Variant report

Variant	rs572369743
Chromosome Location	chr1:214453797-214453798
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	MAX	chr1:214453698-214454328	H1-hESC	embryonic stem cell:	n/a	chr1:214454214-214454224
2	JUND	chr1:214453410-214454768	K562	blood:	n/a	chr1:214453803-214453812
3	POLR2A	chr1:214453630-214455085	HUVEC	blood vessel:	n/a	n/a
4	SPI1	chr1:214453723-214454090	GM12878	blood:	n/a	chr1:214453833-214453840
5	MAX	chr1:214453615-214455498	K562	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
6	POLR2A	chr1:214453277-214455603	GM12878	blood:	n/a	n/a
7	SMARCB1	chr1:214453671-214455484	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr1:214453779-214455249	K562	blood:	n/a	chr1:214454894-214454903
9	MAX	chr1:214453537-214455686	HCT-116	colon:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
10	POLR2A	chr1:214453792-214455159	HepG2	liver:	n/a	n/a
11	TAF1	chr1:214453740-214453937	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:214453231-214455483	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:214453721-214455660	K562	blood:	n/a	n/a
14	POLR2A	chr1:214453697-214453912	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:214452722-214455704	HepG2	liver:	n/a	n/a
16	MAX	chr1:214453673-214455731	NB4	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
17	CTCF	chr1:214453682-214454169	K562	blood:	n/a	chr1:214453918-214453926
18	TEAD4	chr1:214453609-214454428	K562	blood:	n/a	n/a
19	SPI1	chr1:214453708-214454014	K562	blood:	n/a	chr1:214453833-214453840
20	WRNIP1	chr1:214453633-214454166	GM12878	blood:	n/a	n/a
21	NR2F2	chr1:214453687-214454220	K562	blood:	n/a	n/a
22	CTCF	chr1:214453680-214453830	HCM	heart:	n/a	n/a
23	TCF12	chr1:214453455-214454376	A549	lung:	n/a	n/a
24	POLR2A	chr1:214453185-214455767	K562	blood:	n/a	n/a
25	POLR2A	chr1:214453747-214455026	H1-neurons	neurons:	n/a	n/a
26	RUNX3	chr1:214453633-214455600	GM12878	blood:	n/a	n/a
27	MYC	chr1:214453775-214453984	HUVEC	blood vessel:	n/a	n/a
28	MAX	chr1:214453676-214455346	ECC-1	luminal epithelium:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
29	SPI1	chr1:214453691-214454049	GM12891	blood:	n/a	chr1:214453833-214453840
30	POLR2A	chr1:214453718-214453930	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:214453728-214454289	K562	blood:	n/a	n/a
32	SIN3A	chr1:214453724-214455328	H1-hESC	embryonic stem cell:	n/a	chr1:214454033-214454044
33	MXI1	chr1:214453333-214455966	IMR90	lung:	n/a	n/a
34	HEY1	chr1:214453635-214455568	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:214453648-214454874	K562	blood:	n/a	n/a
36	SPI1	chr1:214453747-214454136	HL-60	blood:	n/a	chr1:214453833-214453840
37	MYBL2	chr1:214453485-214454244	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:214453710-214455268	GM12892	blood:	n/a	n/a
39	HMGN3	chr1:214453754-214455191	K562	blood:	n/a	n/a
40	MAX	chr1:214453597-214455531	SK-N-SH	brain:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
41	MAX	chr1:214453507-214455579	A549	lung:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
42	MAX	chr1:214453414-214455690	A549	lung:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
43	SPI1	chr1:214453616-214454255	HL-60	blood:	n/a	chr1:214453833-214453840
44	POLR2A	chr1:214453615-214455553	K562	blood:	n/a	n/a
45	MYC	chr1:214453686-214455608	K562	blood:	n/a	chr1:214454214-214454224 chr1:214454955-214454962 chr1:214454954-214454963 chr1:214454954-214454963
46	HCFC1	chr1:214453724-214455517	K562	blood:	n/a	n/a
47	CTCF	chr1:214453760-214453910	AG04449	skin:	n/a	n/a
48	POLR2A	chr1:214453751-214455229	K562	blood:	n/a	n/a
49	POLR2A	chr1:214453099-214455655	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:214453750-214453910	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
2	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:
3	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
4	chr1:214453776..214454417-chr16:75657150..75657683,2	NB4	blood:
5	chr1:214452363..214454335-chr1:214775239..214777094,2	K562	blood:
6	chr1:214452237..214456498-chr1:214498464..214506870,12	MCF-7	breast:
7	chr1:214451440..214454352-chr1:214497231..214500800,3	K562	blood:

Variant related genes	Relation type
SMYD2	TF binding region
ENSG00000152104	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000117724	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	esv3366467	chr1:214453679-214455877	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214452200-214453800	Weak transcription	Gastric	stomach
2	chr1:214452400-214453800	Weak transcription	Psoas Muscle	Psoas
3	chr1:214452400-214454000	Weak transcription	Spleen	Spleen
4	chr1:214453000-214453800	Enhancers	Fetal Thymus	thymus
5	chr1:214453200-214453800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:214453200-214453800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:214453200-214453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:214453200-214453800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:214453200-214453800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:214453200-214453800	Flanking Active TSS	HepG2	liver
11	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:214453200-214454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:214453200-214455000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:214453200-214456000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:214453400-214453800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr1:214453400-214453800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr1:214453400-214453800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:214453400-214453800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr1:214453400-214453800	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr1:214453400-214453800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr1:214453400-214453800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:214453400-214453800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr1:214453400-214453800	Flanking Active TSS	A549	lung
27	chr1:214453400-214454000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:214453400-214454000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:214453400-214454000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr1:214453400-214454000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:214453400-214454000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:214453400-214454000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:214453400-214454000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:214453400-214454000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr1:214453400-214454000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:214453400-214454000	Flanking Active TSS	Fetal Heart	heart
37	chr1:214453400-214454000	Flanking Active TSS	Fetal Kidney	kidney
38	chr1:214453400-214454000	Flanking Active TSS	Fetal Lung	lung
39	chr1:214453400-214454000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:214453400-214454000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:214453400-214454200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:214453400-214454200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:214453400-214454200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:214453400-214454200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:214453400-214454200	Flanking Active TSS	Fetal Brain Male	brain
48	chr1:214453400-214454200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:214453400-214455600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:214453400-214455600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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