Variant report

Variant	rs532348824
Chromosome Location	chr10:23003820-23003821
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	FOXP2	chr10:23003193-23003906	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr10:23001941-23004344	GM12892	blood:	n/a	n/a
3	MXI1	chr10:23000923-23004170	SK-N-SH	brain:	n/a	n/a
4	GTF2F1	chr10:23003649-23003848	K562	blood:	n/a	n/a
5	POLR2A	chr10:23002047-23003977	GM12878	blood:	n/a	n/a
6	MAZ	chr10:23001569-23004394	IMR90	lung:	n/a	n/a
7	POLR2A	chr10:23001201-23004277	GM18505	blood:	n/a	n/a
8	POLR2A	chr10:23001832-23004525	GM12892	blood:	n/a	n/a
9	MXI1	chr10:23003463-23003880	Hela-S3	cervix:	n/a	n/a
10	E2F6	chr10:23003428-23004129	H1-hESC	embryonic stem cell:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
11	POLR2A	chr10:23003115-23003894	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr10:23003124-23003903	Hela-S3	cervix:	n/a	n/a
13	MAX	chr10:23003372-23004024	K562	blood:	n/a	n/a
14	YY1	chr10:23003125-23003844	GM12891	blood:	n/a	chr10:23003683-23003697 chr10:23003780-23003791
15	EP300	chr10:23003143-23003929	K562	blood:	n/a	chr10:23003685-23003701 chr10:23003321-23003337
16	POLR2A	chr10:23003174-23003876	HEK293	kidney:	n/a	n/a
17	BHLHE40	chr10:23002959-23004372	K562	blood:	n/a	chr10:23003671-23003687 chr10:23003674-23003690 chr10:23003663-23003679 chr10:23003492-23003508 chr10:23003020-23003036
18	E2F4	chr10:23002067-23003936	K562	blood:	n/a	chr10:23003655-23003667 chr10:23003654-23003665
19	MYC	chr10:23001139-23004066	K562	blood:	n/a	n/a
20	POLR2A	chr10:23001700-23004437	GM19099	blood:	n/a	n/a
21	MAX	chr10:23003368-23003976	Hela-S3	cervix:	n/a	n/a
22	YY1	chr10:23003394-23003891	K562	blood:	n/a	chr10:23003683-23003697 chr10:23003780-23003791
23	POLR2A	chr10:23002885-23003864	GM12891	blood:	n/a	n/a
24	POLR2A	chr10:23003438-23003880	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr10:23003103-23003951	ProgFib	skin:	n/a	n/a
26	TCF3	chr10:23002849-23003927	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:23002016-23004252	GM19193	blood:	n/a	n/a
28	POLR2A	chr10:23002906-23003961	K562	blood:	n/a	n/a
29	UBTF	chr10:23001641-23003979	K562	blood:	n/a	n/a
30	E2F6	chr10:23003413-23004201	H1-hESC	embryonic stem cell:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
31	TBL1XR1	chr10:23003699-23003966	K562	blood:	n/a	n/a
32	MAX	chr10:23003355-23004140	K562	blood:	n/a	n/a
33	MAX	chr10:23003691-23004032	HepG2	liver:	n/a	n/a
34	MAX	chr10:23003355-23004196	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:23003489-23003901	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr10:23003277-23003861	HCT-116	colon:	n/a	n/a
37	POLR2A	chr10:23003195-23003841	IMR90	lung:	n/a	n/a
38	CTCF	chr10:23003818-23003882	GM19239	blood:	n/a	n/a
39	RELA	chr10:23003060-23004030	GM10847	blood:	n/a	n/a
40	YY1	chr10:23002862-23003843	GM12878	blood:	n/a	chr10:23002962-23002973 chr10:23003683-23003697 chr10:23003780-23003791
41	POLR2A	chr10:23003016-23003947	NB4	blood:	n/a	n/a
42	MXI1	chr10:23001527-23004155	IMR90	lung:	n/a	n/a
43	CTCF	chr10:23003680-23003830	GM12875	blood:	n/a	n/a
44	PAX5	chr10:23003712-23004150	GM12878	blood:	n/a	chr10:23003908-23003926
45	HEY1	chr10:23002953-23003965	K562	blood:	n/a	chr10:23003022-23003037 chr10:23003508-23003523 chr10:23003668-23003683
46	CTCF	chr10:23003671-23003961	GM12878	blood:	n/a	n/a
47	EGR1	chr10:23003415-23003888	GM12878	blood:	n/a	n/a
48	POLR2A	chr10:23002749-23004389	GM12892	blood:	n/a	n/a
49	MAX	chr10:23003475-23004231	NB4	blood:	n/a	n/a
50	ZNF263	chr10:23001602-23004087	HEK293-T-REx	kidney:	n/a	chr10:23002389-23002398

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:23003779-23003829	HPAEpiC	pulmonary alveolar:	n/a
2	chr10:23003779-23003829	U87	brain:	n/a
3	chr10:23003779-23003829	HCF	heart:	n/a
4	chr10:23003779-23003829	Hepatocyte	liver:	n/a
5	chr10:23003779-23003829	A549	lung:	n/a
6	chr10:23003779-23003829	HAEpiC	amniotic membrane:	n/a
7	chr10:23003779-23003829	NHBE	bronchial:	n/a
8	chr10:23003779-23003829	GM19239	blood:	n/a
9	chr10:23003779-23003829	GM12892	blood:	n/a
10	chr10:23003779-23003829	NB4	blood:	n/a
11	chr10:23003779-23003829	LNCaP	prostate:	n/a
12	chr10:23003779-23003829	RPTEC	kidney:	n/a
13	chr10:23003779-23003829	PrEC	prostate:	n/a
14	chr10:23003779-23003829	HEEpiC	esophagus:	n/a
15	chr10:23003779-23003829	Hela-S3	cervix:	n/a
16	chr10:23003779-23003829	HRCEpiC	kidney:	n/a
17	chr10:23003779-23003829	NHDF-neo	bronchial:	n/a
18	chr10:23003779-23003829	K562	blood:	n/a
19	chr10:23003779-23003829	HRPEpiC	eye:	n/a
20	chr10:23003779-23003829	HRE	kidney:	n/a
21	chr10:23003779-23003829	SK-N-SH_RA	brain:	n/a
22	chr10:23003779-23003829	ovcar-3	ovarian:	n/a
23	chr10:23003779-23003829	SAEC	small airway:	n/a
24	chr10:23003779-23003829	HepG2	liver:	n/a
25	chr10:23003779-23003829	GM12878	blood:	n/a
26	chr10:23003779-23003829	HEK293	kidney:	embryo
27	chr10:23003779-23003829	HCT-116	colon:	n/a
28	chr10:23003779-23003829	T-47D	breast:	n/a
29	chr10:23003779-23003829	HMEC	breast:	n/a
30	chr10:23003779-23003829	AG04449	skin:	fetal
31	chr10:23003779-23003829	BJ	skin:	n/a
32	chr10:23003779-23003829	ProgFib	skin:	n/a
33	chr10:23003779-23003829	Jurkat	blood:	n/a
34	chr10:23003779-23003829	AG09319	gingival:	n/a
35	chr10:23003779-23003829	AG04450	lung:	fetal
36	chr10:23003779-23003829	HCPEpiC	choroid plexus:	n/a
37	chr10:23003779-23003829	H1-hESC	embryonic stem cell:	embryo
38	chr10:23003779-23003829	BE2_C	brain:	n/a
39	chr10:23003779-23003829	HCM	heart:	n/a
40	chr10:23003779-23003829	HNPCEpiC	eye:	n/a
41	chr10:23003779-23003829	MCF10A-Er-Src	breast:	n/a
42	chr10:23003779-23003829	MCF-7	breast:	n/a
43	chr10:23003779-23003829	GM12891	blood:	n/a
44	chr10:23003779-23003829	SK-N-SH	brain:	n/a
45	chr10:23003779-23003829	HL-60	blood:	n/a
46	chr10:23003779-23003829	NH-A	brain:	n/a
47	chr10:23003779-23003829	SKMC	muscle:	n/a
48	chr10:23003779-23003829	CMK	blood:	n/a
49	chr10:23003779-23003829	PANC-1	pancreas:	n/a
50	chr10:23003779-23003829	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22862798..22864758-chr10:23003498..23006178,2	K562	blood:
2	chr10:23003493..23005808-chr10:23014761..23017222,2	MCF-7	breast:
3	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:

Variant related genes	Relation type
PIP4K2A	TF binding region
PIP4K2A	CpG island
ENSG00000269897	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000148444	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330079	chr10:23002696-23004844	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22999400-23004000	Active TSS	Brain Angular Gyrus	brain
2	chr10:23000400-23004000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:23000400-23004000	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr10:23000400-23004200	Active TSS	Aorta	Aorta
5	chr10:23000600-23004000	Active TSS	Brain Anterior Caudate	brain
6	chr10:23000600-23004000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr10:23000800-23004000	Active TSS	Right Atrium	heart
8	chr10:23001000-23004000	Active TSS	NHDF-Ad	bronchial
9	chr10:23001000-23004000	Active TSS	NHLF	lung
10	chr10:23001000-23004400	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:23001200-23004200	Active TSS	Fetal Kidney	kidney
12	chr10:23001400-23004200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr10:23001400-23004400	Active TSS	HSMMtube	muscle
14	chr10:23001600-23004000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr10:23001600-23004000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:23001600-23004000	Active TSS	Lung	lung
17	chr10:23001600-23004000	Active TSS	Ovary	ovary
18	chr10:23001600-23004000	Active TSS	Right Ventricle	heart
19	chr10:23001800-23004200	Active TSS	HSMM	muscle
20	chr10:23002000-23004000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr10:23002000-23004000	Active TSS	A549	lung
22	chr10:23002000-23004200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:23002000-23004400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:23002000-23004600	Active TSS	Colon Smooth Muscle	Colon
25	chr10:23002200-23004000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:23002200-23004200	Active TSS	NH-A	brain
27	chr10:23002400-23004000	Active TSS	Psoas Muscle	Psoas
28	chr10:23002400-23004200	Active TSS	Colonic Mucosa	Colon
29	chr10:23003000-23004000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr10:23003600-23004200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr10:23003600-23004200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:23003600-23004200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr10:23003600-23004200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:23003600-23004200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:23003600-23004200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:23003600-23004200	Flanking Active TSS	Liver	Liver
37	chr10:23003600-23004400	Flanking Active TSS	Dnd41	blood
38	chr10:23003600-23004400	Flanking Active TSS	HMEC	breast
39	chr10:23003800-23004000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr10:23003800-23004000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:23003800-23004000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:23003800-23004000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:23003800-23004000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:23003800-23004000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:23003800-23004000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr10:23003800-23004000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:23003800-23004000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr10:23003800-23004000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr10:23003800-23004000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:23003800-23004000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links