Variant report

Variant	rs11848548
Chromosome Location	chr14:81969706-81969707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81685634..81688148-chr14:81968126..81969997,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10142746	1.00[ASN][1000 genomes]
rs10144172	1.00[ASN][1000 genomes]
rs11846082	0.83[AMR][1000 genomes]
rs11846663	0.83[AMR][1000 genomes]
rs11846666	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851475	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883451	0.83[AMR][1000 genomes]
rs17115590	1.00[ASN][1000 genomes]
rs60944245	1.00[ASN][1000 genomes]
rs7144154	0.83[AMR][1000 genomes]
rs7154698	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158459	0.83[AMR][1000 genomes]
rs7158559	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74064993	1.00[ASN][1000 genomes]
rs8008992	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8020513	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022069	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr14:81938400-81971000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:81938400-81973400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:81940000-81971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:81940600-81975000	Strong transcription	Liver	Liver
9	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr14:81941400-81972200	Strong transcription	Fetal Intestine Large	intestine
12	chr14:81941400-81972400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:81941800-81975000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:81942000-81975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:81942600-81975000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:81943400-81976400	Strong transcription	Dnd41	blood
23	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:81944600-81971800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr14:81947200-81974800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:81948400-81974400	Strong transcription	Placenta	Placenta
27	chr14:81948600-81972800	Strong transcription	Osteobl	bone
28	chr14:81948600-81975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:81948800-81973800	Strong transcription	Fetal Thymus	thymus
30	chr14:81948800-81974000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:81948800-81977800	Strong transcription	Primary B cells from cord blood	blood
32	chr14:81949600-81975400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:81950000-81975400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:81950200-81974600	Strong transcription	Primary T cells from cord blood	blood
35	chr14:81950400-81974800	Strong transcription	Fetal Brain Female	brain
36	chr14:81953200-81970200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:81955600-81973600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:81958400-81972600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:81958400-81976400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:81958800-81972800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:81958800-81974800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:81959000-81974200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:81959400-81973400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:81959800-81972600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:81960200-81983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:81960400-81973800	Strong transcription	Brain Angular Gyrus	brain
47	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
48	chr14:81962600-81977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:81963000-81973200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:81963000-81973800	Strong transcription	GM12878-XiMat	blood

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