Variant report

Variant	rs2651242
Chromosome Location	chr1:70994652-70994653
allele	C/T
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	CTCF	chr1:70994458-70994868	MCF-7	breast:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
2	CTCF	chr1:70994425-70994739	T-47D	breast:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
3	RAD21	chr1:70994345-70994941	HCT-116	colon:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
4	CTCF	chr1:70994477-70994807	HepG2	liver:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
5	CTCF	chr1:70994540-70994690	GM12878	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
6	CTCF	chr1:70994520-70994670	BJ	skin:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
7	CTCF	chr1:70994430-70994773	Gliobla	brain:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
8	SMC3	chr1:70994457-70994778	HepG2	liver:	n/a	chr1:70994604-70994618
9	MAZ	chr1:70994410-70994787	K562	blood:	n/a	n/a
10	CTCF	chr1:70994540-70994690	SAEC	small airway:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
11	CTCF	chr1:70994540-70994690	GM12874	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
12	CTCF	chr1:70994404-70994830	K562	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
13	ZBTB7A	chr1:70994519-70994746	K562	blood:	n/a	n/a
14	CTCF	chr1:70994499-70994694	GM13976	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
15	CTCF	chr1:70994560-70994710	GM12867	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
16	RAD21	chr1:70994451-70994794	K562	blood:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
17	CTCF	chr1:70994483-70994720	HepG2	liver:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
18	CTCF	chr1:70994464-70994750	LNCaP	prostate:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
19	CTCF	chr1:70994454-70994756	SK-N-SH_RA	brain:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
20	CTCF	chr1:70994520-70994670	HMF	breast:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
21	RAD21	chr1:70994488-70994770	HepG2	liver:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
22	CTCF	chr1:70994498-70994718	MCF-7	breast:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
23	CTCF	chr1:70994540-70994690	GM12875	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
24	CTCF	chr1:70994493-70994706	GM13977	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
25	RAD21	chr1:70994510-70994735	K562	blood:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
26	CTCF	chr1:70994540-70994690	WERI-Rb-1	eye:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
27	CTCF	chr1:70994511-70994662	A549	lung:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
28	POLR2A	chr1:70994640-70994702	Gliobla	brain:	n/a	n/a
29	CTCF	chr1:70994520-70994670	AG10803	skin:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
30	RAD21	chr1:70994431-70994794	Hela-S3	cervix:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
31	CTCF	chr1:70994540-70994690	SK-N-SH_RA	brain:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
32	CTCF	chr1:70994442-70994739	K562	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
33	CTCF	chr1:70994471-70994761	GM19240	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
34	CTCF	chr1:70994520-70994670	AG04450	lung:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
35	RAD21	chr1:70994331-70994949	MCF-7	breast:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
36	CTCF	chr1:70994469-70994728	ECC-1	luminal epithelium:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
37	CTCF	chr1:70994494-70994686	GM20000	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
38	CTCF	chr1:70994520-70994670	AG04449	skin:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
39	CTCF	chr1:70994428-70994805	IMR90	lung:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
40	CTCF	chr1:70994491-70994752	GM12891	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
41	CTCF	chr1:70994520-70994670	GM12864	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
42	CTCF	chr1:70994463-70994760	MCF-7	breast:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
43	CTCF	chr1:70994540-70994690	K562	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
44	CTCF	chr1:70994493-70994741	HUVEC	blood vessel:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
45	RAD21	chr1:70994470-70994856	HepG2	liver:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
46	RAD21	chr1:70994437-70994799	HepG2	liver:	n/a	chr1:70994606-70994619 chr1:70994603-70994622
47	CTCF	chr1:70994540-70994690	GM12870	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
48	CTCF	chr1:70994508-70994666	Lung_OC	lung:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
49	CTCF	chr1:70994520-70994670	GM12867	blood:	n/a	chr1:70994604-70994625 chr1:70994607-70994615
50	CTCF	chr1:70994502-70994728	Spleen_OC	spleen:	n/a	chr1:70994604-70994625 chr1:70994607-70994615

No.	Distal block	Cell Line	Cell type
1	chr1:70994251..70996830-chr1:71512472..71514167,2	MCF-7	breast:
2	chr1:70994153..70995054-chr1:71515400..71515921,3	K562	blood:
3	chr1:70994166..70995038-chr1:71083135..71084093,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233020	TF binding region
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2651241	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2651243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2651244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[ASN][1000 genomes]
rs2651245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2651246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780749	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780750	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2807905	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70993800-70994800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:70994200-70994800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:70994200-70994800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:70994200-70994800	Enhancers	K562	blood
5	chr1:70994400-70994800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:70994400-70994800	Enhancers	Ovary	ovary
7	chr1:70994400-70994800	Enhancers	NHDF-Ad	bronchial
8	chr1:70994400-70995000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:70994600-70994800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:70994600-70994800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:70994600-70994800	Enhancers	Adipose Nuclei	Adipose
12	chr1:70994600-70995000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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