Variant report

Variant	rs59984926
Chromosome Location	chr1:47658996-47658997
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	MAX	chr1:47658524-47659125	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr1:47658609-47659027	MCF-7	breast:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658742-47658754 chr1:47658736-47658750
3	POLR2A	chr1:47657813-47659043	HepG2	liver:	n/a	n/a
4	YY1	chr1:47658424-47659050	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr1:47658413-47658999	K562	blood:	n/a	n/a
6	RAD21	chr1:47658510-47659008	MCF-7	breast:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
7	YY1	chr1:47658451-47659016	HepG2	liver:	n/a	n/a
8	CTCF	chr1:47658953-47658998	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr1:47658380-47659087	K562	blood:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
10	CTCF	chr1:47658966-47659048	GM19238	blood:	n/a	n/a
11	MYBL2	chr1:47657952-47659015	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:47657063-47659016	HepG2	liver:	n/a	n/a
13	RAD21	chr1:47658492-47659070	H1-hESC	embryonic stem cell:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
14	CBX3	chr1:47658423-47659028	K562	blood:	n/a	n/a
15	CTCF	chr1:47658945-47659042	GM13977	blood:	n/a	n/a
16	CTCF	chr1:47658250-47659139	A549	lung:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
17	RCOR1	chr1:47658531-47659010	K562	blood:	n/a	n/a
18	RAD21	chr1:47658513-47659081	A549	lung:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
19	MAX	chr1:47658323-47659146	H1-hESC	embryonic stem cell:	n/a	chr1:47658445-47658454
20	CTCF	chr1:47658376-47659119	HCT-116	colon:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
21	MXI1	chr1:47658568-47659123	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr1:47658530-47659220	H1-hESC	embryonic stem cell:	n/a	n/a
23	HEY1	chr1:47657039-47659059	HepG2	liver:	n/a	n/a
24	MAZ	chr1:47658245-47659026	HepG2	liver:	n/a	chr1:47658445-47658454
25	CTCF	chr1:47658960-47659110	GM12869	blood:	n/a	n/a
26	CTCF	chr1:47658326-47659015	K562	blood:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
27	TBL1XR1	chr1:47658265-47659005	K562	blood:	n/a	n/a
28	RAD21	chr1:47658422-47659091	ECC-1	luminal epithelium:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
29	SMC3	chr1:47658373-47659138	SK-N-SH	brain:	n/a	chr1:47658738-47658752
30	SIN3AK20	chr1:47658710-47659045	H1-hESC	embryonic stem cell:	n/a	n/a
31	SMC3	chr1:47658499-47659003	K562	blood:	n/a	chr1:47658738-47658752
32	MAX	chr1:47658345-47659036	A549	lung:	n/a	chr1:47658445-47658454
33	CTBP2	chr1:47658372-47659040	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr1:47658463-47659211	SK-N-SH	brain:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
35	FOXA1	chr1:47657981-47659061	HepG2	liver:	n/a	n/a
36	JUND	chr1:47658561-47659001	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr1:47658618-47659034	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr1:47658537-47659094	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF143	chr1:47658549-47659001	H1-hESC	embryonic stem cell:	n/a	chr1:47658966-47658985 chr1:47658814-47658832
40	RCOR1	chr1:47658075-47658998	HepG2	liver:	n/a	n/a
41	MYC	chr1:47658546-47659042	K562	blood:	n/a	n/a
42	RAD21	chr1:47658464-47659061	HepG2	liver:	n/a	chr1:47658737-47658756 chr1:47658742-47658752 chr1:47658738-47658747 chr1:47658738-47658752 chr1:47658514-47658527 chr1:47658742-47658754 chr1:47658736-47658750
43	CTCF	chr1:47658206-47659125	SK-N-SH	brain:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
44	SIN3A	chr1:47658356-47659119	H1-hESC	embryonic stem cell:	n/a	chr1:47658541-47658549
45	CTCF	chr1:47658375-47659033	GM19240	blood:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
46	SP1	chr1:47658638-47659099	H1-hESC	embryonic stem cell:	n/a	chr1:47658840-47658851 chr1:47658817-47658831
47	TEAD4	chr1:47658614-47659090	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:47658462-47659080	HCT-116	colon:	n/a	chr1:47658739-47658747 chr1:47658739-47658752 chr1:47658736-47658754 chr1:47658736-47658749 chr1:47658738-47658759 chr1:47658847-47658856 chr1:47658737-47658753
49	GABPA	chr1:47658296-47659028	K562	blood:	n/a	n/a
50	NR2F2	chr1:47658266-47659075	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47658726..47659269-chr1:47666287..47666915,2	K562	blood:
2	chr1:47658807..47661067-chr1:47798782..47801338,2	MCF-7	breast:
3	chr1:47644615..47645488-chr1:47658267..47659223,3	K562	blood:
4	chr1:47656717..47659062-chr1:47661249..47663518,2	K562	blood:
5	chr1:47658286..47659515-chr1:47727734..47729196,7	K562	blood:
6	chr1:47658315..47659140-chr1:47728181..47729215,5	MCF-7	breast:
7	chr1:47656858..47659851-chr1:47734619..47737417,2	K562	blood:

Variant related genes	Relation type
PDZK1IP1	TF binding region
ENSG00000224805	Chromatin interaction
ENSG00000225506	Chromatin interaction
ENSG00000162368	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11211493	1.00[AMR][1000 genomes]
rs11211518	1.00[AMR][1000 genomes]
rs12057442	1.00[AMR][1000 genomes]
rs12061831	1.00[AMR][1000 genomes]
rs12094830	1.00[AMR][1000 genomes]
rs12097707	1.00[AMR][1000 genomes]
rs2088998	1.00[AMR][1000 genomes]
rs58846358	1.00[AMR][1000 genomes]
rs58921777	1.00[AMR][1000 genomes]
rs6682932	1.00[AMR][1000 genomes]
rs72892699	1.00[AMR][1000 genomes]
rs72894542	1.00[AMR][1000 genomes]
rs72894554	1.00[AMR][1000 genomes]
rs72894556	1.00[AMR][1000 genomes]
rs72894561	1.00[AMR][1000 genomes]
rs72894566	1.00[AMR][1000 genomes]
rs72894577	1.00[AMR][1000 genomes]
rs72896510	1.00[AMR][1000 genomes]
rs72896513	1.00[AMR][1000 genomes]
rs7545862	1.00[AMR][1000 genomes]
rs8034132	1.00[AMR][1000 genomes]
rs9436428	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47652600-47659000	Enhancers	Fetal Intestine Small	intestine
2	chr1:47654600-47659200	Enhancers	Fetal Intestine Large	intestine
3	chr1:47655000-47659000	Enhancers	Lung	lung
4	chr1:47655000-47659200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:47655200-47659000	Enhancers	Adipose Nuclei	Adipose
6	chr1:47655400-47659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:47655600-47659000	Enhancers	Placenta	Placenta
8	chr1:47655600-47659000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:47655600-47659000	Enhancers	HSMMtube	muscle
10	chr1:47655600-47659200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:47655800-47659000	Enhancers	Esophagus	oesophagus
12	chr1:47656000-47659000	Enhancers	Stomach Mucosa	stomach
13	chr1:47656200-47660400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:47656400-47659000	Enhancers	Pancreas	Pancrea
15	chr1:47656600-47659000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:47656800-47659000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:47657000-47659000	Enhancers	Ovary	ovary
18	chr1:47657200-47659000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47657600-47659000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:47657600-47659400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:47657800-47659000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:47657800-47659000	Enhancers	Spleen	Spleen
23	chr1:47658000-47659000	Enhancers	Fetal Kidney	kidney
24	chr1:47658200-47659000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:47658200-47659000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:47658200-47659000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:47658200-47659000	Enhancers	Fetal Heart	heart
28	chr1:47658200-47659200	Enhancers	HUVEC	blood vessel
29	chr1:47658200-47659800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:47658400-47659000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr1:47658400-47659000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:47658400-47659000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:47658400-47659000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr1:47658400-47659000	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:47658400-47659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:47658400-47659000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:47658400-47659000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:47658400-47659000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:47658400-47659000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:47658400-47659000	Enhancers	Brain Substantia Nigra	brain
41	chr1:47658400-47659000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr1:47658400-47659000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr1:47658400-47659000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr1:47658400-47659000	Enhancers	Left Ventricle	heart
45	chr1:47658400-47659000	Enhancers	Right Atrium	heart
46	chr1:47658400-47659000	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr1:47658400-47659200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr1:47658600-47659000	Enhancers	A549	lung
49	chr1:47658600-47659400	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:47658600-47659600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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