Variant report

Variant	rs4252784
Chromosome Location	chr4:77994502-77994503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
2	chr4:77977197..77979192-chr4:77991457..77995421,4	K562	blood:
3	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
4	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
5	chr4:77992562..77994708-chr4:78066148..78068888,2	MCF-7	breast:
6	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
7	chr4:77722957..77725210-chr4:77994122..77996396,2	K562	blood:

Variant related genes	Relation type
ENSG00000138764	Chromatin interaction
ENSG00000214062	Chromatin interaction
ENSG00000224218	Chromatin interaction
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17002342	0.86[ASW][hapmap];0.96[LWK][hapmap]
rs17002356	0.86[AFR][1000 genomes]
rs4252792	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4252794	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4252803	0.83[LWK][hapmap];0.87[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs4252807	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4252877	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4252884	0.96[AFR][1000 genomes]
rs4252889	0.96[AFR][1000 genomes]
rs7693454	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77970400-77994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:77974000-77994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:77975800-77995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:77980000-77994800	Weak transcription	Colonic Mucosa	Colon
5	chr4:77983600-77994800	Weak transcription	Esophagus	oesophagus
6	chr4:77983600-77995400	Weak transcription	Gastric	stomach
7	chr4:77986000-77994600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:77987400-77995400	Weak transcription	Lung	lung
9	chr4:77987600-77994600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:77988200-77994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:77989400-77995400	Weak transcription	Pancreas	Pancrea
12	chr4:77990200-77994800	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:77990600-77995800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:77991800-77995200	Enhancers	Liver	Liver
15	chr4:77992000-77995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:77992000-77995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:77992000-77996200	Weak transcription	Spleen	Spleen
18	chr4:77992000-77998200	Active TSS	GM12878-XiMat	blood
19	chr4:77992400-77994600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:77992400-77994600	Enhancers	Fetal Heart	heart
21	chr4:77993000-77995000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:77993200-77996000	Flanking Active TSS	Dnd41	blood
23	chr4:77993400-77994600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:77993400-77996000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr4:77993400-77996000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr4:77993600-77994600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:77993600-77994600	Active TSS	Brain Angular Gyrus	brain
28	chr4:77993600-77994600	Enhancers	Brain Substantia Nigra	brain
29	chr4:77993600-77994600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr4:77993600-77995400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:77993600-77996000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr4:77993600-77996000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr4:77993600-77996000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:77993600-77996200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:77993600-77998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr4:77993600-77998400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:77993800-77994600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr4:77993800-77994800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:77993800-77994800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:77993800-77995800	Flanking Active TSS	HUVEC	blood vessel
41	chr4:77993800-77995800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr4:77993800-77995800	Flanking Active TSS	NH-A	brain
43	chr4:77993800-77996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:77993800-77996000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr4:77993800-77996000	Flanking Active TSS	Osteobl	bone
46	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:77994000-77994600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:77994000-77994600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:77994000-77994600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:77994000-77994600	Flanking Active TSS	Fetal Brain Female	brain

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