Variant report

Variant	rs7121553
Chromosome Location	chr11:5621463-5621464
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	RAD21	chr11:5621358-5622042	SK-N-SH	brain:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
2	CTCF	chr11:5621405-5621964	HepG2	liver:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
3	RAD21	chr11:5621408-5622020	A549	lung:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
4	CTCF	chr11:5621369-5621998	IMR90	lung:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
5	CTCF	chr11:5621386-5621990	A549	lung:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
6	CTCF	chr11:5621375-5622028	HCT-116	colon:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
7	RAD21	chr11:5621432-5621869	ECC-1	luminal epithelium:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
8	CTCF	chr11:5621180-5622653	A549	lung:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
9	RAD21	chr11:5621457-5621916	SK-N-SH_RA	brain:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
10	CTCF	chr11:5621419-5621993	K562	blood:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
11	FOSL2	chr11:5621415-5621894	A549	lung:	n/a	n/a
12	CTCF	chr11:5621433-5621904	T-47D	breast:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
13	RAD21	chr11:5621389-5622033	HCT-116	colon:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
14	GATA1	chr11:5621435-5622078	PBDE	blood:	n/a	chr11:5621775-5621782 chr11:5621774-5621784 chr11:5621775-5621784 chr11:5621500-5621511
15	SMC3	chr11:5621391-5622001	SK-N-SH	brain:	n/a	chr11:5621676-5621690
16	TCF7L2	chr11:5621240-5621820	PANC-1	pancreas:	n/a	n/a
17	CTCF	chr11:5621442-5621920	H1-hESC	embryonic stem cell:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
18	CTCF	chr11:5621436-5621933	H1-hESC	embryonic stem cell:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
19	RAD21	chr11:5621459-5622136	IMR90	lung:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
20	CTCF	chr11:5621344-5622152	HCT-116	colon:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
21	CTCF	chr11:5621448-5622029	MCF-7	breast:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
22	RAD21	chr11:5621413-5622075	HCT-116	colon:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
23	RAD21	chr11:5621427-5621969	HepG2	liver:	n/a	chr11:5621678-5621691 chr11:5621675-5621694 chr11:5621855-5621864 chr11:5621680-5621692
24	CTCF	chr11:5621392-5622058	K562	blood:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697
25	NR2F2	chr11:5621416-5622042	K562	blood:	n/a	n/a
26	ATF3	chr11:5621418-5621916	A549	lung:	n/a	n/a
27	CTCF	chr11:5621390-5622048	SK-N-SH	brain:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5619995-5622488..11:5700314-5707362	GM12878	blood:
2	chr11:5508719..5510764-chr11:5620309..5621971,2	K562	blood:
3	chr11:5621239..5622221-chr11:5632559..5633494,6	MCF-7	breast:
4	11:5469844-5475173..11:5619995-5622488	H1-hESC	embryonic stem cell:	embryo
5	chr11:5496965..5497586-chr11:5621155..5621656,2	MCF-7	breast:
6	chr11:5618082..5620073-chr11:5620182..5621691,2	K562	blood:
7	chr11:5621057..5622077-chr11:5733143..5734453,7	MCF-7	breast:
8	11:5619995-5622488..11:5707362-5712027	GM12878	blood:
9	chr11:5267593..5269501-chr11:5620817..5623766,2	K562	blood:
10	11:5619995-5622488..11:5721056-5732713	GM12878	blood:
11	chr11:5621238..5622269-chr11:5829297..5830332,4	MCF-7	breast:
12	chr11:5621202..5622094-chr11:5733662..5734343,2	MCF-7	breast:
13	chr11:5620099..5622096-chr11:5638442..5640324,2	K562	blood:
14	11:5527719-5533869..11:5619995-5622488	K562	blood:
15	chr11:5522829..5527225-chr11:5617678..5621647,5	K562	blood:
16	11:5619995-5622488..11:5714465-5718134	GM12878	blood:

Variant related genes	Relation type
TRIM6	TF binding region
ENSG00000187918	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000175520	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000181609	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000132274	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10838406	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11822879	0.88[CHB][hapmap]
rs6578665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73400343	0.83[EUR][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	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv896944	chr11:5588174-5625603	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv896945	chr11:5598864-5625603	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
11	nsv896946	chr11:5619008-5639873	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5618200-5624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:5618400-5623800	Weak transcription	Placenta	Placenta
3	chr11:5618400-5640400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
5	chr11:5618600-5621800	Weak transcription	Fetal Heart	heart
6	chr11:5618600-5640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:5619000-5621800	Weak transcription	HUVEC	blood vessel
9	chr11:5619000-5623600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:5619000-5627600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:5619000-5629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:5619000-5631400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:5619000-5631800	Weak transcription	GM12878-XiMat	blood
14	chr11:5619200-5621600	Weak transcription	Liver	Liver
15	chr11:5619200-5621800	Weak transcription	NHEK	skin
16	chr11:5619200-5625800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:5619400-5621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:5619400-5626200	Weak transcription	Fetal Stomach	stomach
19	chr11:5619600-5621800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:5619600-5621800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:5619600-5621800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:5619600-5621800	Weak transcription	Pancreas	Pancrea
23	chr11:5619600-5621800	Weak transcription	NHLF	lung
24	chr11:5619600-5622400	Enhancers	Colon Smooth Muscle	Colon
25	chr11:5619600-5623000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:5619600-5624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:5619600-5624600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:5619600-5626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:5619600-5627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:5619600-5627200	Weak transcription	NHDF-Ad	bronchial
31	chr11:5619600-5631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:5619600-5636000	Weak transcription	Aorta	Aorta
33	chr11:5619600-5641600	Weak transcription	Lung	lung
34	chr11:5619600-5642000	Weak transcription	Ovary	ovary
35	chr11:5619600-5645600	Weak transcription	Esophagus	oesophagus
36	chr11:5619800-5621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:5619800-5621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:5619800-5622000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:5619800-5624600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:5620000-5624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:5620000-5625200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:5620200-5621800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:5620200-5631400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:5620400-5621800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:5620400-5621800	Weak transcription	Osteobl	bone
46	chr11:5620400-5622200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr11:5620400-5624200	Weak transcription	Adipose Nuclei	Adipose
48	chr11:5620400-5624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:5620400-5626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:5621000-5621600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links