervix:
8	chr22:32806637..32808324-chr22:32870497..32872790,2	MCF-7	breast:
9	22:32513817-32522138..22:32868055-32872511	K562	blood:
10	22:32360288-32405313..22:32868055-32872511	K562	blood:
11	22:31936958-31958600..22:32868055-32872511	K562	blood:
12	chr22:32807562..32810232-chr22:32869269..32871220,2	K562	blood:
13	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:

Variant related genes	Relation type
FBXO7	TF binding region
ENSG00000184459	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000183531	Chromatin interaction

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

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

rs_ID	r²[population]
rs11703157	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11704047	0.81[AMR][1000 genomes]
rs11705637	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17771806	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61741510	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62241250	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62241251	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62241252	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62241253	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62241256	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62241257	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73170376	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73170400	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32869600-32873200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:32869800-32871800	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr22:32869800-32872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr22:32869800-32872200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr22:32869800-32872600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr22:32869800-32872800	Active TSS	Fetal Kidney	kidney
7	chr22:32869800-32873000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr22:32869800-32873800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:32870000-32871600	Active TSS	Brain Germinal Matrix	brain
10	chr22:32870000-32872000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:32870000-32872000	Active TSS	Gastric	stomach
12	chr22:32870000-32872600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr22:32870000-32872600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:32870000-32872800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:32870000-32872800	Active TSS	NHDF-Ad	bronchial
16	chr22:32870000-32873200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr22:32870000-32873200	Active TSS	Right Atrium	heart
18	chr22:32870000-32873600	Active TSS	Brain Hippocampus Middle	brain
19	chr22:32870000-32874200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:32870200-32871000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:32870200-32871000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:32870200-32871600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
23	chr22:32870200-32871800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:32870200-32871800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr22:32870200-32871800	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr22:32870200-32871800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:32870200-32871800	Active TSS	Brain Anterior Caudate	brain
28	chr22:32870200-32871800	Active TSS	Brain Cingulate Gyrus	brain
29	chr22:32870200-32871800	Active TSS	Fetal Lung	lung
30	chr22:32870200-32872000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:32870200-32872000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:32870200-32872000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:32870200-32872000	Active TSS	Left Ventricle	heart
34	chr22:32870200-32872000	Active TSS	Placenta Amnion	Placenta Amnion
35	chr22:32870200-32872000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr22:32870200-32872000	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr22:32870200-32872000	Active TSS	Small Intestine	intestine
38	chr22:32870200-32872200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:32870200-32872200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:32870200-32872200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:32870200-32872200	Active TSS	Colonic Mucosa	Colon
42	chr22:32870200-32872200	Active TSS	Colon Smooth Muscle	Colon
43	chr22:32870200-32872200	Active TSS	Psoas Muscle	Psoas
44	chr22:32870200-32872200	Bivalent/Poised TSS	HepG2	liver
45	chr22:32870200-32872200	Active TSS	HSMM	muscle
46	chr22:32870200-32872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:32870200-32872400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr22:32870200-32872400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:32870200-32872400	Active TSS	HSMMtube	muscle
50	chr22:32870200-32872600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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