Variant report

Variant	rs11844267
Chromosome Location	chr14:81835305-81835306
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	chr14:81834534..81837450-chr14:81839716..81841468,3	K562	blood:

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

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

rs_ID	r²[population]
rs10083372	1.00[EUR][1000 genomes]
rs11846655	1.00[AMR][1000 genomes]
rs11846778	1.00[AMR][1000 genomes]
rs11847949	1.00[AMR][1000 genomes]
rs11847979	1.00[AMR][1000 genomes]
rs13313400	1.00[EUR][1000 genomes]
rs28580155	1.00[EUR][1000 genomes]
rs28637476	1.00[EUR][1000 genomes]
rs28706901	1.00[EUR][1000 genomes]
rs28895654	1.00[AMR][1000 genomes]
rs58480431	1.00[AMR][1000 genomes]
rs61741062	1.00[EUR][1000 genomes]
rs71416865	1.00[AMR][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	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
4	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81820800-81836400	Weak transcription	K562	blood
2	chr14:81830400-81836200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:81830600-81837600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:81831000-81836400	Weak transcription	Adipose Nuclei	Adipose
5	chr14:81831000-81837600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
7	chr14:81831200-81839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:81832400-81838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:81832800-81835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81832800-81838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:81833000-81835400	Weak transcription	Ovary	ovary
12	chr14:81833000-81836000	Weak transcription	HSMM	muscle
13	chr14:81833000-81836600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:81833000-81837200	Weak transcription	Psoas Muscle	Psoas
15	chr14:81833000-81837800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:81833000-81838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:81833000-81838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:81833000-81838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:81833000-81839000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:81833000-81841400	Weak transcription	Spleen	Spleen
21	chr14:81833200-81835400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:81833200-81836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:81833200-81836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:81833200-81836600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:81833200-81837800	Weak transcription	NHDF-Ad	bronchial
26	chr14:81833200-81839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:81833200-81843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:81833400-81838000	Weak transcription	HMEC	breast
31	chr14:81833600-81837600	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:81833600-81838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:81833600-81839800	Weak transcription	Brain Anterior Caudate	brain
34	chr14:81833800-81837200	Weak transcription	Esophagus	oesophagus
35	chr14:81834200-81836000	Weak transcription	Liver	Liver
36	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
37	chr14:81834400-81837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:81834400-81838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:81834400-81839200	Weak transcription	Fetal Intestine Small	intestine
40	chr14:81834600-81837600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr14:81835000-81835600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:81835200-81835800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:81835200-81836200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:81835200-81837200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:81835200-81837400	Strong transcription	NHEK	skin
46	chr14:81835200-81837600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:81835200-81837600	Strong transcription	Fetal Muscle Trunk	muscle

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