Variant report

Variant	rs2093209
Chromosome Location	chr14:64859884-64859885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64852898..64856787-chr14:64858975..64865298,10	K562	blood:
2	chr14:64859675..64862382-chr14:64968999..64972382,4	MCF-7	breast:
3	chr14:64859490..64861668-chr14:64868131..64870784,2	MCF-7	breast:
4	chr14:64857964..64859917-chr14:64874810..64877403,2	MCF-7	breast:
5	chr14:64852868..64856787-chr14:64858237..64862286,8	K562	blood:
6	chr14:64857748..64860531-chr14:64970254..64972239,2	K562	blood:
7	chr14:64802845..64807201-chr14:64857442..64860661,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214770	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10149005	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12100648	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1256094	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1256096	0.81[EUR][1000 genomes]
rs1256103	0.81[EUR][1000 genomes]
rs1256104	0.81[EUR][1000 genomes]
rs1256105	0.81[EUR][1000 genomes]
rs12591015	0.86[AMR][1000 genomes]
rs1266976	0.81[EUR][1000 genomes]
rs1956545	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2357482	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2983735	0.92[ASN][1000 genomes]
rs2983740	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4899135	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902278	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902281	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902282	0.89[EUR][1000 genomes]
rs7144437	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7145462	0.90[AMR][1000 genomes];0.89[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856000-64869800	Weak transcription	Placenta	Placenta
2	chr14:64856000-64886200	Weak transcription	Fetal Brain Male	brain
3	chr14:64856000-64913000	Weak transcription	Small Intestine	intestine
4	chr14:64856200-64860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:64856200-64860200	Weak transcription	Ovary	ovary
6	chr14:64856200-64860200	Weak transcription	Right Ventricle	heart
7	chr14:64856200-64860400	Weak transcription	Spleen	Spleen
8	chr14:64856200-64861200	Weak transcription	Brain Substantia Nigra	brain
9	chr14:64856200-64867200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:64856200-64870400	Weak transcription	Fetal Brain Female	brain
11	chr14:64856200-64870400	Weak transcription	Fetal Intestine Large	intestine
12	chr14:64856200-64882200	Weak transcription	HSMMtube	muscle
13	chr14:64856200-64883800	Weak transcription	Esophagus	oesophagus
14	chr14:64856200-64885600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:64856200-64886400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
17	chr14:64856400-64860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:64856400-64860200	Weak transcription	Gastric	stomach
19	chr14:64856400-64861400	Weak transcription	Colonic Mucosa	Colon
20	chr14:64856400-64870400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:64856400-64870600	Weak transcription	Psoas Muscle	Psoas
22	chr14:64856400-64875800	Weak transcription	Thymus	Thymus
23	chr14:64856400-64877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:64856400-64882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:64856600-64860200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:64856600-64861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:64856600-64867600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:64856600-64870600	Weak transcription	NH-A	brain
29	chr14:64856600-64879400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:64856800-64860200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:64856800-64860200	Weak transcription	Fetal Heart	heart
32	chr14:64856800-64862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:64856800-64867200	Weak transcription	Brain Germinal Matrix	brain
34	chr14:64856800-64867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:64856800-64868400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:64856800-64868400	Weak transcription	Osteobl	bone
37	chr14:64856800-64868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:64856800-64868600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:64856800-64870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:64856800-64870600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:64856800-64877800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:64856800-64881800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:64856800-64881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:64856800-64882000	Weak transcription	Fetal Lung	lung
45	chr14:64856800-64882000	Weak transcription	NHLF	lung
46	chr14:64856800-64885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:64857000-64860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:64857000-64860400	Weak transcription	Primary T cells from cord blood	blood
49	chr14:64857000-64862800	Strong transcription	A549	lung
50	chr14:64857000-64867400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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