Variant report

Variant	rs530048328
Chromosome Location	chr1:220702150-220702151
allele	C/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	YY1	chr1:220701689-220702944	H1-hESC	embryonic stem cell:	n/a	chr1:220702036-220702045
6	YY1	chr1:220702024-220702279	GM12891	blood:	n/a	chr1:220702036-220702045
7	TAF1	chr1:220701204-220702940	H1-neurons	neurons:	n/a	n/a
8	YY1	chr1:220701838-220702761	SK-N-SH_RA	brain:	n/a	chr1:220702036-220702045
9	TAF1	chr1:220701794-220702466	SK-N-SH	brain:	n/a	n/a
10	YY1	chr1:220701920-220702310	GM12878	blood:	n/a	chr1:220702036-220702045
11	POLR2A	chr1:220701208-220702967	H1-neurons	neurons:	n/a	n/a
12	TCF7L2	chr1:220701301-220702664	HCT-116	colon:	n/a	n/a
13	GATA2	chr1:220702145-220703376	SH-SY5Y	brain:	n/a	chr1:220703202-220703210
14	JUND	chr1:220702127-220702537	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:220701473-220702156	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr1:220701634-220702304	SK-N-SH	brain:	n/a	n/a
17	YY1	chr1:220701935-220702620	NT2-D1	testis:	n/a	chr1:220702036-220702045
18	YY1	chr1:220701734-220702438	GM12892	blood:	n/a	chr1:220702036-220702045
19	POLR2A	chr1:220701344-220702545	MCF10A-Er-Src	breast:	n/a	n/a
20	REST	chr1:220700828-220703377	H1-neurons	neurons:	n/a	chr1:220702035-220702048 chr1:220701723-220701730 chr1:220702290-220702303 chr1:220701544-220701557 chr1:220701528-220701541
21	ZBTB7A	chr1:220701688-220702591	ECC-1	luminal epithelium:	n/a	n/a
22	SIN3AK20	chr1:220701835-220702192	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr1:220701760-220702646	H1-hESC	embryonic stem cell:	n/a	chr1:220702036-220702045
24	YY1	chr1:220702040-220702262	K562	blood:	n/a	n/a
25	YY1	chr1:220701974-220702309	A549	lung:	n/a	chr1:220702036-220702045
26	ZBTB7A	chr1:220701814-220702554	ECC-1	luminal epithelium:	n/a	n/a
27	REST	chr1:220702139-220702861	H1-neurons	neurons:	n/a	chr1:220702290-220702303
28	TAF7	chr1:220701583-220702591	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr1:220702026-220702310	GM12892	blood:	n/a	chr1:220702036-220702045
30	YY1	chr1:220701839-220702328	HepG2	liver:	n/a	chr1:220702036-220702045
31	POLR2A	chr1:220701302-220702740	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMARCB1	chr1:220701260-220702572	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:220701306-220702517	GM12892	blood:	n/a	n/a
34	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
35	MAX	chr1:220701346-220702593	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:220701626-220702794	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:220701396-220702247	GM12892	blood:	n/a	n/a
38	YY1	chr1:220701726-220702582	SK-N-SH_RA	brain:	n/a	chr1:220702036-220702045
39	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:220701186-220703057	H1-neurons	neurons:	n/a	n/a
41	TAF1	chr1:220701259-220702701	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr1:220701972-220702691	SK-N-SH	brain:	n/a	chr1:220702036-220702045
43	MAX	chr1:220701250-220702396	Hela-S3	cervix:	n/a	n/a
44	TBP	chr1:220701194-220702873	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr1:220702021-220702511	Hela-S3	cervix:	n/a	n/a
46	CTBP2	chr1:220701293-220702525	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIN3A	chr1:220700587-220702907	H1-hESC	embryonic stem cell:	n/a	chr1:220701533-220701544 chr1:220702053-220702066 chr1:220700821-220700832
48	YY1	chr1:220701921-220702302	HCT-116	colon:	n/a	chr1:220702036-220702045
49	SPI1	chr1:220701787-220702191	HL-60	blood:	n/a	n/a
50	JUND	chr1:220702114-220702259	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MARK1	TF binding region

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220700200-220703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:220700200-220704600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
4	chr1:220700400-220702800	Active TSS	NHEK	skin
5	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
7	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
8	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
10	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
11	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:220700600-220702800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:220700600-220702800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:220700600-220702800	Bivalent/Poised TSS	HSMM	muscle
16	chr1:220700600-220702800	Bivalent/Poised TSS	HSMMtube	muscle
17	chr1:220700600-220703000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:220700600-220703000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:220700600-220703000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:220700600-220703000	Active TSS	Psoas Muscle	Psoas
21	chr1:220700600-220703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:220700600-220703400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:220700600-220703400	Active TSS	Aorta	Aorta
24	chr1:220700600-220703600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:220700600-220703600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:220700600-220703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:220700800-220702600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:220700800-220702600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:220700800-220702600	Active TSS	Fetal Lung	lung
30	chr1:220700800-220702600	Bivalent/Poised TSS	Thymus	Thymus
31	chr1:220700800-220702800	Active TSS	Colon Smooth Muscle	Colon
32	chr1:220700800-220703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:220700800-220703000	Active TSS	Esophagus	oesophagus
34	chr1:220700800-220703200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:220700800-220703200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:220700800-220703200	Active TSS	NHDF-Ad	bronchial
37	chr1:220700800-220703400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:220700800-220703400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:220700800-220703400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:220700800-220703400	Active TSS	Left Ventricle	heart
41	chr1:220700800-220703600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:220700800-220703800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:220700800-220704400	Active TSS	Fetal Brain Male	brain
44	chr1:220701000-220702200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:220701000-220702200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:220701000-220702200	Active TSS	Fetal Muscle Trunk	muscle
47	chr1:220701000-220702200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:220701000-220702200	Active TSS	NH-A	brain
49	chr1:220701000-220702200	Active TSS	NHLF	lung
50	chr1:220701000-220702400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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