Variant report

Variant	rs11582265
Chromosome Location	chr1:228274018-228274019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228268843-228274035	GM12878	blood:	n/a	n/a
2	CHD1	chr1:228269799-228274173	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:228273197-228274156	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:228271140-228274046	A549	lung:	n/a	n/a
5	HEY1	chr1:228268975-228274841	K562	blood:	n/a	chr1:228273039-228273054 chr1:228270374-228270389 chr1:228269868-228269883

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228272480..228275319-chr1:228642509..228645344,2	K562	blood:
2	chr1:228271974..228275319-chr1:228643789..228645457,3	K562	blood:
3	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
4	chr1:228198470..228200225-chr1:228272240..228274901,2	K562	blood:
5	chr1:228272716..228274410-chr1:228315377..228316904,2	K562	blood:
6	chr1:228272232..228274964-chr1:228309512..228311112,2	K562	blood:
7	chr1:228187607..228189988-chr1:228271798..228274148,2	K562	blood:
8	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
9	chr1:228131240..228133349-chr1:228272206..228274582,2	K562	blood:
10	chr1:227973508..227976414-chr1:228271906..228274660,2	K562	blood:

No data

Variant related genes	Relation type
ARF1	TF binding region
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1034792	0.82[EUR][1000 genomes]
rs1048503	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10495278	0.83[AFR][1000 genomes]
rs10495279	0.83[AFR][1000 genomes]
rs10916262	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577983	0.80[ASN][1000 genomes]
rs11578623	0.80[ASN][1000 genomes]
rs11580599	0.83[AFR][1000 genomes]
rs11582704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589007	0.80[ASN][1000 genomes]
rs11589040	0.80[ASN][1000 genomes]
rs11589467	0.80[ASN][1000 genomes]
rs11589513	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590118	0.80[ASN][1000 genomes]
rs1188975	0.91[EUR][1000 genomes]
rs1188977	0.98[EUR][1000 genomes]
rs12033088	0.82[EUR][1000 genomes]
rs12048010	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620734	0.98[EUR][1000 genomes]
rs1745422	0.82[EUR][1000 genomes]
rs17621519	0.80[ASN][1000 genomes]
rs1909647	0.80[ASN][1000 genomes]
rs2070960	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2295995	0.89[EUR][1000 genomes]
rs3738680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3738681	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3768329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820624	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41270175	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41270177	0.82[EUR][1000 genomes]
rs4363416	0.84[ASN][1000 genomes]
rs4546914	0.80[ASN][1000 genomes]
rs4653894	0.80[ASN][1000 genomes]
rs4653897	0.82[EUR][1000 genomes]
rs4653908	0.83[AFR][1000 genomes]
rs56888086	0.82[ASN][1000 genomes]
rs57146523	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57657087	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60213528	0.84[ASN][1000 genomes]
rs61825130	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825131	0.82[EUR][1000 genomes]
rs61825135	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61825157	0.83[AFR][1000 genomes]
rs61825159	0.83[AFR][1000 genomes]
rs61827462	0.83[AFR][1000 genomes]
rs708126	0.91[EUR][1000 genomes]
rs72756204	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756209	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530812	0.82[ASN][1000 genomes]
rs822727	0.98[EUR][1000 genomes]
rs860301	0.98[EUR][1000 genomes]
rs882451	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970544	0.83[AFR][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	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228271400-228274200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr1:228271600-228278600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:228272000-228275200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:228272000-228275400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:228272000-228275800	Enhancers	Spleen	Spleen
6	chr1:228272200-228275400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:228272400-228274600	Enhancers	Brain Substantia Nigra	brain
8	chr1:228272400-228279400	Genic enhancers	Fetal Muscle Leg	muscle
9	chr1:228272400-228280000	Genic enhancers	Fetal Thymus	thymus
10	chr1:228272400-228284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:228272600-228274800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:228272600-228275600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:228272600-228278400	Enhancers	Small Intestine	intestine
14	chr1:228272600-228280200	Enhancers	Fetal Heart	heart
15	chr1:228272800-228274800	Enhancers	Esophagus	oesophagus
16	chr1:228272800-228275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:228272800-228275400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:228272800-228275400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:228272800-228278600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:228272800-228278600	Genic enhancers	Fetal Stomach	stomach
21	chr1:228273000-228274400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:228273000-228274800	Enhancers	Fetal Intestine Large	intestine
23	chr1:228273000-228275600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:228273000-228275600	Enhancers	Brain Hippocampus Middle	brain
25	chr1:228273000-228275600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:228273000-228275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:228273000-228276000	Enhancers	Placenta	Placenta
28	chr1:228273000-228277400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:228273000-228279200	Genic enhancers	Fetal Intestine Small	intestine
30	chr1:228273000-228284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:228273200-228274600	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:228273200-228275200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:228273200-228275400	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:228273200-228275400	Enhancers	HMEC	breast
35	chr1:228273200-228275600	Enhancers	Thymus	Thymus
36	chr1:228273200-228275800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:228273200-228275800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:228273200-228275800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:228273200-228276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:228273200-228276400	Enhancers	Stomach Mucosa	stomach
41	chr1:228273400-228274200	Enhancers	Liver	Liver
42	chr1:228273400-228274400	Weak transcription	Fetal Kidney	kidney
43	chr1:228273400-228274600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:228273400-228275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:228273400-228275200	Enhancers	Right Atrium	heart
46	chr1:228273400-228275400	Enhancers	Primary B cells from cord blood	blood
47	chr1:228273400-228275400	Enhancers	Gastric	stomach
48	chr1:228273400-228275400	Enhancers	Ovary	ovary
49	chr1:228273400-228275400	Enhancers	NHLF	lung
50	chr1:228273400-228275600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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