Variant report

Variant	rs522553
Chromosome Location	chr11:65771669-65771670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:65771654-65772178	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:65771647-65772045	K562	blood:	n/a	n/a
4	POLR2A	chr11:65771570-65772311	K562	blood:	n/a	n/a
5	POLR2A	chr11:65771623-65772150	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:65770998-65771999	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65771625-65771935	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:65771412-65772068	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:65771558-65775410	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:65770786-65772259	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:65771616-65772140	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65771022-65772233	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
2	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
3	chr11:65771026..65774019-chr11:65782878..65784960,2	MCF-7	breast:
4	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
5	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
6	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:

No data

Variant related genes	Relation type
EIF1AD	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11227377	0.86[AMR][1000 genomes]
rs1151510	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1151514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1192184	0.99[EUR][1000 genomes]
rs1204011	1.00[EUR][1000 genomes]
rs1786171	0.84[AMR][1000 genomes]
rs1786172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1786174	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs502363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs506873	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534201	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540584	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs543952	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs548435	0.83[EUR][1000 genomes]
rs548495	0.98[EUR][1000 genomes]
rs549334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559161	0.86[AMR][1000 genomes]
rs586921	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs590531	1.00[EUR][1000 genomes]
rs610497	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs615646	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs616073	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs619701	1.00[EUR][1000 genomes]
rs622779	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs632640	0.83[EUR][1000 genomes]
rs645571	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs668210	0.81[EUR][1000 genomes]
rs677350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684546	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7933510	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	nsv975942	chr11:65770970-65771808	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65770600-65771800	Enhancers	Fetal Brain Male	brain
2	chr11:65770600-65773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:65770800-65771800	Enhancers	Left Ventricle	heart
4	chr11:65770800-65772000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:65770800-65772000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:65770800-65774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:65770800-65775200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:65771000-65771800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:65771000-65772000	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:65771000-65772000	Genic enhancers	Fetal Thymus	thymus
11	chr11:65771000-65772000	Enhancers	Stomach Mucosa	stomach
12	chr11:65771000-65772200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65771000-65773200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:65771000-65774000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:65771000-65774600	Strong transcription	Thymus	Thymus
16	chr11:65771000-65776000	Weak transcription	Small Intestine	intestine
17	chr11:65771000-65779000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:65771000-65779000	Weak transcription	Aorta	Aorta
19	chr11:65771200-65771800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:65771200-65771800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:65771200-65771800	Genic enhancers	Fetal Muscle Leg	muscle
22	chr11:65771200-65771800	Weak transcription	Ovary	ovary
23	chr11:65771200-65771800	Enhancers	Psoas Muscle	Psoas
24	chr11:65771200-65771800	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr11:65771200-65771800	Genic enhancers	Hela-S3	cervix
26	chr11:65771200-65771800	Genic enhancers	HSMM	muscle
27	chr11:65771200-65772000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:65771200-65772000	Strong transcription	Esophagus	oesophagus
29	chr11:65771200-65772000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:65771200-65772200	Strong transcription	Gastric	stomach
31	chr11:65771200-65772200	Strong transcription	K562	blood
32	chr11:65771200-65772400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:65771200-65772600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:65771200-65772800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:65771200-65773000	Weak transcription	Fetal Kidney	kidney
36	chr11:65771200-65773200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:65771200-65773200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:65771200-65773200	Strong transcription	Colon Smooth Muscle	Colon
39	chr11:65771200-65773400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:65771200-65773400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:65771200-65773400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:65771200-65773400	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:65771200-65773400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:65771200-65773600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:65771200-65773600	Strong transcription	Osteobl	bone
46	chr11:65771200-65773800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:65771200-65773800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:65771200-65773800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:65771200-65773800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:65771200-65774000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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