Variant report

Variant	rs884659
Chromosome Location	chr2:113485700-113485701
allele	A/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	MYC	chr2:113485454-113486200	K562	blood:	n/a	n/a
2	TBL1XR1	chr2:113485517-113486151	K562	blood:	n/a	n/a
3	HDAC2	chr2:113485356-113485857	K562	blood:	n/a	n/a
4	MAZ	chr2:113485465-113485973	K562	blood:	n/a	n/a
5	CHD2	chr2:113485446-113485715	K562	blood:	n/a	n/a
6	CUX1	chr2:113485570-113485765	K562	blood:	n/a	n/a
7	CCNT2	chr2:113485505-113485861	K562	blood:	n/a	chr2:113485649-113485669
8	HMGN3	chr2:113485329-113486056	K562	blood:	n/a	chr2:113485742-113485749
9	GATA2	chr2:113485462-113485929	K562	blood:	n/a	chr2:113485738-113485754 chr2:113485743-113485750 chr2:113485743-113485750 chr2:113485738-113485754 chr2:113485741-113485751 chr2:113485743-113485750 chr2:113485736-113485757 chr2:113485741-113485750
10	GATA1	chr2:113484190-113486166	K562	blood:	n/a	chr2:113485738-113485754 chr2:113485743-113485750 chr2:113485743-113485750 chr2:113485738-113485754 chr2:113485741-113485751 chr2:113485743-113485750 chr2:113485736-113485757 chr2:113485741-113485750
11	BHLHE40	chr2:113485673-113486214	K562	blood:	n/a	n/a
12	IRF1	chr2:113485588-113485930	K562	blood:	n/a	n/a
13	TEAD4	chr2:113485423-113486029	K562	blood:	n/a	n/a
14	NR2F2	chr2:113485281-113485916	K562	blood:	n/a	n/a
15	MAX	chr2:113485306-113485972	K562	blood:	n/a	n/a
16	ATF1	chr2:113485537-113485999	K562	blood:	n/a	n/a
17	TEAD4	chr2:113485459-113485925	K562	blood:	n/a	n/a
18	UBTF	chr2:113485243-113485909	K562	blood:	n/a	n/a
19	RCOR1	chr2:113485315-113486359	K562	blood:	n/a	n/a
20	RCOR1	chr2:113485587-113486157	K562	blood:	n/a	n/a
21	GATA2	chr2:113485513-113485950	K562	blood:	n/a	chr2:113485738-113485754 chr2:113485743-113485750 chr2:113485743-113485750 chr2:113485738-113485754 chr2:113485741-113485751 chr2:113485743-113485750 chr2:113485736-113485757 chr2:113485741-113485750
22	TBL1XR1	chr2:113485559-113485981	K562	blood:	n/a	n/a
23	POLR2A	chr2:113485547-113485931	K562	blood:	n/a	n/a
24	MYC	chr2:113485611-113485992	K562	blood:	n/a	n/a
25	ZNF263	chr2:113485688-113486211	HEK293-T-REx	kidney:	n/a	n/a
26	GABPA	chr2:113485353-113485760	K562	blood:	n/a	n/a
27	CBX3	chr2:113485472-113486249	K562	blood:	n/a	n/a
28	GATA1	chr2:113485466-113486392	PBDE	blood:	n/a	chr2:113485738-113485754 chr2:113485743-113485750 chr2:113485743-113485750 chr2:113485738-113485754 chr2:113485741-113485751 chr2:113485743-113485750 chr2:113485736-113485757 chr2:113485741-113485750
29	EP300	chr2:113485497-113486211	K562	blood:	n/a	chr2:113485527-113485543 chr2:113485879-113485889
30	POLR2A	chr2:113485410-113485903	K562	blood:	n/a	n/a
31	ELF1	chr2:113485074-113485929	K562	blood:	n/a	n/a
32	CEBPD	chr2:113485573-113486010	K562	blood:	n/a	n/a
33	CEBPB	chr2:113485643-113485867	K562	blood:	n/a	n/a
34	MYC	chr2:113485680-113485855	K562	blood:	n/a	n/a
35	MAX	chr2:113485582-113485902	K562	blood:	n/a	n/a
36	ARID3A	chr2:113485587-113485959	K562	blood:	n/a	n/a
37	JUND	chr2:113485558-113486244	K562	blood:	n/a	n/a
38	JUN	chr2:113484062-113486435	K562	blood:	n/a	n/a
39	GABPA	chr2:113485319-113485845	K562	blood:	n/a	n/a
40	ZMIZ1	chr2:113485581-113485844	K562	blood:	n/a	n/a
41	TAL1	chr2:113485474-113485993	K562	blood:	n/a	chr2:113485651-113485669

No.	Distal block	Cell Line	Cell type
1	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
2	chr2:113338256..113339919-chr2:113484252..113486585,3	MCF-7	breast:
3	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
4	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
5	chr2:113484246..113487026-chr2:113487818..113491393,4	MCF-7	breast:
6	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
7	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
8	chr2:113415099..113418730-chr2:113484170..113487314,3	K562	blood:
9	chr2:113340008..113343992-chr2:113483304..113487579,6	K562	blood:
10	chr2:113482871..113484637-chr2:113485555..113488424,2	K562	blood:
11	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
12	chr2:113338959..113342918-chr2:113483353..113487579,5	K562	blood:
13	chr2:113485399..113487990-chr2:113522114..113523918,2	K562	blood:
14	chr2:113447408..113450068-chr2:113484150..113486328,2	MCF-7	breast:

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000237753	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3783570	1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3783583	0.85[AFR][1000 genomes]
rs41332549	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs61190947	1.00[AFR][1000 genomes]
rs72952121	0.93[AFR][1000 genomes]
rs72952124	0.93[AFR][1000 genomes]
rs73955265	1.00[AFR][1000 genomes]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:113481800-113486600	Enhancers	Placenta	Placenta
7	chr2:113483000-113488200	Enhancers	Spleen	Spleen
8	chr2:113483600-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113483800-113488200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:113484000-113486200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:113484000-113487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:113484400-113485800	Weak transcription	Fetal Heart	heart
14	chr2:113484400-113486000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:113484400-113494200	Weak transcription	A549	lung
16	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
20	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
22	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:113484600-113486200	Weak transcription	NH-A	brain
25	chr2:113484600-113494200	Weak transcription	Fetal Thymus	thymus
26	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
27	chr2:113484800-113485800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:113484800-113486000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:113484800-113486000	Weak transcription	HUVEC	blood vessel
30	chr2:113484800-113486400	Weak transcription	Lung	lung
31	chr2:113484800-113490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:113484800-113490400	Weak transcription	Fetal Brain Male	brain
33	chr2:113484800-113490400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:113484800-113494400	Weak transcription	NHEK	skin
35	chr2:113484800-113494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:113484800-113494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
39	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
40	chr2:113485000-113485800	Weak transcription	Stomach Mucosa	stomach
41	chr2:113485000-113486200	Weak transcription	Hela-S3	cervix
42	chr2:113485000-113494800	Weak transcription	Dnd41	blood
43	chr2:113485200-113486400	Flanking Active TSS	K562	blood
44	chr2:113485200-113494800	Weak transcription	HMEC	breast
45	chr2:113485400-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:113485600-113486000	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:113485600-113486400	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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