Variant report

Variant	rs4251998
Chromosome Location	chr2:113881962-113881963
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	GATA1	chr2:113881605-113882249	PBDE	blood:	n/a	chr2:113881911-113881918 chr2:113881614-113881622 chr2:113881900-113881917 chr2:113881911-113881918 chr2:113881911-113881918
2	TAL1	chr2:113881773-113882043	K562	blood:	n/a	chr2:113881900-113881918
3	MTA3	chr2:113881647-113882536	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:113881455-113882708	PBDE	blood:	n/a	n/a
5	BATF	chr2:113881700-113882056	GM12878	blood:	n/a	n/a
6	SPI1	chr2:113881705-113882149	GM12891	blood:	n/a	chr2:113881986-113881993 chr2:113881953-113881966
7	TEAD4	chr2:113881727-113882055	K562	blood:	n/a	n/a
8	RCOR1	chr2:113881728-113882064	K562	blood:	n/a	n/a
9	MAZ	chr2:113881876-113882076	K562	blood:	n/a	n/a
10	RCOR1	chr2:113881784-113882047	K562	blood:	n/a	n/a
11	POLR2A	chr2:113881763-113882391	MCF10A-Er-Src	breast:	n/a	n/a
12	ATF2	chr2:113881686-113882473	GM12878	blood:	n/a	n/a
13	NFIC	chr2:113881599-113882483	GM12878	blood:	n/a	n/a
14	MTA3	chr2:113881639-113882303	GM12878	blood:	n/a	n/a
15	RUNX3	chr2:113881623-113882298	GM12878	blood:	n/a	n/a
16	EP300	chr2:113881768-113882036	GM12878	blood:	n/a	n/a
17	SPI1	chr2:113881652-113882147	GM12891	blood:	n/a	chr2:113881986-113881993 chr2:113881953-113881966
18	SPI1	chr2:113881728-113882122	GM12878	blood:	n/a	chr2:113881986-113881993 chr2:113881953-113881966
19	RUNX3	chr2:113881625-113882350	GM12878	blood:	n/a	n/a
20	MYC	chr2:113881366-113882294	NB4	blood:	n/a	n/a
21	EGR1	chr2:113881782-113881963	GM12878	blood:	n/a	n/a
22	FOXM1	chr2:113881647-113882151	GM12878	blood:	n/a	n/a
23	EBF1	chr2:113881958-113882459	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:113881739-113882336	K562	blood:	n/a	n/a
25	IKZF1	chr2:113881725-113882253	GM12878	blood:	n/a	n/a
26	EP300	chr2:113881799-113881976	K562	blood:	n/a	n/a
27	MAX	chr2:113881413-113882389	NB4	blood:	n/a	n/a
28	PBX3	chr2:113881896-113882133	GM12878	blood:	n/a	chr2:113882007-113882016
29	TEAD4	chr2:113881698-113882048	K562	blood:	n/a	n/a
30	BHLHE40	chr2:113881779-113882462	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113835706..113838400-chr2:113880453..113883939,3	MCF-7	breast:
2	chr2:113881539..113883723-chr2:113885379..113887857,3	K562	blood:
3	chr2:113876674..113878851-chr2:113881622..113884408,2	K562	blood:
4	chr2:113880075..113882309-chr2:113914138..113916361,2	MCF-7	breast:
5	chr2:113874395..113876014-chr2:113879125..113882509,3	K562	blood:
6	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:
7	chr2:113881134..113884097-chr2:113960459..113963321,2	K562	blood:

Variant related genes	Relation type
IL1RN	TF binding region
ENSG00000125637	Chromatin interaction
ENSG00000136689	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4251959	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113876000-113887400	Weak transcription	Gastric	stomach
3	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113876600-113885000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113879800-113885200	Weak transcription	Esophagus	oesophagus
6	chr2:113880400-113882200	Enhancers	HepG2	liver
7	chr2:113880800-113882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:113880800-113882200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113880800-113882800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:113880800-113882800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:113881000-113882000	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:113881000-113882800	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:113881200-113882000	Weak transcription	Lung	lung
14	chr2:113881200-113883200	Weak transcription	Liver	Liver
15	chr2:113881200-113884600	Enhancers	Primary B cells from cord blood	blood
16	chr2:113881400-113882200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:113881400-113882400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:113881400-113882400	Enhancers	NH-A	brain
19	chr2:113881400-113882600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:113881400-113882800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:113881400-113883200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:113881600-113882400	Enhancers	Adipose Nuclei	Adipose
23	chr2:113881600-113882600	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:113881600-113882600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:113881600-113882800	Enhancers	Fetal Heart	heart
26	chr2:113881600-113882800	Enhancers	Stomach Mucosa	stomach
27	chr2:113881600-113883200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:113881600-113883200	Enhancers	HMEC	breast
29	chr2:113881600-113884800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:113881800-113882000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr2:113881800-113882000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:113881800-113882000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:113881800-113882200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:113881800-113882600	Enhancers	Left Ventricle	heart
35	chr2:113881800-113882600	Enhancers	Right Ventricle	heart
36	chr2:113881800-113882600	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:113881800-113882800	Enhancers	NHDF-Ad	bronchial
38	chr2:113881800-113882800	Flanking Active TSS	NHEK	skin
39	chr2:113881800-113883200	Enhancers	HUVEC	blood vessel
40	chr2:113881800-113883200	Bivalent Enhancer	Osteobl	bone
41	chr2:113881800-113883400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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