Variant report

Variant	rs111501892
Chromosome Location	chr1:220701553-220701554
allele	G/T
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	TAF1	chr1:220701204-220702940	H1-neurons	neurons:	n/a	n/a
6	PAX5	chr1:220701398-220701803	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:220701333-220702025	GM15510	blood:	n/a	n/a
8	POLR2A	chr1:220701211-220701798	HEK293	kidney:	n/a	n/a
9	POLR2A	chr1:220701208-220702967	H1-neurons	neurons:	n/a	n/a
10	YY1	chr1:220701255-220701672	GM12892	blood:	n/a	chr1:220701528-220701542 chr1:220701571-220701582 chr1:220701570-220701579 chr1:220701573-220701582 chr1:220701574-220701585
11	POLR2A	chr1:220701501-220701681	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr1:220701301-220702664	HCT-116	colon:	n/a	n/a
13	TCF7L2	chr1:220700868-220701690	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:220701330-220701737	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:220701473-220702156	MCF-7	breast:	n/a	n/a
16	MAX	chr1:220701384-220702019	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr1:220701206-220701759	Hela-S3	cervix:	n/a	n/a
18	KAP1	chr1:220700647-220701710	HEK293	kidney:	n/a	n/a
19	RAD21	chr1:220701317-220701645	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:220701417-220701612	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:220701490-220701608	MCF-7	breast:	n/a	n/a
22	MYC	chr1:220701494-220701692	H1-hESC	embryonic stem cell:	n/a	n/a
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	MAX	chr1:220701284-220701988	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOXA1	chr1:220701189-220701595	T-47D	breast:	n/a	chr1:220701339-220701351
28	POLR2A	chr1:220701386-220701854	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:220701201-220702002	HCT-116	colon:	n/a	n/a
30	MAX	chr1:220701355-220702141	SK-N-SH	brain:	n/a	n/a
31	NFIC	chr1:220701287-220701732	ECC-1	luminal epithelium:	n/a	n/a
32	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
33	FOSL1	chr1:220701411-220701742	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr1:220701452-220701570	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:220701302-220702740	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMARCB1	chr1:220701260-220702572	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:220701306-220702517	GM12892	blood:	n/a	n/a
38	UBTF	chr1:220701369-220701847	K562	blood:	n/a	n/a
39	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
40	FOXP2	chr1:220701271-220702021	PFSK-1	brain:	n/a	chr1:220701339-220701351
41	POLR2A	chr1:220701442-220701953	Hela-S3	cervix:	n/a	n/a
42	MAX	chr1:220701346-220702593	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:220701396-220702247	GM12892	blood:	n/a	n/a
44	CCNT2	chr1:220701495-220701612	K562	blood:	n/a	n/a
45	HA-E2F1	chr1:220701044-220702002	MCF-7	breast:	n/a	chr1:220701571-220701581 chr1:220701517-220701526
46	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:220701322-220702057	Gliobla	brain:	n/a	n/a
48	MAX	chr1:220700397-220701961	HCT-116	colon:	n/a	n/a
49	POLR2A	chr1:220701186-220703057	H1-neurons	neurons:	n/a	n/a
50	TAF1	chr1:220701259-220702701	H1-hESC	embryonic stem cell:	n/a	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
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:117 , 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	chr1:220700400-220701600	Active TSS	Right Atrium	heart
5	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
7	chr1:220700400-220702800	Active TSS	NHEK	skin
8	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
10	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
11	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
13	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
14	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:220700600-220701800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr1:220700600-220701800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr1:220700600-220701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:220700600-220702000	Active TSS	Brain Germinal Matrix	brain
20	chr1:220700600-220702800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:220700600-220702800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:220700600-220702800	Bivalent/Poised TSS	HSMM	muscle
23	chr1:220700600-220702800	Bivalent/Poised TSS	HSMMtube	muscle
24	chr1:220700600-220703000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:220700600-220703000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:220700600-220703000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:220700600-220703000	Active TSS	Psoas Muscle	Psoas
28	chr1:220700600-220703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:220700600-220703400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:220700600-220703400	Active TSS	Aorta	Aorta
31	chr1:220700600-220703600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:220700600-220703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:220700600-220703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:220700800-220701600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:220700800-220701600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr1:220700800-220702000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:220700800-220702000	Active TSS	Lung	lung
38	chr1:220700800-220702000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:220700800-220702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:220700800-220702600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:220700800-220702600	Active TSS	Fetal Lung	lung
42	chr1:220700800-220702600	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:220700800-220702800	Active TSS	Colon Smooth Muscle	Colon
44	chr1:220700800-220703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:220700800-220703000	Active TSS	Esophagus	oesophagus
46	chr1:220700800-220703200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:220700800-220703200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:220700800-220703200	Active TSS	NHDF-Ad	bronchial
49	chr1:220700800-220703400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:220700800-220703400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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