Variant report

Variant	rs908550
Chromosome Location	chr2:113485505-113485506
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	MYC	chr2:113485454-113486200	K562	blood:	n/a	n/a
2	HDAC2	chr2:113485356-113485857	K562	blood:	n/a	n/a
3	MAZ	chr2:113485465-113485973	K562	blood:	n/a	n/a
4	CTCF	chr2:113485409-113485535	K562	blood:	n/a	n/a
5	CHD2	chr2:113485446-113485715	K562	blood:	n/a	n/a
6	CCNT2	chr2:113485505-113485861	K562	blood:	n/a	chr2:113485649-113485669
7	HMGN3	chr2:113485329-113486056	K562	blood:	n/a	chr2:113485742-113485749
8	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
9	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
10	TEAD4	chr2:113485423-113486029	K562	blood:	n/a	n/a
11	NR2F2	chr2:113485281-113485916	K562	blood:	n/a	n/a
12	MAX	chr2:113485306-113485972	K562	blood:	n/a	n/a
13	TEAD4	chr2:113485459-113485925	K562	blood:	n/a	n/a
14	UBTF	chr2:113485243-113485909	K562	blood:	n/a	n/a
15	RCOR1	chr2:113485315-113486359	K562	blood:	n/a	n/a
16	ELF1	chr2:113485233-113485611	K562	blood:	n/a	n/a
17	GABPA	chr2:113485353-113485760	K562	blood:	n/a	n/a
18	CBX3	chr2:113485472-113486249	K562	blood:	n/a	n/a
19	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
20	EP300	chr2:113485497-113486211	K562	blood:	n/a	chr2:113485527-113485543 chr2:113485879-113485889
21	POLR2A	chr2:113485410-113485903	K562	blood:	n/a	n/a
22	ELF1	chr2:113485074-113485929	K562	blood:	n/a	n/a
23	JUN	chr2:113484062-113486435	K562	blood:	n/a	n/a
24	GABPA	chr2:113485319-113485845	K562	blood:	n/a	n/a
25	UBTF	chr2:113485499-113485696	K562	blood:	n/a	n/a
26	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	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
11	chr2:113338959..113342918-chr2:113483353..113487579,5	K562	blood:
12	chr2:113485399..113487990-chr2:113522114..113523918,2	K562	blood:
13	chr2:113447408..113450068-chr2:113484150..113486328,2	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10209160	0.83[AFR][1000 genomes]
rs2138604	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2138605	0.87[AFR][1000 genomes]
rs35691553	1.00[AMR][1000 genomes]
rs3783585	1.00[AMR][1000 genomes]
rs4260249	0.83[AFR][1000 genomes]
rs56770888	1.00[AMR][1000 genomes]
rs6542089	0.83[AFR][1000 genomes]
rs6705236	1.00[AMR][1000 genomes]
rs7559917	0.89[AFR][1000 genomes];1.00[AMR][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:48 , 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	chr2:113484400-113485600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:113484400-113485600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:113484400-113485800	Weak transcription	Fetal Heart	heart
16	chr2:113484400-113486000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:113484400-113494200	Weak transcription	A549	lung
18	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
22	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
24	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:113484600-113486200	Weak transcription	NH-A	brain
27	chr2:113484600-113494200	Weak transcription	Fetal Thymus	thymus
28	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
29	chr2:113484800-113485800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:113484800-113486000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:113484800-113486000	Weak transcription	HUVEC	blood vessel
32	chr2:113484800-113486400	Weak transcription	Lung	lung
33	chr2:113484800-113490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:113484800-113490400	Weak transcription	Fetal Brain Male	brain
35	chr2:113484800-113490400	Weak transcription	Fetal Intestine Large	intestine
36	chr2:113484800-113494400	Weak transcription	NHEK	skin
37	chr2:113484800-113494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:113484800-113494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
41	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
42	chr2:113485000-113485800	Weak transcription	Stomach Mucosa	stomach
43	chr2:113485000-113486200	Weak transcription	Hela-S3	cervix
44	chr2:113485000-113494800	Weak transcription	Dnd41	blood
45	chr2:113485200-113486400	Flanking Active TSS	K562	blood
46	chr2:113485200-113494800	Weak transcription	HMEC	breast
47	chr2:113485400-113485600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:113485400-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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