Variant report

Variant	rs55635245
Chromosome Location	chr1:211848807-211848808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:211848762-211849002	A549	lung:	n/a	n/a
2	MTA3	chr1:211848476-211849113	GM12878	blood:	n/a	n/a
3	MAZ	chr1:211848705-211849545	K562	blood:	n/a	n/a
4	NFYB	chr1:211848682-211849351	K562	blood:	n/a	chr1:211849019-211849034 chr1:211849022-211849032 chr1:211849023-211849035 chr1:211849020-211849034 chr1:211849019-211849034 chr1:211849021-211849036 chr1:211849022-211849032
5	POLR2A	chr1:211848610-211849407	Hela-S3	cervix:	n/a	n/a
6	NFYB	chr1:211848803-211849328	Hela-S3	cervix:	n/a	chr1:211849019-211849034 chr1:211849022-211849032 chr1:211849023-211849035 chr1:211849020-211849034 chr1:211849019-211849034 chr1:211849021-211849036 chr1:211849022-211849032
7	MAX	chr1:211848549-211849601	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUN	chr1:211848788-211849612	K562	blood:	n/a	chr1:211849021-211849030
9	TAF1	chr1:211848691-211849384	A549	lung:	n/a	n/a
10	SIN3AK20	chr1:211848409-211849536	PANC-1	pancreas:	n/a	n/a
11	E2F4	chr1:211847458-211849574	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr1:211848784-211849536	K562	blood:	n/a	n/a
13	HCFC1	chr1:211848373-211849725	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:211848601-211849625	HEK293	kidney:	n/a	n/a
15	TAF1	chr1:211848727-211849164	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:211848588-211849695	K562	blood:	n/a	n/a
17	MAX	chr1:211848635-211849581	K562	blood:	n/a	n/a
18	PML	chr1:211848565-211849597	K562	blood:	n/a	n/a
19	CBX3	chr1:211848433-211849994	K562	blood:	n/a	n/a
20	ATF1	chr1:211848548-211849523	K562	blood:	n/a	n/a
21	TBP	chr1:211848554-211849609	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr1:211848761-211849614	K562	blood:	n/a	chr1:211849012-211849033 chr1:211849138-211849149
23	POLR2A	chr1:211848655-211849153	HepG2	liver:	n/a	n/a
24	NFYB	chr1:211848556-211849463	GM12878	blood:	n/a	chr1:211849019-211849034 chr1:211849022-211849032 chr1:211849023-211849035 chr1:211849020-211849034 chr1:211849019-211849034 chr1:211849021-211849036 chr1:211849022-211849032
25	SIN3A	chr1:211848400-211849608	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:211848760-211849017	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:211848721-211849225	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr1:211848676-211849352	PANC-1	pancreas:	n/a	n/a
29	MAX	chr1:211848540-211849601	ECC-1	luminal epithelium:	n/a	n/a
30	IRF1	chr1:211848543-211849539	K562	blood:	n/a	chr1:211849023-211849032
31	SIN3AK20	chr1:211848721-211849519	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr1:211848726-211849052	K562	blood:	n/a	n/a
33	POLR2A	chr1:211848663-211849325	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:211848703-211849113	GM10847	blood:	n/a	n/a
35	NFIC	chr1:211848702-211849342	GM12878	blood:	n/a	n/a
36	TAF1	chr1:211848491-211849521	K562	blood:	n/a	n/a
37	E2F6	chr1:211848790-211849422	K562	blood:	n/a	n/a
38	MXI1	chr1:211848683-211849552	K562	blood:	n/a	n/a
39	STAT5A	chr1:211848725-211849629	K562	blood:	n/a	n/a
40	FOSL2	chr1:211848758-211849605	HepG2	liver:	n/a	chr1:211849021-211849030
41	MAX	chr1:211848570-211849562	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr1:211848579-211849399	U87	brain:	n/a	n/a
43	POLR2A	chr1:211848709-211849030	A549	lung:	n/a	n/a
44	TCF7L2	chr1:211848664-211849555	HCT-116	colon:	n/a	n/a
45	ZNF143	chr1:211848664-211849474	K562	blood:	n/a	n/a
46	MYC	chr1:211848721-211849604	K562	blood:	n/a	n/a
47	MAX	chr1:211848678-211849576	Hela-S3	cervix:	n/a	n/a
48	MYC	chr1:211848640-211849578	K562	blood:	n/a	n/a
49	POLR2A	chr1:211848487-211849563	Hela-S3	cervix:	n/a	n/a
50	PAX5	chr1:211848788-211849228	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211848764-211848814	HCT-116	colon:	n/a
2	chr1:211848764-211848814	HCPEpiC	choroid plexus:	n/a
3	chr1:211848760-211848810	HCM	heart:	n/a
4	chr1:211848764-211848814	LNCaP	prostate:	n/a
5	chr1:211848760-211848810	HL-60	blood:	n/a
6	chr1:211848764-211848814	NB4	blood:	n/a
7	chr1:211848764-211848814	HEK293	kidney:	embryo
8	chr1:211848760-211848810	SK-N-SH_RA	brain:	n/a
9	chr1:211848760-211848810	ovcar-3	ovarian:	n/a
10	chr1:211848764-211848814	HUVEC	blood vessel:	n/a
11	chr1:211848764-211848814	AG04450	lung:	fetal
12	chr1:211848764-211848814	PANC-1	pancreas:	n/a
13	chr1:211848764-211848814	RPTEC	kidney:	n/a
14	chr1:211848764-211848814	AG10803	skin:	n/a
15	chr1:211848764-211848814	Caco-2	colon:	n/a
16	chr1:211848760-211848810	NHDF-neo	bronchial:	n/a
17	chr1:211848760-211848810	PrEC	prostate:	n/a
18	chr1:211848764-211848814	ProgFib	skin:	n/a
19	chr1:211848764-211848814	U87	brain:	n/a
20	chr1:211848760-211848810	H1-hESC	embryonic stem cell:	embryo
21	chr1:211848760-211848810	HepG2	liver:	n/a
22	chr1:211848760-211848810	HRPEpiC	eye:	n/a
23	chr1:211848760-211848810	HRE	kidney:	n/a
24	chr1:211848760-211848810	Caco-2	colon:	n/a
25	chr1:211848760-211848810	K562	blood:	n/a
26	chr1:211848764-211848814	NHBE	bronchial:	n/a
27	chr1:211848760-211848810	HIPEpiC	eye:	n/a
28	chr1:211848760-211848810	SK-N-MC	brain:	n/a
29	chr1:211848764-211848814	HAEpiC	amniotic membrane:	n/a
30	chr1:211848764-211848814	PFSK-1	brain:	n/a
31	chr1:211848760-211848810	ECC-1	luminal epithelium:	n/a
32	chr1:211848760-211848810	AG09319	gingival:	n/a
33	chr1:211848760-211848810	A549	lung:	n/a
34	chr1:211848764-211848814	NH-A	brain:	n/a
35	chr1:211848764-211848814	GM12878	blood:	n/a
36	chr1:211848760-211848810	NHBE	bronchial:	n/a
37	chr1:211848764-211848814	NT2-D1	testis:	n/a
38	chr1:211848760-211848810	AG04449	skin:	fetal
39	chr1:211848764-211848814	HRCEpiC	kidney:	n/a
40	chr1:211848764-211848814	SAEC	small airway:	n/a
41	chr1:211848764-211848814	HNPCEpiC	eye:	n/a
42	chr1:211848764-211848814	ECC-1	luminal epithelium:	n/a
43	chr1:211848764-211848814	SKMC	muscle:	n/a
44	chr1:211848764-211848814	HepG2	liver:	n/a
45	chr1:211848760-211848810	PFSK-1	brain:	n/a
46	chr1:211848760-211848810	IMR90	lung:	fetal
47	chr1:211848764-211848814	GM12892	blood:	n/a
48	chr1:211848764-211848814	GM19239	blood:	n/a
49	chr1:211848760-211848810	HCT-116	colon:	n/a
50	chr1:211848760-211848810	GM06990	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
2	chr1:211736674..211739531-chr1:211847084..211848830,2	K562	blood:
3	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
4	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:

No data

Variant related genes	Relation type
NEK2	TF binding region
ENSG00000231057	TF binding region
NEK2	CpG island
ENSG00000231057	CpG island
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000170385	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17653513	1.00[AFR][1000 genomes]
rs61828229	0.80[AMR][1000 genomes]
rs61828232	0.83[AMR][1000 genomes]
rs61828233	0.81[AMR][1000 genomes]
rs61828236	0.83[AMR][1000 genomes]
rs61828237	0.83[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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211847600-211849400	Flanking Active TSS	HUVEC	blood vessel
2	chr1:211847600-211850000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:211847600-211850000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:211847600-211850000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:211847800-211849600	Active TSS	Fetal Kidney	kidney
6	chr1:211847800-211849600	Active TSS	NHDF-Ad	bronchial
7	chr1:211847800-211849800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:211848000-211849000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:211848000-211849600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:211848000-211849600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:211848000-211849600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:211848000-211849600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:211848000-211849800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:211848000-211849800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:211848200-211849200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:211848200-211849400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:211848200-211849600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:211848200-211849600	Flanking Active TSS	Placenta	Placenta
19	chr1:211848200-211849600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:211848200-211849800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr1:211848200-211849800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:211848200-211849800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:211848200-211849800	Active TSS	Fetal Intestine Large	intestine
24	chr1:211848200-211849800	Active TSS	A549	lung
25	chr1:211848200-211849800	Active TSS	K562	blood
26	chr1:211848200-211850000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:211848200-211850000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:211848200-211850000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:211848400-211849000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:211848400-211849000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:211848400-211849000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr1:211848400-211849200	Active TSS	GM12878-XiMat	blood
33	chr1:211848400-211849400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:211848400-211849400	Active TSS	Small Intestine	intestine
35	chr1:211848400-211849600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:211848400-211849600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:211848400-211849600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr1:211848400-211849600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:211848400-211849600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr1:211848400-211849600	Flanking Active TSS	Liver	Liver
41	chr1:211848400-211849600	Active TSS	Brain Substantia Nigra	brain
42	chr1:211848400-211849600	Active TSS	Colon Smooth Muscle	Colon
43	chr1:211848400-211849600	Active TSS	Esophagus	oesophagus
44	chr1:211848400-211849600	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr1:211848400-211849600	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:211848400-211849600	Active TSS	NH-A	brain
47	chr1:211848400-211849800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:211848400-211849800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:211848400-211849800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:211848400-211849800	Active TSS	Hela-S3	cervix

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