Variant report

Variant	rs55739639
Chromosome Location	chr14:64861010-64861011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64860062..64863204-chr14:64866083..64868815,3	MCF-7	breast:
2	chr14:64852898..64856787-chr14:64858975..64865298,10	K562	blood:
3	chr14:64859675..64862382-chr14:64968999..64972382,4	MCF-7	breast:
4	chr14:64859490..64861668-chr14:64868131..64870784,2	MCF-7	breast:
5	chr14:64861003..64862910-chr14:64969282..64971568,2	K562	blood:
6	chr14:64852868..64856787-chr14:64858237..64862286,8	K562	blood:
7	chr14:64860617..64863426-chr14:64887492..64890180,3	MCF-7	breast:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12878181	1.00[ASN][1000 genomes]
rs12879234	1.00[ASN][1000 genomes]
rs1571511	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983737	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983743	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983745	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987978	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987981	1.00[ASN][1000 genomes]
rs2987985	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262226	1.00[ASN][1000 genomes]
rs4899134	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902280	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55795508	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857324	1.00[ASN][1000 genomes]
rs71416332	1.00[ASN][1000 genomes]
rs8003379	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:114 , 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	chr14:64856200-64861200	Weak transcription	Brain Substantia Nigra	brain
5	chr14:64856200-64867200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:64856200-64870400	Weak transcription	Fetal Brain Female	brain
7	chr14:64856200-64870400	Weak transcription	Fetal Intestine Large	intestine
8	chr14:64856200-64882200	Weak transcription	HSMMtube	muscle
9	chr14:64856200-64883800	Weak transcription	Esophagus	oesophagus
10	chr14:64856200-64885600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:64856200-64886400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
13	chr14:64856400-64861400	Weak transcription	Colonic Mucosa	Colon
14	chr14:64856400-64870400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:64856400-64870600	Weak transcription	Psoas Muscle	Psoas
16	chr14:64856400-64875800	Weak transcription	Thymus	Thymus
17	chr14:64856400-64877800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:64856400-64882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:64856600-64861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:64856600-64867600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:64856600-64870600	Weak transcription	NH-A	brain
22	chr14:64856600-64879400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:64856800-64862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64856800-64867200	Weak transcription	Brain Germinal Matrix	brain
25	chr14:64856800-64867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:64856800-64868400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr14:64856800-64868400	Weak transcription	Osteobl	bone
28	chr14:64856800-64868600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:64856800-64868600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:64856800-64870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:64856800-64870600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:64856800-64877800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:64856800-64881800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:64856800-64881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:64856800-64882000	Weak transcription	Fetal Lung	lung
36	chr14:64856800-64882000	Weak transcription	NHLF	lung
37	chr14:64856800-64885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:64857000-64862800	Strong transcription	A549	lung
39	chr14:64857000-64867400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:64857000-64868800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:64857000-64870600	Weak transcription	NHDF-Ad	bronchial
42	chr14:64857000-64881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:64857200-64880400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:64857800-64861800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:64858000-64870600	Weak transcription	Fetal Kidney	kidney
46	chr14:64858600-64862400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:64858600-64868600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:64858600-64870600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:64858600-64872200	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:64858800-64861200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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