Variant report

Variant	rs252068
Chromosome Location	chr5:178614232-178614233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1110514	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530499	0.89[CEU][hapmap]
rs194040	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252069	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252070	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252074	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs252075	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs252076	0.84[EUR][1000 genomes]
rs3776819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797601	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs888763	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs888764	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9329069	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1026790	chr5:178511268-178687428	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482352	chr5:178525060-178697496	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1016097	chr5:178544084-178866001	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1026968	chr5:178545479-178865895	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv537976	chr5:178545479-178865895	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv600496	chr5:178552518-178752351	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv883223	chr5:178576631-178630445	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv883224	chr5:178604465-178637502	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv883225	chr5:178604465-178639040	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv883226	chr5:178604465-178645310	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv883227	chr5:178604465-178659691	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv883228	chr5:178604465-178796142	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3360277	chr5:178611896-178614694	Weak transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv988467	chr5:178613736-178622247	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3397177	chr5:178614193-178614392	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
2	chr5:178607000-178615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:178607400-178614400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:178607400-178622200	Weak transcription	NHDF-Ad	bronchial
5	chr5:178607400-178636200	Weak transcription	HSMM	muscle
6	chr5:178607600-178626000	Weak transcription	HSMMtube	muscle
7	chr5:178607800-178629000	Weak transcription	NHLF	lung
8	chr5:178608000-178620800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:178608200-178614800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:178608200-178617800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:178608400-178619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:178608600-178616800	Weak transcription	Aorta	Aorta
13	chr5:178609000-178619400	Weak transcription	Osteobl	bone
14	chr5:178609800-178619600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178610400-178619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:178611800-178616000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:178611800-178616000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:178612000-178616000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:178612600-178615000	Flanking Active TSS	HepG2	liver
20	chr5:178612600-178615600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:178612600-178616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:178612600-178616000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:178612600-178616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:178612600-178616000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:178612800-178614400	Enhancers	Fetal Thymus	thymus
26	chr5:178612800-178615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:178612800-178616000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:178613000-178614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:178613200-178614400	Weak transcription	Fetal Lung	lung
30	chr5:178613200-178614400	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:178613200-178617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:178613200-178617800	Weak transcription	Spleen	Spleen
33	chr5:178613400-178614600	Weak transcription	Placenta	Placenta
34	chr5:178613400-178616000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:178613600-178614400	Enhancers	Fetal Stomach	stomach
36	chr5:178613600-178614600	Weak transcription	Fetal Brain Female	brain
37	chr5:178613600-178615000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:178613600-178615400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:178613600-178615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:178613600-178623200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:178613800-178616000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:178613800-178616000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:178614000-178614400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:178614000-178615400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr5:178614000-178615600	Enhancers	Fetal Brain Male	brain
46	chr5:178614200-178615000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:178614200-178615400	Enhancers	Ovary	ovary
48	chr5:178614200-178615600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:178614200-178615800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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