Variant report

Variant	rs4449559
Chromosome Location	chr5:167756239-167756240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167754930..167757425-chr5:167761269..167763229,2	MCF-7	breast:
2	chr5:167717830..167720391-chr5:167755502..167758327,4	MCF-7	breast:
3	chr5:167754810..167757631-chr5:167767557..167769092,2	K562	blood:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11954736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519918	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17051843	0.97[GIH][hapmap];1.00[JPT][hapmap]
rs17070081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632741	0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17632785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873605	0.87[ASN][1000 genomes]
rs72822616	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822618	0.91[ASN][1000 genomes]
rs72822619	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822620	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822623	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822625	1.00[ASN][1000 genomes]
rs72822626	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822628	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822629	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828862	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828867	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7725545	1.00[CHB][hapmap];1.00[ASN][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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167744600-167757800	Weak transcription	Lung	lung
2	chr5:167751200-167756800	Enhancers	Placenta	Placenta
3	chr5:167751800-167757200	Enhancers	Liver	Liver
4	chr5:167752000-167756800	Enhancers	NH-A	brain
5	chr5:167752600-167756600	Weak transcription	HSMM	muscle
6	chr5:167752600-167773000	Weak transcription	Esophagus	oesophagus
7	chr5:167753200-167757200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:167753400-167756600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:167753600-167758600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:167753800-167756400	Enhancers	Osteobl	bone
11	chr5:167754000-167758200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167754000-167758800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:167754000-167758800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:167754000-167758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:167754200-167756400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:167754200-167756600	Enhancers	GM12878-XiMat	blood
17	chr5:167754200-167757400	Enhancers	Fetal Lung	lung
18	chr5:167754200-167757600	Enhancers	Fetal Intestine Small	intestine
19	chr5:167754200-167757600	Enhancers	Fetal Kidney	kidney
20	chr5:167754400-167756400	Enhancers	Pancreas	Pancrea
21	chr5:167754400-167759000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:167754600-167756400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:167754800-167758200	Enhancers	Fetal Intestine Large	intestine
24	chr5:167755000-167758600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:167755200-167756600	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:167755200-167757000	Enhancers	Stomach Mucosa	stomach
27	chr5:167755200-167757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:167755200-167758600	Weak transcription	NHEK	skin
29	chr5:167755400-167756400	Enhancers	Fetal Heart	heart
30	chr5:167755400-167756400	Flanking Active TSS	HepG2	liver
31	chr5:167755400-167756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:167755400-167757600	Weak transcription	Gastric	stomach
33	chr5:167755400-167758800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:167755400-167761200	Weak transcription	HMEC	breast
35	chr5:167755600-167756400	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:167755600-167756600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:167755600-167758600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:167755600-167761200	Weak transcription	NHDF-Ad	bronchial
39	chr5:167755600-167761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:167755800-167756800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:167755800-167756800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:167755800-167756800	Enhancers	Ovary	ovary
43	chr5:167755800-167756800	Flanking Active TSS	Hela-S3	cervix
44	chr5:167755800-167757200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:167756000-167756400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:167756000-167756400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:167756000-167756600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr5:167756000-167756600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:167756000-167756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:167756000-167756800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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