Variant report

Variant	rs558768331
Chromosome Location	chr1:214775887-214775888
allele	C/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	ATF1	chr1:214775849-214776633	K562	blood:	n/a	n/a
2	MXI1	chr1:214775847-214776944	K562	blood:	n/a	n/a
3	NR2F2	chr1:214775886-214777467	K562	blood:	n/a	n/a
4	KAP1	chr1:214775741-214776345	K562	blood:	n/a	n/a
5	MYC	chr1:214775873-214777626	K562	blood:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
6	E2F6	chr1:214775861-214777026	K562	blood:	n/a	chr1:214776468-214776477 chr1:214776699-214776708 chr1:214776441-214776450 chr1:214776713-214776722
7	TBL1XR1	chr1:214775653-214777040	K562	blood:	n/a	n/a
8	TEAD4	chr1:214775776-214776736	K562	blood:	n/a	n/a
9	STAT5A	chr1:214775850-214776823	K562	blood:	n/a	n/a
10	POLR2A	chr1:214775862-214776957	PFSK-1	brain:	n/a	n/a
11	FOXM1	chr1:214775783-214777596	ECC-1	luminal epithelium:	n/a	n/a
12	MXI1	chr1:214775707-214778478	SK-N-SH	brain:	n/a	n/a
13	SIX5	chr1:214775810-214776817	A549	lung:	n/a	n/a
14	SP1	chr1:214775875-214777010	A549	lung:	n/a	chr1:214776440-214776461 chr1:214776501-214776522 chr1:214776813-214776825 chr1:214776759-214776768
15	MAX	chr1:214775790-214777043	A549	lung:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
16	POLR2A	chr1:214775824-214777024	U87	brain:	n/a	n/a
17	TCF12	chr1:214775884-214777506	A549	lung:	n/a	n/a
18	FOXM1	chr1:214775843-214777211	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr1:214775699-214777751	A549	lung:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
20	GATA1	chr1:214775337-214776917	PBDE	blood:	n/a	n/a
21	POLR2A	chr1:214775842-214777725	SK-N-MC	brain:	n/a	n/a
22	FOXM1	chr1:214775797-214777224	SK-N-SH	brain:	n/a	n/a
23	CBX3	chr1:214775878-214777027	K562	blood:	n/a	n/a
24	MYC	chr1:214775774-214776960	A549	lung:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
25	TBL1XR1	chr1:214775455-214776586	K562	blood:	n/a	n/a
26	TAL1	chr1:214775820-214776659	K562	blood:	n/a	n/a
27	CREB1	chr1:214775850-214776964	K562	blood:	n/a	n/a
28	SP1	chr1:214775847-214777099	HCT-116	colon:	n/a	chr1:214776440-214776461 chr1:214776501-214776522 chr1:214776813-214776825 chr1:214776759-214776768
29	ARID3A	chr1:214775385-214776694	K562	blood:	n/a	chr1:214776181-214776197
30	POLR2A	chr1:214775831-214777409	MCF10A-Er-Src	breast:	n/a	n/a
31	CUX1	chr1:214775825-214776527	K562	blood:	n/a	n/a
32	POLR2A	chr1:214775807-214778034	PBDE	blood:	n/a	n/a
33	TRIM28	chr1:214775811-214776957	K562	blood:	n/a	n/a
34	CHD2	chr1:214775831-214777032	K562	blood:	n/a	n/a
35	BCL3	chr1:214775803-214776680	A549	lung:	n/a	n/a
36	MYC	chr1:214775804-214777683	K562	blood:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
37	IRF1	chr1:214775680-214777799	K562	blood:	n/a	chr1:214777131-214777141 chr1:214777131-214777145

No.	Distal block	Cell Line	Cell type
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
2	chr1:214723767..214726550-chr1:214774637..214776348,2	MCF-7	breast:
3	chr1:214773497..214776791-chr1:214785798..214789572,5	K562	blood:
4	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region
ENSG00000224584	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000250536	Chromatin interaction
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214774200-214776000	Enhancers	HepG2	liver
2	chr1:214775400-214776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:214775400-214776200	Flanking Active TSS	K562	blood
4	chr1:214775600-214776000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:214775600-214776000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:214775600-214776200	Flanking Active TSS	NHEK	skin
7	chr1:214775600-214776400	Flanking Active TSS	Dnd41	blood
8	chr1:214775600-214776800	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:214775600-214777000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:214775600-214777200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:214775600-214777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:214775600-214777800	Active TSS	A549	lung
13	chr1:214775800-214776000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:214775800-214776000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:214775800-214776000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:214775800-214776000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:214775800-214776000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:214775800-214776000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:214775800-214776000	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:214775800-214776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:214775800-214776000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:214775800-214776000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:214775800-214776000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:214775800-214776000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:214775800-214776000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:214775800-214776000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:214775800-214776000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:214775800-214776000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:214775800-214776000	Enhancers	Liver	Liver
30	chr1:214775800-214776000	Enhancers	Colonic Mucosa	Colon
31	chr1:214775800-214776000	Active TSS	Duodenum Mucosa	Duodenum
32	chr1:214775800-214776000	Enhancers	Fetal Heart	heart
33	chr1:214775800-214776000	Flanking Active TSS	Fetal Lung	lung
34	chr1:214775800-214776000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:214775800-214776000	Enhancers	Hela-S3	cervix
36	chr1:214775800-214776000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr1:214775800-214776200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:214775800-214776200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:214775800-214776200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:214775800-214776200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:214775800-214776200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:214775800-214776200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:214775800-214776200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:214775800-214776200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:214775800-214776200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:214775800-214776200	Flanking Active TSS	Fetal Kidney	kidney
47	chr1:214775800-214776200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:214775800-214776200	Flanking Active TSS	HMEC	breast
49	chr1:214775800-214776200	Flanking Active TSS	HUVEC	blood vessel
50	chr1:214775800-214776200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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