Variant report

Variant	rs12278340
Chromosome Location	chr11:94490084-94490085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94484475..94490118-chr11:94499952..94504799,7	K562	blood:

Variant related genes	Relation type
ENSG00000166025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12279797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291566	1.00[EUR][1000 genomes]
rs12294457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12786204	1.00[EUR][1000 genomes]
rs12799237	1.00[EUR][1000 genomes]
rs12808355	1.00[EUR][1000 genomes]
rs34840079	1.00[EUR][1000 genomes]
rs34917558	1.00[EUR][1000 genomes]
rs35011724	1.00[EUR][1000 genomes]
rs35164064	1.00[EUR][1000 genomes]
rs35708933	1.00[EUR][1000 genomes]
rs35720344	1.00[EUR][1000 genomes]
rs71459739	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94474800-94497200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94483800-94491600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:94484000-94500600	Weak transcription	Esophagus	oesophagus
4	chr11:94484200-94490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:94485600-94491200	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:94485600-94495000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:94486200-94490200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:94486200-94490400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:94486200-94491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:94486200-94495600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:94486200-94499600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:94486400-94490400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:94486400-94492800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:94486400-94494800	Weak transcription	Hela-S3	cervix
15	chr11:94486400-94495400	Weak transcription	A549	lung
16	chr11:94486400-94499600	Weak transcription	Fetal Stomach	stomach
17	chr11:94487000-94490400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:94487200-94490800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:94487200-94496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:94487600-94490400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:94487600-94491000	Weak transcription	Right Atrium	heart
22	chr11:94487600-94492600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:94487800-94490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:94487800-94492800	Weak transcription	Placenta	Placenta
25	chr11:94488400-94490200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:94488600-94490400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:94488600-94490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:94488600-94496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:94489000-94492800	Weak transcription	HMEC	breast
30	chr11:94489200-94493600	Weak transcription	K562	blood
31	chr11:94489400-94493600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:94489600-94491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:94489600-94493400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:94489800-94490600	Enhancers	HUVEC	blood vessel
35	chr11:94490000-94491000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:94490000-94491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:94490000-94491600	Weak transcription	NHEK	skin

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