Variant report

Variant	rs11264621
Chromosome Location	chr1:153906397-153906398
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	POLR2A	chr1:153906395-153906434	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153905142..153906836-chr1:153961384..153963973,2	K562	blood:
2	chr1:153516334..153517838-chr1:153905134..153907202,2	MCF-7	breast:

Variant related genes	Relation type
DENND4B	TF binding region
ENSG00000177954	Chromatin interaction
ENSG00000196154	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10127484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494303	0.82[EUR][1000 genomes]
rs10908512	0.81[EUR][1000 genomes]
rs10908525	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908526	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264573	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264736	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11800001	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12133492	0.84[EUR][1000 genomes]
rs12142639	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142733	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252508	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35711150	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791186	0.85[EUR][1000 genomes]
rs4276953	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4540690	0.80[EUR][1000 genomes]
rs4845586	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6661009	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6671362	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7414227	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7415004	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522030	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549032	0.92[EUR][1000 genomes]
rs7554469	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153896600-153906400	Weak transcription	Small Intestine	intestine
2	chr1:153896600-153906400	Weak transcription	NH-A	brain
3	chr1:153896600-153908200	Weak transcription	Stomach Mucosa	stomach
4	chr1:153896600-153908200	Weak transcription	HSMM	muscle
5	chr1:153896800-153907200	Weak transcription	HSMMtube	muscle
6	chr1:153896800-153908000	Weak transcription	Fetal Kidney	kidney
7	chr1:153896800-153910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:153896800-153917600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:153897000-153907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:153897000-153908000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:153897000-153908000	Weak transcription	HepG2	liver
12	chr1:153897000-153908200	Weak transcription	HMEC	breast
13	chr1:153897000-153916400	Weak transcription	Fetal Brain Male	brain
14	chr1:153897200-153910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:153897400-153916600	Weak transcription	Fetal Heart	heart
16	chr1:153901000-153913800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:153901000-153915400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:153901000-153915600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:153901000-153916400	Strong transcription	Fetal Thymus	thymus
20	chr1:153901200-153910200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:153901200-153912800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:153901200-153914800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:153901200-153915600	Strong transcription	Primary T cells from cord blood	blood
24	chr1:153901400-153913600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:153901400-153913600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:153901400-153914800	Strong transcription	Primary B cells from cord blood	blood
27	chr1:153901400-153915800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr1:153901400-153915800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:153901400-153916400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:153901400-153916400	Strong transcription	Brain Germinal Matrix	brain
31	chr1:153901400-153916400	Strong transcription	Fetal Intestine Large	intestine
32	chr1:153901400-153916600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:153901400-153916600	Strong transcription	Fetal Stomach	stomach
34	chr1:153901400-153916800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:153901400-153916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:153901400-153917200	Strong transcription	Fetal Intestine Small	intestine
37	chr1:153901600-153908000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:153901600-153908600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:153901600-153913800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:153901600-153913800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:153901600-153915200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:153901600-153915800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:153901600-153915800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:153901600-153916200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:153901600-153916200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:153901600-153916600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:153901600-153916600	Strong transcription	Thymus	Thymus
48	chr1:153901600-153916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:153901600-153916800	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:153901600-153917000	Strong transcription	Fetal Brain Female	brain

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