Variant report

Variant	rs2061251
Chromosome Location	chr5:59997121-59997122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:59995070-59997191	K562	blood:	n/a	n/a
2	E2F4	chr5:59994881-59997215	MCF10A-Er-Src	breast:	n/a	chr5:59996023-59996032
3	BHLHE40	chr5:59995469-59997496	K562	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
4	POLR2A	chr5:59995082-59997876	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr5:59994764-59997204	IMR90	lung:	n/a	n/a
6	POLR2A	chr5:59995356-59997148	K562	blood:	n/a	n/a
7	POLR2A	chr5:59995354-59997661	K562	blood:	n/a	n/a
8	CTCF	chr5:59997040-59997190	GM12872	blood:	n/a	n/a
9	POLR2A	chr5:59995386-59997156	HepG2	liver:	n/a	n/a
10	GATA1	chr5:59995405-59997530	PBDE	blood:	n/a	n/a
11	POLR2A	chr5:59994865-59997316	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:59994810-59998074	K562	blood:	n/a	n/a
13	JUND	chr5:59997102-59997641	K562	blood:	n/a	n/a
14	POLR2A	chr5:59995257-59997152	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:
2	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
3	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
4	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:

Variant related genes	Relation type
DEPDC1B	TF binding region
ENSG00000251279	Chromatin interaction
ENSG00000164182	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000049167	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10056275	1.00[ASN][1000 genomes]
rs16878165	1.00[ASN][1000 genomes]
rs16878423	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878426	1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16878429	1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878466	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28531078	1.00[ASN][1000 genomes]
rs4647053	0.85[AMR][1000 genomes]
rs4647088	0.85[AMR][1000 genomes]
rs4647099	0.85[AMR][1000 genomes]
rs56679922	1.00[ASN][1000 genomes]
rs6860925	1.00[ASN][1000 genomes]
rs6889130	1.00[ASN][1000 genomes]
rs73759341	1.00[ASN][1000 genomes]
rs7700547	1.00[ASN][1000 genomes]
rs7707672	1.00[ASN][1000 genomes]
rs7708284	1.00[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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59996200-59997200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:59996600-59997400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:59996600-59997400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:59996600-59997600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:59996600-59997600	Enhancers	Left Ventricle	heart
6	chr5:59996600-59997600	Enhancers	Small Intestine	intestine
7	chr5:59996600-59997800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:59996600-59998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:59996800-59997200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:59996800-59997200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:59996800-59997200	Enhancers	Brain Hippocampus Middle	brain
12	chr5:59996800-59997200	Enhancers	Fetal Stomach	stomach
13	chr5:59996800-59997400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:59996800-59997400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:59996800-59997400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:59996800-59997400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:59996800-59997400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr5:59996800-59997400	Enhancers	Liver	Liver
19	chr5:59996800-59997400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:59996800-59997400	Enhancers	Ovary	ovary
21	chr5:59996800-59997400	Enhancers	HUVEC	blood vessel
22	chr5:59996800-59997400	Enhancers	NHLF	lung
23	chr5:59996800-59997600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:59996800-59997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:59996800-59997600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:59996800-59997600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:59996800-59997600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:59996800-59997800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:59996800-59997800	Enhancers	Fetal Intestine Large	intestine
30	chr5:59996800-59998000	Enhancers	Fetal Intestine Small	intestine
31	chr5:59996800-60001800	Enhancers	Placenta	Placenta
32	chr5:59997000-59997200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:59997000-59997200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:59997000-59997200	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:59997000-59997200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:59997000-59997200	Enhancers	Fetal Heart	heart
37	chr5:59997000-59997200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:59997000-59997400	Enhancers	Primary hematopoietic stem cells	blood
39	chr5:59997000-59997400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:59997000-59997400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:59997000-59997400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:59997000-59997400	Enhancers	Right Ventricle	heart
43	chr5:59997000-59997400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:59997000-59997400	Enhancers	Dnd41	blood
45	chr5:59997000-59997400	Enhancers	GM12878-XiMat	blood
46	chr5:59997000-59997600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:59997000-59997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:59997000-59997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:59997000-59997600	Enhancers	Adipose Nuclei	Adipose
50	chr5:59997000-59997600	Enhancers	Fetal Lung	lung

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