Variant report

Variant	rs73285597
Chromosome Location	chr14:39892738-39892739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39891521..39896514-chr14:39899849..39902823,6	K562	blood:

Variant related genes	Relation type
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17109185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28398804	0.86[AFR][1000 genomes]
rs56804791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146753	0.88[AFR][1000 genomes]
rs7156962	0.91[AFR][1000 genomes]
rs7158282	0.91[AFR][1000 genomes]
rs73285548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285587	0.99[AFR][1000 genomes];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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
4	chr14:39882200-39895400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:39886000-39895600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:39886200-39895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:39886400-39895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:39886600-39894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:39886600-39894400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:39886600-39895600	Weak transcription	Fetal Lung	lung
11	chr14:39886600-39895800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:39886600-39895800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:39886600-39898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:39886600-39900000	Weak transcription	Esophagus	oesophagus
15	chr14:39886600-39900000	Weak transcription	Pancreas	Pancrea
16	chr14:39886800-39895600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:39886800-39895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:39886800-39895600	Weak transcription	HepG2	liver
19	chr14:39886800-39895800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:39886800-39895800	Weak transcription	Fetal Thymus	thymus
21	chr14:39886800-39895800	Weak transcription	Thymus	Thymus
22	chr14:39886800-39899200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:39886800-39899600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:39887000-39895800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39887000-39899200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:39887200-39895400	Weak transcription	Dnd41	blood
27	chr14:39887200-39895600	Weak transcription	GM12878-XiMat	blood
28	chr14:39887600-39898000	Weak transcription	Fetal Stomach	stomach
29	chr14:39889400-39895600	Weak transcription	Liver	Liver
30	chr14:39889600-39898800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:39889800-39895400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:39889800-39898800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:39890200-39893400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:39890200-39895600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:39890200-39895600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:39890200-39896800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:39890400-39895800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:39890600-39897800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:39890600-39897800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:39890600-39897800	Weak transcription	Fetal Brain Female	brain
41	chr14:39890800-39895400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:39890800-39895600	Weak transcription	Primary T cells from cord blood	blood
43	chr14:39890800-39895600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:39890800-39895800	Weak transcription	Primary B cells from cord blood	blood
45	chr14:39890800-39895800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:39890800-39896400	Enhancers	Fetal Heart	heart
47	chr14:39891000-39895400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:39891000-39898400	Weak transcription	Fetal Kidney	kidney
49	chr14:39891200-39895800	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:39891200-39897600	Weak transcription	Fetal Brain Male	brain

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