Variant report

Variant	rs66517376
Chromosome Location	chr14:68088580-68088581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68084874..68087347-chr14:68088536..68091014,3	MCF-7	breast:
2	chr14:68081591..68084164-chr14:68086995..68089181,2	K562	blood:
3	chr14:68087492..68090033-chr14:68140902..68143299,2	K562	blood:
4	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:
5	chr14:68087429..68090959-chr14:68140902..68143927,4	K562	blood:
6	chr14:68087557..68089288-chr14:68096607..68098723,2	K562	blood:
7	chr14:68073077..68076511-chr14:68087971..68090364,3	K562	blood:
8	chr14:68065533..68067898-chr14:68086654..68089518,2	K562	blood:
9	chr14:68086481..68089265-chr14:68117411..68120883,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000258626	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11628590	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628666	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12433361	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13343243	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17249437	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1885042	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742878	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759757	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759759	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4902501	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902503	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573787	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573788	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67778250	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7151920	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7161243	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012815	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8013117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014035	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014048	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68089200	Weak transcription	HSMMtube	muscle
2	chr14:68087200-68109600	Weak transcription	Gastric	stomach
3	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
4	chr14:68087400-68089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:68087400-68089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68087400-68089000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:68087400-68089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:68087400-68089400	Weak transcription	HSMM	muscle
9	chr14:68087600-68088800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68087600-68088800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:68087600-68088800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:68087600-68089000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:68087600-68089000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:68087600-68089000	Weak transcription	Brain Substantia Nigra	brain
15	chr14:68087600-68089000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:68087600-68089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:68087600-68089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:68087600-68089200	Weak transcription	Adipose Nuclei	Adipose
19	chr14:68087600-68089200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:68087600-68089200	Weak transcription	NHLF	lung
21	chr14:68087600-68089400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:68087600-68089400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:68087600-68089400	Weak transcription	Placenta	Placenta
24	chr14:68087600-68089400	Weak transcription	Small Intestine	intestine
25	chr14:68087600-68089400	Weak transcription	Spleen	Spleen
26	chr14:68087600-68089600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:68087600-68089800	Weak transcription	Left Ventricle	heart
28	chr14:68087600-68091600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:68087600-68097400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:68087800-68088800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:68087800-68088800	Weak transcription	Dnd41	blood
32	chr14:68087800-68088800	Weak transcription	Hela-S3	cervix
33	chr14:68087800-68089000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:68087800-68089000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:68087800-68089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:68087800-68089000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:68087800-68089000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:68087800-68089000	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:68087800-68089200	Weak transcription	Fetal Heart	heart
40	chr14:68087800-68089200	Weak transcription	Osteobl	bone
41	chr14:68087800-68090800	Enhancers	HepG2	liver
42	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:68088000-68088600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:68088000-68088600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:68088000-68088600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:68088000-68088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:68088000-68088800	Enhancers	Fetal Brain Male	brain
48	chr14:68088000-68088800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr14:68088000-68088800	Weak transcription	K562	blood
50	chr14:68088000-68089000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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