Variant report

Variant	rs560097565
Chromosome Location	chr1:220701758-220701759
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	HA-E2F1	chr1:220701254-220702463	Hela-S3	cervix:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
2	POLR2A	chr1:220701468-220702261	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr1:220701159-220702829	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	CHD2	chr1:220701620-220701822	H1-hESC	embryonic stem cell:	n/a	n/a
6	HMGN3	chr1:220701561-220701923	K562	blood:	n/a	n/a
7	YY1	chr1:220701689-220702944	H1-hESC	embryonic stem cell:	n/a	chr1:220702036-220702045
8	TAF1	chr1:220701204-220702940	H1-neurons	neurons:	n/a	n/a
9	PAX5	chr1:220701398-220701803	GM12892	blood:	n/a	n/a
10	MAX	chr1:220701593-220702057	A549	lung:	n/a	n/a
11	POLR2A	chr1:220701333-220702025	GM15510	blood:	n/a	n/a
12	POLR2A	chr1:220701211-220701798	HEK293	kidney:	n/a	n/a
13	POLR2A	chr1:220701208-220702967	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr1:220701586-220701857	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr1:220701301-220702664	HCT-116	colon:	n/a	n/a
16	RAD21	chr1:220701723-220701954	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:220701473-220702156	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr1:220701634-220702304	SK-N-SH	brain:	n/a	n/a
19	MAX	chr1:220701384-220702019	ECC-1	luminal epithelium:	n/a	n/a
20	RCOR1	chr1:220701206-220701759	Hela-S3	cervix:	n/a	n/a
21	ZKSCAN1	chr1:220701686-220701942	Hela-S3	cervix:	n/a	n/a
22	YY1	chr1:220701734-220702438	GM12892	blood:	n/a	chr1:220702036-220702045
23	POLR2A	chr1:220701344-220702545	MCF10A-Er-Src	breast:	n/a	n/a
24	REST	chr1:220700828-220703377	H1-neurons	neurons:	n/a	chr1:220702035-220702048 chr1:220701723-220701730 chr1:220702290-220702303 chr1:220701544-220701557 chr1:220701528-220701541
25	MYC	chr1:220701351-220701918	MCF10A-Er-Src	breast:	n/a	n/a
26	ZBTB7A	chr1:220701688-220702591	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr1:220701284-220701988	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:220701386-220701854	Hela-S3	cervix:	n/a	n/a
29	TAF7	chr1:220701583-220702591	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:220701201-220702002	HCT-116	colon:	n/a	n/a
31	MAX	chr1:220701355-220702141	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:220701302-220702740	H1-hESC	embryonic stem cell:	n/a	n/a
33	SMARCB1	chr1:220701260-220702572	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:220701306-220702517	GM12892	blood:	n/a	n/a
35	UBTF	chr1:220701369-220701847	K562	blood:	n/a	n/a
36	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
37	FOXP2	chr1:220701271-220702021	PFSK-1	brain:	n/a	chr1:220701339-220701351
38	POLR2A	chr1:220701442-220701953	Hela-S3	cervix:	n/a	n/a
39	MAX	chr1:220701346-220702593	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:220701626-220702794	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:220701396-220702247	GM12892	blood:	n/a	n/a
42	YY1	chr1:220701726-220702582	SK-N-SH_RA	brain:	n/a	chr1:220702036-220702045
43	HA-E2F1	chr1:220701044-220702002	MCF-7	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
44	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:220701322-220702057	Gliobla	brain:	n/a	n/a
46	MAX	chr1:220700397-220701961	HCT-116	colon:	n/a	n/a
47	POLR2A	chr1:220701186-220703057	H1-neurons	neurons:	n/a	n/a
48	TAF1	chr1:220701259-220702701	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr1:220701491-220702021	MCF-7	breast:	n/a	n/a
50	E2F4	chr1:220701334-220702008	MCF10A-Er-Src	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526

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
ENSG00000170540	Chromatin interaction
ENSG00000260342	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:118 , 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	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
6	chr1:220700400-220702800	Active TSS	NHEK	skin
7	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
9	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
10	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
12	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
13	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:220700600-220701800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr1:220700600-220701800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr1:220700600-220701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:220700600-220702000	Active TSS	Brain Germinal Matrix	brain
19	chr1:220700600-220702800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:220700600-220702800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:220700600-220702800	Bivalent/Poised TSS	HSMM	muscle
22	chr1:220700600-220702800	Bivalent/Poised TSS	HSMMtube	muscle
23	chr1:220700600-220703000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:220700600-220703000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:220700600-220703000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:220700600-220703000	Active TSS	Psoas Muscle	Psoas
27	chr1:220700600-220703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:220700600-220703400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:220700600-220703400	Active TSS	Aorta	Aorta
30	chr1:220700600-220703600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:220700600-220703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:220700600-220703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:220700800-220702000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:220700800-220702000	Active TSS	Lung	lung
35	chr1:220700800-220702000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr1:220700800-220702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:220700800-220702600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:220700800-220702600	Active TSS	Fetal Lung	lung
39	chr1:220700800-220702600	Bivalent/Poised TSS	Thymus	Thymus
40	chr1:220700800-220702800	Active TSS	Colon Smooth Muscle	Colon
41	chr1:220700800-220703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:220700800-220703000	Active TSS	Esophagus	oesophagus
43	chr1:220700800-220703200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:220700800-220703200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:220700800-220703200	Active TSS	NHDF-Ad	bronchial
46	chr1:220700800-220703400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:220700800-220703400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:220700800-220703400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:220700800-220703400	Active TSS	Left Ventricle	heart
50	chr1:220700800-220703600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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