Variant report

Variant	rs192013258
Chromosome Location	chr1:220701335-220701336
allele	A/C
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	HA-E2F1	chr1:220701254-220702463	Hela-S3	cervix:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
2	TAF1	chr1:220701159-220702829	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr1:220701228-220702393	SK-N-SH	brain:	n/a	chr1:220701678-220701687 chr1:220701572-220701581 chr1:220702038-220702054 chr1:220702040-220702056 chr1:220701517-220701526 chr1:220701338-220701348
4	TAF1	chr1:220701204-220702940	H1-neurons	neurons:	n/a	n/a
5	MXI1	chr1:220701090-220701494	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:220701333-220702025	GM15510	blood:	n/a	n/a
7	POLR2A	chr1:220701211-220701798	HEK293	kidney:	n/a	n/a
8	POLR2A	chr1:220701208-220702967	H1-neurons	neurons:	n/a	n/a
9	YY1	chr1:220701255-220701672	GM12892	blood:	n/a	chr1:220701528-220701542 chr1:220701571-220701582 chr1:220701570-220701579 chr1:220701573-220701582 chr1:220701574-220701585
10	TCF7L2	chr1:220701301-220702664	HCT-116	colon:	n/a	n/a
11	TCF7L2	chr1:220700868-220701690	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr1:220700973-220701458	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:220701330-220701737	HUVEC	blood vessel:	n/a	n/a
14	RCOR1	chr1:220701206-220701759	Hela-S3	cervix:	n/a	n/a
15	KAP1	chr1:220700647-220701710	HEK293	kidney:	n/a	n/a
16	RAD21	chr1:220701317-220701645	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr1:220700828-220703377	H1-neurons	neurons:	n/a	chr1:220702035-220702048 chr1:220701723-220701730 chr1:220702290-220702303 chr1:220701544-220701557 chr1:220701528-220701541
18	MAX	chr1:220701284-220701988	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:220701322-220701369	HUVEC	blood vessel:	n/a	n/a
20	CEBPB	chr1:220700901-220701448	Hela-S3	cervix:	n/a	chr1:220700960-220700971
21	FOXA1	chr1:220701189-220701595	T-47D	breast:	n/a	chr1:220701339-220701351
22	ZNF143	chr1:220701296-220701506	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:220701201-220702002	HCT-116	colon:	n/a	n/a
24	NFIC	chr1:220701287-220701732	ECC-1	luminal epithelium:	n/a	n/a
25	YY1	chr1:220701308-220701717	SK-N-SH_RA	brain:	n/a	chr1:220701678-220701687 chr1:220701528-220701542 chr1:220701571-220701582 chr1:220701570-220701579 chr1:220701573-220701582 chr1:220701574-220701585
26	POLR2A	chr1:220701302-220702740	H1-hESC	embryonic stem cell:	n/a	n/a
27	SMARCB1	chr1:220701260-220702572	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:220701306-220702517	GM12892	blood:	n/a	n/a
29	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
30	FOXP2	chr1:220701271-220702021	PFSK-1	brain:	n/a	chr1:220701339-220701351
31	HA-E2F1	chr1:220701044-220702002	MCF-7	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
32	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr1:220701186-220701494	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:220701322-220702057	Gliobla	brain:	n/a	n/a
35	MAX	chr1:220700397-220701961	HCT-116	colon:	n/a	n/a
36	POLR2A	chr1:220701186-220703057	H1-neurons	neurons:	n/a	n/a
37	TAF1	chr1:220701259-220702701	H1-hESC	embryonic stem cell:	n/a	n/a
38	E2F4	chr1:220701334-220702008	MCF10A-Er-Src	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
39	MAX	chr1:220701250-220702396	Hela-S3	cervix:	n/a	n/a
40	TBP	chr1:220701194-220702873	H1-hESC	embryonic stem cell:	n/a	n/a
41	NRF1	chr1:220701242-220702079	SK-N-SH	brain:	n/a	chr1:220701529-220701538 chr1:220701517-220701526
42	CTBP2	chr1:220701293-220702525	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:220701156-220702136	HCT-116	colon:	n/a	n/a
44	SIN3A	chr1:220700587-220702907	H1-hESC	embryonic stem cell:	n/a	chr1:220701533-220701544 chr1:220702053-220702066 chr1:220700821-220700832
45	POLR2A	chr1:220701231-220702059	MCF10A-Er-Src	breast:	n/a	n/a
46	FOXA1	chr1:220701141-220701446	T-47D	breast:	n/a	chr1:220701339-220701351
47	E2F1	chr1:220701292-220702039	Hela-S3	cervix:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
48	ZNF263	chr1:220700316-220703260	HEK293-T-REx	kidney:	n/a	chr1:220702654-220702663 chr1:220701061-220701070
49	MAZ	chr1:220701147-220702063	Hela-S3	cervix:	n/a	n/a
50	YY1	chr1:220701271-220701658	SK-N-SH_RA	brain:	n/a	chr1:220701528-220701542 chr1:220701571-220701582 chr1:220701570-220701579 chr1:220701573-220701582 chr1:220701574-220701585

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220701321-220701371	AG09319	gingival:	n/a
2	chr1:220701321-220701371	GM12878	blood:	n/a
3	chr1:220701321-220701371	U87	brain:	n/a
4	chr1:220701321-220701371	PFSK-1	brain:	n/a
5	chr1:220701321-220701371	ECC-1	luminal epithelium:	n/a
6	chr1:220701321-220701371	NHDF-neo	bronchial:	n/a
7	chr1:220701321-220701371	HL-60	blood:	n/a
8	chr1:220701321-220701371	HCPEpiC	choroid plexus:	n/a
9	chr1:220701321-220701371	ovcar-3	ovarian:	n/a
10	chr1:220701321-220701371	GM19239	blood:	n/a
11	chr1:220701321-220701371	AG04449	skin:	fetal
12	chr1:220701321-220701371	HRE	kidney:	n/a
13	chr1:220701321-220701371	GM12892	blood:	n/a
14	chr1:220701321-220701371	A549	lung:	n/a
15	chr1:220701321-220701371	HMEC	breast:	n/a
16	chr1:220701321-220701371	GM06990	blood:	n/a
17	chr1:220701321-220701371	MCF10A-Er-Src	breast:	n/a
18	chr1:220701321-220701371	SK-N-SH_RA	brain:	n/a
19	chr1:220701321-220701371	HRCEpiC	kidney:	n/a
20	chr1:220701321-220701371	BJ	skin:	n/a
21	chr1:220701321-220701371	HRPEpiC	eye:	n/a
22	chr1:220701321-220701371	NT2-D1	testis:	n/a
23	chr1:220701321-220701371	CMK	blood:	n/a
24	chr1:220701321-220701371	HCF	heart:	n/a
25	chr1:220701321-220701371	SKMC	muscle:	n/a
26	chr1:220701321-220701371	HAEpiC	amniotic membrane:	n/a
27	chr1:220701321-220701371	MCF-7	breast:	n/a
28	chr1:220701321-220701371	HUVEC	blood vessel:	n/a
29	chr1:220701321-220701371	HEK293	kidney:	embryo
30	chr1:220701321-220701371	HCM	heart:	n/a
31	chr1:220701321-220701371	Jurkat	blood:	n/a
32	chr1:220701321-220701371	AoSMC	blood vessel:	n/a
33	chr1:220701321-220701371	HEEpiC	esophagus:	n/a
34	chr1:220701321-220701371	PrEC	prostate:	n/a
35	chr1:220701321-220701371	H1-hESC	embryonic stem cell:	embryo
36	chr1:220701321-220701371	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:220701321-220701371	AG09309	skin:	n/a
38	chr1:220701321-220701371	RPTEC	kidney:	n/a
39	chr1:220701321-220701371	NHBE	bronchial:	n/a
40	chr1:220701321-220701371	SAEC	small airway:	n/a
41	chr1:220701321-220701371	NB4	blood:	n/a
42	chr1:220701321-220701371	Caco-2	colon:	n/a
43	chr1:220701321-220701371	K562	blood:	n/a
44	chr1:220701321-220701371	NH-A	brain:	n/a
45	chr1:220701321-220701371	HIPEpiC	eye:	n/a
46	chr1:220701321-220701371	ProgFib	skin:	n/a
47	chr1:220701321-220701371	LNCaP	prostate:	n/a
48	chr1:220701321-220701371	PANC-1	pancreas:	n/a
49	chr1:220701321-220701371	AG10803	skin:	n/a
50	chr1:220701321-220701371	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220701157..220702134-chr16:18812580..18813304,2	Hela-S3	cervix:

Variant related genes	Relation type
MARK1	TF binding region
MARK1	CpG island
ENSG00000260342	Chromatin interaction
ENSG00000170540	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3350899	chr1:220700629-220702677	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220700200-220702000	Active TSS	Brain Hippocampus Middle	brain
2	chr1:220700200-220703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:220700200-220704600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:220700400-220701400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:220700400-220701600	Active TSS	Right Atrium	heart
6	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
8	chr1:220700400-220702800	Active TSS	NHEK	skin
9	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
11	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
12	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
14	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
15	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:220700600-220701400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
18	chr1:220700600-220701400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:220700600-220701800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr1:220700600-220701800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr1:220700600-220701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:220700600-220702000	Active TSS	Brain Germinal Matrix	brain
23	chr1:220700600-220702800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:220700600-220702800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:220700600-220702800	Bivalent/Poised TSS	HSMM	muscle
26	chr1:220700600-220702800	Bivalent/Poised TSS	HSMMtube	muscle
27	chr1:220700600-220703000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:220700600-220703000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:220700600-220703000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:220700600-220703000	Active TSS	Psoas Muscle	Psoas
31	chr1:220700600-220703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:220700600-220703400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:220700600-220703400	Active TSS	Aorta	Aorta
34	chr1:220700600-220703600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:220700600-220703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:220700600-220703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:220700800-220701400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr1:220700800-220701400	Active TSS	Fetal Heart	heart
39	chr1:220700800-220701400	Flanking Active TSS	HUVEC	blood vessel
40	chr1:220700800-220701600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:220700800-220701600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr1:220700800-220702000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr1:220700800-220702000	Active TSS	Lung	lung
44	chr1:220700800-220702000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:220700800-220702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:220700800-220702600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:220700800-220702600	Active TSS	Fetal Lung	lung
48	chr1:220700800-220702600	Bivalent/Poised TSS	Thymus	Thymus
49	chr1:220700800-220702800	Active TSS	Colon Smooth Muscle	Colon
50	chr1:220700800-220703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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