Variant report

Variant	rs73265830
Chromosome Location	chr14:55807082-55807083
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:55807018-55807189	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55738126..55740346-chr14:55806571..55808200,2	MCF-7	breast:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258455	TF binding region
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17128414	1.00[AFR][1000 genomes]
rs17128433	1.00[AFR][1000 genomes]
rs1815582	0.88[AFR][1000 genomes]
rs57623127	1.00[AFR][1000 genomes]
rs58780994	1.00[AFR][1000 genomes]
rs73265831	1.00[AFR][1000 genomes]
rs73265861	1.00[AFR][1000 genomes]
rs73279069	1.00[AFR][1000 genomes]
rs73279076	1.00[AFR][1000 genomes]
rs73279087	1.00[AFR][1000 genomes]
rs73279091	1.00[AFR][1000 genomes]
rs73279095	0.94[AFR][1000 genomes]
rs73279099	0.88[AFR][1000 genomes]
rs73279100	1.00[AFR][1000 genomes]
rs73280917	1.00[AFR][1000 genomes]
rs73280924	1.00[AFR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv84773	chr14:55804786-55807119	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
3	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:55782000-55817200	Weak transcription	HSMM	muscle
5	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:55797800-55807800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:55800000-55817200	Weak transcription	Dnd41	blood
11	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:55801000-55807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:55801000-55808400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:55801000-55808600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:55801000-55817200	Weak transcription	HepG2	liver
17	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:55801200-55817200	Weak transcription	Liver	Liver
20	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
22	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:55801600-55807200	Enhancers	Primary T cells from cord blood	blood
25	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:55802000-55807200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:55802200-55817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:55802200-55817400	Weak transcription	Fetal Intestine Small	intestine
29	chr14:55802800-55808000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:55803000-55808000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:55803200-55808000	Weak transcription	Osteobl	bone
32	chr14:55803200-55808200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:55803200-55809000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:55803400-55809200	Weak transcription	Colonic Mucosa	Colon
35	chr14:55803400-55817200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:55803400-55817200	Weak transcription	Placenta	Placenta
37	chr14:55803600-55817200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:55804400-55807600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:55804400-55811000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:55804600-55808800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:55804800-55811400	Weak transcription	Gastric	stomach
42	chr14:55805200-55811800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:55805200-55813600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:55805200-55817200	Weak transcription	Fetal Intestine Large	intestine
45	chr14:55805400-55808200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:55805400-55810400	Weak transcription	Stomach Mucosa	stomach
47	chr14:55805400-55812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:55805600-55808000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:55805800-55807400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:55805800-55808000	Enhancers	Rectal Mucosa Donor 29	rectum

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