Variant report

Variant	rs11229129
Chromosome Location	chr11:57559920-57559921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57554543..57556933-chr11:57559268..57561458,2	MCF-7	breast:
2	chr11:57548767..57550342-chr11:57559467..57561376,2	K562	blood:
3	chr11:57547662..57550342-chr11:57558966..57560967,3	K562	blood:
4	chr11:57528372..57531889-chr11:57558761..57560995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11229127	1.00[YRI][hapmap]
rs11229138	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11229157	0.89[AFR][1000 genomes]
rs11229168	1.00[AFR][1000 genomes]
rs12269967	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12272365	0.84[AFR][1000 genomes]
rs12277841	1.00[YRI][hapmap]
rs12278162	0.84[AFR][1000 genomes]
rs12283589	0.92[AFR][1000 genomes]
rs12284892	0.87[AFR][1000 genomes]
rs12285188	0.92[AFR][1000 genomes]
rs12287051	0.84[AFR][1000 genomes]
rs12289980	1.00[YRI][hapmap]
rs12291396	0.92[AFR][1000 genomes]
rs12292079	1.00[AFR][1000 genomes]
rs28693653	0.89[AFR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr11:57546800-57564000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:57552200-57560000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:57554800-57561600	Enhancers	Small Intestine	intestine
4	chr11:57555400-57563200	Weak transcription	Fetal Brain Male	brain
5	chr11:57555600-57562800	Weak transcription	Ovary	ovary
6	chr11:57556000-57562400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:57556000-57562400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:57556200-57560800	Weak transcription	NH-A	brain
10	chr11:57556200-57561200	Weak transcription	NHDF-Ad	bronchial
11	chr11:57556400-57560600	Genic enhancers	HepG2	liver
12	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57556600-57560000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:57556600-57560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:57556600-57560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:57556600-57563000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57557200-57561400	Genic enhancers	Fetal Intestine Large	intestine
18	chr11:57557200-57561600	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:57557200-57561800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:57557200-57566200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:57557200-57566200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:57558200-57560800	Enhancers	Fetal Thymus	thymus
23	chr11:57558200-57561600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:57558400-57560400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:57558400-57560600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:57558400-57560800	Flanking Active TSS	HMEC	breast
27	chr11:57558400-57560800	Genic enhancers	K562	blood
28	chr11:57558400-57562600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:57558400-57567200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:57558400-57567400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:57558600-57560000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:57558600-57560000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:57558600-57560000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:57558600-57560000	Strong transcription	Brain Germinal Matrix	brain
35	chr11:57558600-57560000	Genic enhancers	Esophagus	oesophagus
36	chr11:57558600-57560000	Genic enhancers	Left Ventricle	heart
37	chr11:57558600-57560000	Genic enhancers	Pancreas	Pancrea
38	chr11:57558600-57560200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:57558600-57560200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:57558600-57560400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:57558600-57560400	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr11:57558600-57560600	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr11:57558600-57560800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:57558600-57561600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:57558600-57561600	Genic enhancers	Liver	Liver
46	chr11:57558600-57561600	Genic enhancers	Colon Smooth Muscle	Colon
47	chr11:57558600-57561600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr11:57558600-57567200	Strong transcription	Fetal Brain Female	brain
49	chr11:57558800-57560000	Genic enhancers	Brain Anterior Caudate	brain
50	chr11:57558800-57560000	Genic enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links