Variant report

Variant	rs2299917
Chromosome Location	chr14:78048464-78048465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10149237	0.82[ASN][1000 genomes]
rs10151331	0.83[ASN][1000 genomes]
rs10151712	0.83[ASN][1000 genomes]
rs10400797	0.83[ASN][1000 genomes]
rs10873307	0.82[ASN][1000 genomes]
rs11159280	0.82[ASN][1000 genomes]
rs12147112	0.83[ASN][1000 genomes]
rs12148048	0.81[ASN][1000 genomes]
rs12589986	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884431	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17106022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997562	0.83[ASN][1000 genomes]
rs2299919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299920	0.83[ASN][1000 genomes]
rs2299926	0.86[EUR][1000 genomes]
rs34278364	0.86[EUR][1000 genomes]
rs35503744	0.86[EUR][1000 genomes]
rs60287878	0.86[EUR][1000 genomes]
rs7156939	0.86[EUR][1000 genomes]
rs8018813	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1794863	chr14:78024926-78048715	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:78009800-78050800	Weak transcription	Psoas Muscle	Psoas
3	chr14:78013200-78066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:78016400-78061000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:78021800-78061000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:78021800-78068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:78021800-78071600	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:78022000-78060800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:78022400-78049000	Weak transcription	Right Ventricle	heart
10	chr14:78022400-78055000	Weak transcription	Colonic Mucosa	Colon
11	chr14:78030200-78056800	Weak transcription	HMEC	breast
12	chr14:78037600-78049000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:78040400-78051800	Weak transcription	HepG2	liver
14	chr14:78040600-78049000	Weak transcription	Ovary	ovary
15	chr14:78041600-78051000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:78042400-78049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78042400-78049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:78042400-78049000	Weak transcription	Gastric	stomach
19	chr14:78042400-78049200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:78042400-78051200	Weak transcription	Pancreas	Pancrea
21	chr14:78042400-78059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:78042400-78060800	Weak transcription	Aorta	Aorta
23	chr14:78042400-78066600	Weak transcription	Fetal Brain Female	brain
24	chr14:78042600-78061800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78043000-78059800	Weak transcription	A549	lung
26	chr14:78043200-78049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:78043200-78049000	Weak transcription	Brain Angular Gyrus	brain
28	chr14:78043200-78049000	Weak transcription	Esophagus	oesophagus
29	chr14:78043200-78058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:78043400-78049000	Weak transcription	Left Ventricle	heart
31	chr14:78043800-78052200	Weak transcription	Primary B cells from cord blood	blood
32	chr14:78043800-78060800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:78043800-78061000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:78043800-78061200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:78043800-78061800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:78044000-78060600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:78044000-78061000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:78044000-78061200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:78044400-78054600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:78044600-78053600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:78044600-78061000	Weak transcription	Thymus	Thymus
42	chr14:78045200-78049800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:78045800-78049000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:78046200-78049000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:78047000-78049000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:78047000-78049200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:78047000-78049200	Enhancers	Placenta	Placenta
48	chr14:78047000-78051200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:78047200-78049000	Weak transcription	Lung	lung
50	chr14:78047200-78055000	Weak transcription	Fetal Thymus	thymus

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