Variant report

Variant	rs73278655
Chromosome Location	chr14:64006560-64006561
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	chr14:64004593..64008285-chr14:64011682..64013819,3	K562	blood:
2	chr14:64002202..64003866-chr14:64005785..64007726,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10129182	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135999	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220496	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11158494	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255728	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255729	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255732	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255734	1.00[ASN][1000 genomes]
rs1255736	1.00[ASN][1000 genomes]
rs1255744	1.00[ASN][1000 genomes]
rs1255745	1.00[ASN][1000 genomes]
rs1255747	1.00[ASN][1000 genomes]
rs1255754	0.93[EUR][1000 genomes]
rs1255780	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1255783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255784	0.95[EUR][1000 genomes]
rs17101259	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420069	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607114	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708979	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744493	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61983965	1.00[ASN][1000 genomes]
rs61995015	1.00[ASN][1000 genomes]
rs6573515	1.00[ASN][1000 genomes]
rs7141832	1.00[ASN][1000 genomes]
rs7150291	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156664	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158658	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74056132	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056138	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056139	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056141	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003274	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005767	1.00[ASN][1000 genomes]
rs8009130	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021183	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964955	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
2	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
3	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
4	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
5	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:63980800-64008000	Weak transcription	Small Intestine	intestine
7	chr14:63981800-64008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:63988800-64008200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:63990000-64008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:63991400-64007800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:63991600-64008200	Weak transcription	Colonic Mucosa	Colon
12	chr14:63991800-64008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:63991800-64008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:63991800-64008800	Weak transcription	Gastric	stomach
15	chr14:63991800-64008800	Weak transcription	Pancreas	Pancrea
16	chr14:63992000-64007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:63992000-64008800	Weak transcription	Psoas Muscle	Psoas
18	chr14:63992200-64007600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:63992400-64008000	Weak transcription	Right Ventricle	heart
20	chr14:63992600-64007600	Weak transcription	Fetal Heart	heart
21	chr14:63996800-64008000	Weak transcription	Stomach Mucosa	stomach
22	chr14:63997400-64006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:63997800-64006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:63998400-64007000	Strong transcription	Fetal Thymus	thymus
25	chr14:63998600-64006600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr14:63998600-64006800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr14:63998600-64007600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:63998800-64006600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr14:63998800-64006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:63999200-64006800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:63999200-64007000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:63999200-64007000	Strong transcription	Dnd41	blood
33	chr14:63999400-64006800	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:63999600-64006800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:63999800-64006800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr14:63999800-64008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:63999800-64009000	Weak transcription	Spleen	Spleen
38	chr14:64000200-64006800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:64000200-64006800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:64000400-64006600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:64000400-64006600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:64000400-64006800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:64000600-64006600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:64000600-64006600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:64000600-64006800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:64000800-64006600	Strong transcription	Osteobl	bone
47	chr14:64000800-64006800	Strong transcription	Placenta	Placenta
48	chr14:64001600-64006800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:64002000-64006600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:64002000-64008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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