Variant report

Variant	rs74065820
Chromosome Location	chr14:78354354-78354355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78348937..78352037-chr14:78352512..78354999,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10141302	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10151802	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621071	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622333	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11623841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11624543	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625402	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17106501	0.84[AFR][1000 genomes]
rs17753195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1972615	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28566696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28653270	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58092208	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58940899	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60021537	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60330258	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7359160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063702	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065815	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323655	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9323656	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
2	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
4	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
5	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
7	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:78349200-78355200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:78349200-78355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:78349200-78356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:78349200-78356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:78349200-78358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:78349400-78354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:78349400-78355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
18	chr14:78349800-78358400	Weak transcription	Stomach Mucosa	stomach
19	chr14:78350000-78355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:78350200-78355600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:78350200-78355800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:78350400-78354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:78350400-78354400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:78350400-78361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:78350600-78354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:78350600-78365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:78350800-78375800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:78350800-78376200	Weak transcription	Brain Angular Gyrus	brain
29	chr14:78351200-78356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:78351400-78354600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:78352200-78356400	Weak transcription	HMEC	breast
32	chr14:78352600-78354400	Strong transcription	Spleen	Spleen
33	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr14:78352800-78354600	Strong transcription	Fetal Stomach	stomach
35	chr14:78352800-78355000	Strong transcription	Esophagus	oesophagus
36	chr14:78352800-78356600	Strong transcription	Primary T cells from cord blood	blood
37	chr14:78353000-78354800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:78353000-78356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:78353200-78356400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:78353400-78354400	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:78353400-78354600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:78353400-78354800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:78353400-78354800	ZNF genes & repeats	Aorta	Aorta
44	chr14:78353400-78355000	Strong transcription	Fetal Intestine Small	intestine
45	chr14:78353400-78355000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:78353400-78355000	Strong transcription	Ovary	ovary
47	chr14:78353400-78355000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:78353400-78356000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:78353400-78356800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:78353400-78358200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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