Variant report

Variant	rs73285211
Chromosome Location	chr14:70246429-70246430
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	chr14:70198415..70200093-chr14:70244638..70246535,2	K562	blood:
2	chr14:70244657..70246723-chr14:70256430..70258319,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11629222	0.85[AFR][1000 genomes]
rs1958085	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55663855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58458032	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60401303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343418	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7159823	0.85[AFR][1000 genomes]
rs73283349	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283383	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060546	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020042	0.86[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70235400-70248200	Strong transcription	Fetal Muscle Trunk	muscle
2	chr14:70235600-70247000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:70235800-70246600	Strong transcription	HSMMtube	muscle
4	chr14:70235800-70246800	Strong transcription	Primary hematopoietic stem cells	blood
5	chr14:70235800-70248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:70235800-70249200	Strong transcription	HSMM	muscle
7	chr14:70236000-70247000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:70236000-70247600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:70236000-70248800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:70236400-70248800	Strong transcription	Primary B cells from cord blood	blood
11	chr14:70236600-70247200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:70236600-70248200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:70236600-70248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:70236600-70248200	Strong transcription	HMEC	breast
15	chr14:70236600-70248400	Strong transcription	Fetal Lung	lung
16	chr14:70236600-70249400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:70236800-70246600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:70236800-70247200	Strong transcription	NH-A	brain
19	chr14:70236800-70247800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:70236800-70248000	Weak transcription	Right Atrium	heart
21	chr14:70236800-70248200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:70236800-70248400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70236800-70248600	Strong transcription	Fetal Brain Female	brain
24	chr14:70236800-70248800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:70236800-70249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:70236800-70249000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:70237000-70253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:70237200-70247000	Strong transcription	Osteobl	bone
29	chr14:70237200-70247400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:70237200-70248400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:70237400-70248800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:70237600-70246600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:70237600-70246800	Weak transcription	Fetal Heart	heart
34	chr14:70237600-70247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:70237600-70248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:70237600-70248800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:70237600-70248800	Strong transcription	Brain Substantia Nigra	brain
38	chr14:70237600-70248800	Strong transcription	NHLF	lung
39	chr14:70237600-70249000	Strong transcription	A549	lung
40	chr14:70237600-70253400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:70237800-70248400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:70237800-70248800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:70237800-70249000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:70238200-70247000	Strong transcription	HUVEC	blood vessel
45	chr14:70238200-70248600	Strong transcription	Fetal Intestine Large	intestine
46	chr14:70238200-70249000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
48	chr14:70238400-70254600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:70239600-70249000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:70239800-70247400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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