Variant report

Variant	rs12292647
Chromosome Location	chr11:57541965-57541966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57506998..57509291-chr11:57540443..57545321,4	K562	blood:
2	chr11:57541504..57544488-chr11:62607869..62609390,2	MCF-7	breast:
3	chr11:57527377..57534826-chr11:57541861..57548775,13	MCF-7	breast:
4	chr11:57540282..57543092-chr11:57543604..57545694,2	K562	blood:
5	chr11:57540348..57543144-chr11:57545793..57547381,2	K562	blood:
6	chr11:57529498..57532508-chr11:57541660..57544888,3	K562	blood:
7	chr11:57533309..57536452-chr11:57541142..57544188,3	K562	blood:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10128604	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11229099	0.84[AFR][1000 genomes]
rs11229145	0.87[YRI][hapmap]
rs11501572	0.81[AFR][1000 genomes]
rs11822155	1.00[AFR][1000 genomes]
rs12271969	0.87[YRI][hapmap]
rs12278818	0.92[AFR][1000 genomes]
rs12292393	0.80[AFR][1000 genomes]
rs17152027	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs594967	0.87[YRI][hapmap]

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	nsv327	chr11:57532641-57550746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57530400-57545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:57531400-57543200	Weak transcription	Primary B cells from cord blood	blood
3	chr11:57531800-57543200	Weak transcription	Thymus	Thymus
4	chr11:57532800-57543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:57533400-57543000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:57534000-57542600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:57534200-57542400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:57534200-57542600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:57534400-57542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:57534800-57542000	Weak transcription	Fetal Stomach	stomach
11	chr11:57535000-57542800	Weak transcription	Brain Germinal Matrix	brain
12	chr11:57535200-57542400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:57535200-57542600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:57535200-57543000	Weak transcription	Fetal Brain Female	brain
15	chr11:57537400-57542800	Weak transcription	Fetal Brain Male	brain
16	chr11:57538400-57546000	Enhancers	Small Intestine	intestine
17	chr11:57538400-57549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:57538600-57543000	Weak transcription	Fetal Thymus	thymus
19	chr11:57538600-57543200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:57538600-57543400	Weak transcription	Primary T cells from cord blood	blood
21	chr11:57538600-57545000	Enhancers	Liver	Liver
22	chr11:57538800-57542600	Enhancers	Adipose Nuclei	Adipose
23	chr11:57539200-57542600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:57539200-57543400	Weak transcription	Aorta	Aorta
25	chr11:57539200-57543400	Enhancers	Left Ventricle	heart
26	chr11:57539200-57544000	Enhancers	HepG2	liver
27	chr11:57539600-57543200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:57539600-57552000	Enhancers	Placenta	Placenta
29	chr11:57539800-57543000	Enhancers	Brain Hippocampus Middle	brain
30	chr11:57539800-57543200	Enhancers	Fetal Heart	heart
31	chr11:57540000-57542400	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:57540000-57542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:57540200-57542400	Enhancers	HUVEC	blood vessel
34	chr11:57540200-57542600	Enhancers	Colon Smooth Muscle	Colon
35	chr11:57540200-57542800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:57540200-57543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:57540200-57545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:57540400-57542400	Weak transcription	HSMM	muscle
39	chr11:57540400-57542600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:57540400-57542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:57540400-57542600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:57540400-57542600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:57540400-57542600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:57540400-57542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:57540400-57542600	Weak transcription	Brain Anterior Caudate	brain
46	chr11:57540400-57542600	Weak transcription	HSMMtube	muscle
47	chr11:57540400-57542600	Weak transcription	NH-A	brain
48	chr11:57540400-57542800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:57540400-57542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:57540400-57542800	Weak transcription	NHLF	lung

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