Variant report

Variant	rs3761435
Chromosome Location	chr22:32870574-32870575
allele	A/G
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	NRF1	chr22:32870500-32870740	HepG2	liver:	n/a	chr22:32870644-32870658 chr22:32870644-32870655 chr22:32870646-32870655 chr22:32870644-32870655 chr22:32870685-32870694 chr22:32870641-32870655
2	GTF2F1	chr22:32870441-32870823	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr22:32870306-32871515	ProgFib	skin:	n/a	n/a
4	TAF1	chr22:32870483-32871428	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	POLR2A	chr22:32870404-32872124	PBDE	blood:	n/a	n/a
7	HDAC2	chr22:32870422-32871419	HepG2	liver:	n/a	n/a
8	MYC	chr22:32870531-32870860	MCF10A-Er-Src	breast:	n/a	n/a
9	PAX5	chr22:32870564-32870833	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:32870341-32871415	A549	lung:	n/a	n/a
11	CREB1	chr22:32870450-32871424	GM12878	blood:	n/a	n/a
12	YY1	chr22:32870539-32870810	HCT-116	colon:	n/a	chr22:32870660-32870674 chr22:32870647-32870661
13	POLR2A	chr22:32870562-32870965	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr22:32870414-32871787	GM15510	blood:	n/a	n/a
16	POLR2A	chr22:32870344-32871543	HUVEC	blood vessel:	n/a	n/a
17	PAX5	chr22:32870552-32871416	GM12892	blood:	n/a	n/a
18	SRF	chr22:32870332-32871048	MCF-7	breast:	n/a	chr22:32870787-32870797
19	POLR2A	chr22:32870287-32871402	PANC-1	pancreas:	n/a	n/a
20	JUND	chr22:32870474-32871625	H1-hESC	embryonic stem cell:	n/a	chr22:32871387-32871394 chr22:32871384-32871395
21	TAF1	chr22:32870568-32871389	K562	blood:	n/a	n/a
22	POU2F2	chr22:32870484-32871155	GM12878	blood:	n/a	chr22:32871116-32871128
23	TCF7L2	chr22:32870456-32871421	HCT-116	colon:	n/a	n/a
24	MAX	chr22:32870557-32871729	K562	blood:	n/a	n/a
25	MAX	chr22:32870348-32871288	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:32870470-32871532	K562	blood:	n/a	n/a
27	POLR2A	chr22:32870386-32871662	NB4	blood:	n/a	n/a
28	POLR2A	chr22:32870392-32871559	HL-60	blood:	n/a	n/a
29	POLR2A	chr22:32870341-32871844	Hela-S3	cervix:	n/a	n/a
30	SIN3A	chr22:32870412-32871848	H1-hESC	embryonic stem cell:	n/a	chr22:32871125-32871136 chr22:32871166-32871177
31	TAF1	chr22:32870346-32871012	H1-neurons	neurons:	n/a	n/a
32	SRF	chr22:32870384-32871048	MCF-7	breast:	n/a	chr22:32870787-32870797
33	POLR2A	chr22:32869651-32871612	HepG2	liver:	n/a	n/a
34	TAF1	chr22:32870371-32871498	ECC-1	luminal epithelium:	n/a	n/a
35	SIN3A	chr22:32870406-32872353	GM12878	blood:	n/a	chr22:32871125-32871136 chr22:32871166-32871177
36	ELF1	chr22:32870499-32871432	K562	blood:	n/a	chr22:32870951-32870960 chr22:32870950-32870961 chr22:32870950-32870959 chr22:32871116-32871128
37	SIN3AK20	chr22:32870186-32871595	MCF-7	breast:	n/a	n/a
38	POLR2A	chr22:32870336-32871532	GM12878	blood:	n/a	n/a
39	PML	chr22:32870507-32870968	K562	blood:	n/a	n/a
40	SP4	chr22:32870572-32870861	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr22:32870421-32871856	GM12878	blood:	n/a	n/a
42	NR2F2	chr22:32870438-32871061	MCF-7	breast:	n/a	n/a
43	MAX	chr22:32870505-32871817	NB4	blood:	n/a	n/a
44	JUND	chr22:32870256-32872166	SK-N-SH	brain:	n/a	chr22:32871387-32871394 chr22:32871384-32871395 chr22:32871751-32871760
45	E2F4	chr22:32870513-32870876	MCF10A-Er-Src	breast:	n/a	chr22:32870678-32870693 chr22:32870645-32870654
46	TAF7	chr22:32870493-32871242	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFIC	chr22:32870407-32870927	HepG2	liver:	n/a	n/a
48	ELF1	chr22:32870333-32871487	MCF-7	breast:	n/a	chr22:32870951-32870960 chr22:32870950-32870961 chr22:32870950-32870959 chr22:32871116-32871128
49	RCOR1	chr22:32870460-32870962	HepG2	liver:	n/a	n/a
50	TAF1	chr22:32870417-32871116	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32870567-32870617	HIPEpiC	eye:	n/a
2	chr22:32870551-32870601	Caco-2	colon:	n/a
3	chr22:32870551-32870601	NHDF-neo	bronchial:	n/a
4	chr22:32870567-32870617	T-47D	breast:	n/a
5	chr22:32870567-32870617	Hela-S3	cervix:	n/a
6	chr22:32870557-32870607	NH-A	brain:	n/a
7	chr22:32870551-32870601	AG04449	skin:	fetal
8	chr22:32870551-32870601	HUVEC	blood vessel:	n/a
9	chr22:32870551-32870601	IMR90	lung:	fetal
10	chr22:32870557-32870607	SK-N-MC	brain:	n/a
11	chr22:32870567-32870617	NHBE	bronchial:	n/a
12	chr22:32870551-32870601	GM19239	blood:	n/a
13	chr22:32870557-32870607	GM06990	blood:	n/a
14	chr22:32870557-32870607	NHDF-neo	bronchial:	n/a
15	chr22:32870567-32870617	NB4	blood:	n/a
16	chr22:32870557-32870607	HCF	heart:	n/a
17	chr22:32870557-32870607	SAEC	small airway:	n/a
18	chr22:32870551-32870601	MCF-7	breast:	n/a
19	chr22:32870567-32870617	IMR90	lung:	fetal
20	chr22:32870557-32870607	A549	lung:	n/a
21	chr22:32870567-32870617	GM12878	blood:	n/a
22	chr22:32870567-32870617	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:32870567-32870617	CMK	blood:	n/a
24	chr22:32870557-32870607	HEK293	kidney:	embryo
25	chr22:32870557-32870607	AG10803	skin:	n/a
26	chr22:32870551-32870601	CMK	blood:	n/a
27	chr22:32870567-32870617	RPTEC	kidney:	n/a
28	chr22:32870567-32870617	PrEC	prostate:	n/a
29	chr22:32870557-32870607	AG09319	gingival:	n/a
30	chr22:32870557-32870607	HEEpiC	esophagus:	n/a
31	chr22:32870567-32870617	HCT-116	colon:	n/a
32	chr22:32870567-32870617	GM12892	blood:	n/a
33	chr22:32870567-32870617	HCM	heart:	n/a
34	chr22:32870557-32870607	ECC-1	luminal epithelium:	n/a
35	chr22:32870567-32870617	GM12891	blood:	n/a
36	chr22:32870567-32870617	BE2_C	brain:	n/a
37	chr22:32870567-32870617	NHDF-neo	bronchial:	n/a
38	chr22:32870551-32870601	HCPEpiC	choroid plexus:	n/a
39	chr22:32870551-32870601	NT2-D1	testis:	n/a
40	chr22:32870567-32870617	MCF10A-Er-Src	breast:	n/a
41	chr22:32870567-32870617	HNPCEpiC	eye:	n/a
42	chr22:32870557-32870607	HNPCEpiC	eye:	n/a
43	chr22:32870557-32870607	SK-N-SH	brain:	n/a
44	chr22:32870551-32870601	HMEC	breast:	n/a
45	chr22:32870567-32870617	MCF-7	breast:	n/a
46	chr22:32870551-32870601	AG09319	gingival:	n/a
47	chr22:32870551-32870601	HAEpiC	amniotic membrane:	n/a
48	chr22:32870567-32870617	H1-hESC	embryonic stem cell:	embryo
49	chr22:32870551-32870601	AG10803	skin:	n/a
50	chr22:32870551-32870601	HCT-116	colon:	n/a

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
FBXO7	CpG island
ENSG00000230866	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000234479	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12628767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749452	0.91[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs5994572	0.81[CHB][hapmap]
rs5994573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5998510	0.96[ASN][1000 genomes]
rs72620410	0.87[EUR][1000 genomes]
rs7292178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32869400-32870600	Enhancers	Fetal Heart	heart
2	chr22:32869600-32870600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr22:32869600-32873200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:32869800-32870600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr22:32869800-32870600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr22:32869800-32870600	Flanking Active TSS	Liver	Liver
7	chr22:32869800-32871800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr22:32869800-32872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:32869800-32872200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:32869800-32872600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr22:32869800-32872800	Active TSS	Fetal Kidney	kidney
12	chr22:32869800-32873000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr22:32869800-32873800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:32870000-32870600	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr22:32870000-32870600	Flanking Active TSS	HUVEC	blood vessel
16	chr22:32870000-32871600	Active TSS	Brain Germinal Matrix	brain
17	chr22:32870000-32872000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:32870000-32872000	Active TSS	Gastric	stomach
19	chr22:32870000-32872600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr22:32870000-32872600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:32870000-32872800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:32870000-32872800	Active TSS	NHDF-Ad	bronchial
23	chr22:32870000-32873200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr22:32870000-32873200	Active TSS	Right Atrium	heart
25	chr22:32870000-32873600	Active TSS	Brain Hippocampus Middle	brain
26	chr22:32870000-32874200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:32870200-32870600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:32870200-32870600	Flanking Active TSS	Esophagus	oesophagus
29	chr22:32870200-32870800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:32870200-32871000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:32870200-32871000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:32870200-32871600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
33	chr22:32870200-32871800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:32870200-32871800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr22:32870200-32871800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr22:32870200-32871800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:32870200-32871800	Active TSS	Brain Anterior Caudate	brain
38	chr22:32870200-32871800	Active TSS	Brain Cingulate Gyrus	brain
39	chr22:32870200-32871800	Active TSS	Fetal Lung	lung
40	chr22:32870200-32872000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:32870200-32872000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:32870200-32872000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr22:32870200-32872000	Active TSS	Left Ventricle	heart
44	chr22:32870200-32872000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr22:32870200-32872000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr22:32870200-32872000	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr22:32870200-32872000	Active TSS	Small Intestine	intestine
48	chr22:32870200-32872200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr22:32870200-32872200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:32870200-32872200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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