Variant report

Variant	rs908546
Chromosome Location	chr2:113470486-113470487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113470447..113473260-chr2:113504157..113506344,2	K562	blood:
2	chr2:113420962..113423174-chr2:113470482..113472440,2	K562	blood:
3	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
4	chr2:113468894..113470919-chr2:113476217..113478885,2	MCF-7	breast:
5	chr2:113401638..113406636-chr2:113469377..113473888,9	K562	blood:
6	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
7	chr2:113408522..113411073-chr2:113469156..113471009,2	K562	blood:
8	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
9	chr2:113469794..113474486-chr2:113475351..113478319,4	K562	blood:
10	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:
11	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:
12	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
13	chr2:113415587..113417242-chr2:113468748..113471406,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4849109	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849112	0.85[CEU][hapmap]
rs908547	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv441775	chr2:113462399-113478887	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2755193	chr2:113467769-113478769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2756942	chr2:113469235-113478889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2759084	chr2:113469235-113478889	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 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	chr2:113465200-113470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:113465400-113470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:113465400-113470600	Weak transcription	HMEC	breast
5	chr2:113465400-113470600	Weak transcription	NHEK	skin
6	chr2:113465800-113470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113467600-113470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:113467800-113471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:113468800-113470800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:113468800-113472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:113469000-113470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:113469000-113474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:113469200-113470600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:113469400-113471000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
18	chr2:113469600-113471400	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:113469800-113471000	Enhancers	Fetal Kidney	kidney
20	chr2:113469800-113471600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:113470000-113470600	Enhancers	GM12878-XiMat	blood
22	chr2:113470000-113471400	Enhancers	NHDF-Ad	bronchial
23	chr2:113470000-113471800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:113470000-113471800	Enhancers	Spleen	Spleen
25	chr2:113470200-113471000	Bivalent Enhancer	HepG2	liver
26	chr2:113470200-113471400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:113470200-113471400	Enhancers	NHLF	lung
28	chr2:113470200-113471600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:113470400-113471000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:113470400-113471200	Flanking Active TSS	K562	blood
31	chr2:113470400-113471400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:113470400-113471600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:113470400-113471600	Enhancers	NH-A	brain
34	chr2:113470400-113471600	Enhancers	Osteobl	bone
35	chr2:113470400-113471800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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