Variant report

Variant	rs11589277
Chromosome Location	chr1:226322956-226322957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226186376..226188653-chr1:226320391..226323133,2	K562	blood:
2	chr1:226321369..226323954-chr1:226327416..226330476,3	K562	blood:
3	chr1:226309387..226312243-chr1:226322101..226324468,2	K562	blood:
4	chr1:226322866..226324714-chr1:226373638..226375451,2	MCF-7	breast:
5	chr1:226309744..226312243-chr1:226321771..226324398,3	K562	blood:
6	chr1:226321090..226323803-chr1:226336056..226338005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143751	Chromatin interaction
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10753414	0.99[EUR][1000 genomes]
rs10915942	0.87[EUR][1000 genomes]
rs11583604	1.00[ASN][1000 genomes]
rs11583736	1.00[ASN][1000 genomes]
rs11583805	1.00[ASN][1000 genomes]
rs11585469	1.00[ASN][1000 genomes]
rs12081020	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1219670	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219672	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877159	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219134	1.00[ASN][1000 genomes]
rs41268727	1.00[ASN][1000 genomes]
rs4278344	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757016	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:226316000-226324000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:226316800-226323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
7	chr1:226318600-226331600	Weak transcription	NH-A	brain
8	chr1:226319400-226324200	Enhancers	Gastric	stomach
9	chr1:226319600-226331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:226320000-226324000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:226320000-226324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226320400-226323200	Enhancers	NHEK	skin
13	chr1:226320600-226323800	Enhancers	Fetal Intestine Large	intestine
14	chr1:226320800-226334000	Weak transcription	K562	blood
15	chr1:226321000-226323000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:226321000-226331000	Weak transcription	HSMM	muscle
17	chr1:226321200-226323600	Enhancers	Fetal Intestine Small	intestine
18	chr1:226321200-226323600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
20	chr1:226321400-226323200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226321400-226323600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:226321400-226333800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:226321400-226333800	Weak transcription	GM12878-XiMat	blood
27	chr1:226321600-226323400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:226321800-226323600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:226321800-226331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:226322000-226323800	Enhancers	Lung	lung
31	chr1:226322000-226324000	Enhancers	Stomach Mucosa	stomach
32	chr1:226322000-226324000	Enhancers	HepG2	liver
33	chr1:226322000-226331600	Weak transcription	Primary B cells from cord blood	blood
34	chr1:226322000-226334400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:226322200-226323400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr1:226322200-226323400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:226322200-226323600	Enhancers	Liver	Liver
38	chr1:226322200-226323600	Enhancers	Fetal Heart	heart
39	chr1:226322200-226323800	Enhancers	Fetal Brain Male	brain
40	chr1:226322200-226331600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:226322200-226331800	Weak transcription	HMEC	breast
42	chr1:226322400-226323000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:226322400-226323000	Enhancers	Brain Germinal Matrix	brain
44	chr1:226322400-226323000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr1:226322400-226323200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:226322400-226323200	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:226322400-226323200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:226322400-226323200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:226322400-226323200	Enhancers	Spleen	Spleen
50	chr1:226322400-226323400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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