Variant report

Variant	rs8018378
Chromosome Location	chr14:39626409-39626410
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	chr14:39624043..39626785-chr14:39637503..39639794,2	K562	blood:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12101069	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291541	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291552	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73291555	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018196	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9671480	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9671928	0.93[AFR][1000 genomes];1.00[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv977459	chr14:39623512-39627427	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
2	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
4	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
5	chr14:39592800-39626600	Weak transcription	NHLF	lung
6	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
7	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:39608200-39630600	Weak transcription	NHEK	skin
9	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:39611400-39638000	Weak transcription	A549	lung
12	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:39614200-39628200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:39615200-39627600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:39615800-39627000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr14:39616200-39627200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:39616200-39627600	Strong transcription	HepG2	liver
21	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:39616200-39637000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:39616400-39627000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:39616800-39629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:39616800-39629600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:39616800-39632200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:39616800-39636400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr14:39617000-39628000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:39617000-39632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:39617000-39634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:39617000-39636200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:39617200-39627000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:39617200-39627000	Strong transcription	Fetal Brain Female	brain
36	chr14:39617200-39627200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:39617200-39627600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:39617200-39628000	Strong transcription	Adipose Nuclei	Adipose
39	chr14:39617200-39628000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:39617200-39635800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:39617600-39632400	Strong transcription	Fetal Thymus	thymus
42	chr14:39617600-39637800	Weak transcription	Psoas Muscle	Psoas
43	chr14:39617800-39637400	Weak transcription	K562	blood
44	chr14:39619600-39628200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:39619600-39636200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:39619600-39637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:39619800-39627000	Strong transcription	Lung	lung
48	chr14:39619800-39636200	Strong transcription	Fetal Stomach	stomach
49	chr14:39620000-39627200	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:39620000-39630000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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