Variant report

Variant	rs247251
Chromosome Location	chr5:61710030-61710031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
2	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
3	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
4	chr5:61709715..61711702-chr5:61716368..61718393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086200	Chromatin interaction
ENSG00000086189	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10058598	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10069594	0.93[CEU][hapmap]
rs10069988	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs101091	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12517326	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1301064	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1301065	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13361219	0.83[ASN][1000 genomes]
rs1477358	0.96[CEU][hapmap];0.80[AMR][1000 genomes]
rs152186	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152204	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs152210	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890800	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs247225	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs247227	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs247231	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247232	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247237	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247241	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247242	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247243	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247250	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247254	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs247259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247262	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs247264	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247266	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs247479	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26635	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26639	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26642	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27089	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27448	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27449	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27931	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35119	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35348760	0.83[ASN][1000 genomes]
rs4145851	0.81[ASN][1000 genomes]
rs4700494	0.96[CEU][hapmap]
rs767159	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs784916	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs784918	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9632387	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61707800-61710200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:61708000-61710200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:61708200-61710200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:61708200-61710400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:61708400-61710200	Active TSS	K562	blood
6	chr5:61708800-61710400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:61709400-61710200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:61709400-61710200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:61709400-61710600	Flanking Active TSS	Dnd41	blood
11	chr5:61709400-61727400	Weak transcription	Placenta	Placenta
12	chr5:61709400-61727400	Weak transcription	Pancreas	Pancrea
13	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
14	chr5:61709600-61710400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:61709600-61710600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:61709600-61713800	Weak transcription	Left Ventricle	heart
17	chr5:61709600-61719400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:61709600-61723000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:61709600-61724600	Weak transcription	Fetal Stomach	stomach
20	chr5:61709600-61726400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:61709600-61728000	Weak transcription	Gastric	stomach
22	chr5:61709600-61738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:61709600-61738800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:61709600-61739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:61709600-61744000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:61709800-61710200	Enhancers	Primary B cells from cord blood	blood
27	chr5:61709800-61710200	Enhancers	Primary T cells from cord blood	blood
28	chr5:61709800-61710200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:61709800-61710200	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:61709800-61710400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:61709800-61710400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:61709800-61710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:61709800-61710400	Enhancers	NHDF-Ad	bronchial
34	chr5:61709800-61710600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:61709800-61710600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:61709800-61710600	Enhancers	Brain Angular Gyrus	brain
37	chr5:61709800-61710600	Enhancers	Brain Germinal Matrix	brain
38	chr5:61709800-61710600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:61709800-61710800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:61709800-61710800	Enhancers	Liver	Liver
41	chr5:61709800-61710800	Enhancers	Fetal Brain Female	brain
42	chr5:61709800-61710800	Enhancers	Fetal Heart	heart
43	chr5:61709800-61711200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:61709800-61713000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:61709800-61714600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:61709800-61727400	Weak transcription	HSMM	muscle
47	chr5:61709800-61728000	Weak transcription	Fetal Lung	lung
48	chr5:61709800-61728000	Weak transcription	Right Ventricle	heart
49	chr5:61709800-61728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:61709800-61728200	Weak transcription	Brain Hippocampus Middle	brain

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