Variant report

Variant	rs59993918
Chromosome Location	chr14:68830275-68830276
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68605282..68608015-chr14:68828516..68831935,3	MCF-7	breast:
2	chr14:68829073..68831953-chr14:68862651..68864586,2	MCF-7	breast:
3	chr14:68715036..68715912-chr14:68829845..68830845,3	MCF-7	breast:
4	chr14:68773574..68776467-chr14:68830101..68831913,2	MCF-7	breast:
5	chr14:68829763..68832771-chr14:68932528..68934610,3	MCF-7	breast:
6	chr14:68715271..68717103-chr14:68828305..68830296,2	MCF-7	breast:
7	chr14:68741974..68743530-chr14:68829514..68831281,2	MCF-7	breast:
8	chr14:68827778..68831796-chr14:69251511..69256304,4	MCF-7	breast:
9	chr14:68829901..68834300-chr14:68923345..68927378,4	MCF-7	breast:
10	chr14:68829028..68831413-chr14:69258975..69262628,4	MCF-7	breast:
11	chr14:68830049..68833032-chr14:68833353..68836919,3	MCF-7	breast:
12	chr14:68410593..68411154-chr14:68830174..68830861,2	MCF-7	breast:
13	chr14:68827902..68830472-chr14:68830504..68833278,2	MCF-7	breast:
14	chr14:68828824..68831409-chr14:69259339..69261614,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11627490	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1885014	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1977211	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2009721	0.86[AMR][1000 genomes]
rs2208396	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2331693	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2877461	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3784113	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3784115	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3950069	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55749276	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58339869	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61986905	0.96[EUR][1000 genomes]
rs61986906	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61986910	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7149637	0.82[EUR][1000 genomes]
rs8018477	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8021199	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 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	chr14:68825600-68832000	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:68826200-68835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:68827000-68831800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:68827200-68830400	Weak transcription	Fetal Kidney	kidney
5	chr14:68827200-68830600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:68827200-68831400	Weak transcription	Adipose Nuclei	Adipose
7	chr14:68827200-68831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:68827200-68831600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:68827200-68831600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68827200-68831800	Weak transcription	Gastric	stomach
11	chr14:68827200-68833000	Weak transcription	Psoas Muscle	Psoas
12	chr14:68827200-68833400	Weak transcription	Esophagus	oesophagus
13	chr14:68827200-68834200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68827200-68834400	Weak transcription	Small Intestine	intestine
15	chr14:68827200-68834800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:68827400-68830800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:68827400-68835000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:68827600-68830400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68827600-68830400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:68827600-68830600	Weak transcription	Aorta	Aorta
21	chr14:68827600-68831200	Weak transcription	Stomach Mucosa	stomach
22	chr14:68827800-68830400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:68828000-68830600	Weak transcription	Fetal Intestine Large	intestine
24	chr14:68828000-68830800	Weak transcription	HepG2	liver
25	chr14:68828000-68831400	Weak transcription	HSMM	muscle
26	chr14:68828200-68830400	Weak transcription	Brain Angular Gyrus	brain
27	chr14:68828200-68830400	Weak transcription	Right Atrium	heart
28	chr14:68828200-68830800	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:68828200-68831200	Weak transcription	NHLF	lung
30	chr14:68828200-68831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68828200-68831400	Weak transcription	HSMMtube	muscle
32	chr14:68828200-68835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:68828400-68830400	Weak transcription	Fetal Heart	heart
34	chr14:68828400-68831000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:68828400-68831000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:68828400-68831200	Enhancers	Primary B cells from cord blood	blood
37	chr14:68828400-68831200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:68828400-68831200	Weak transcription	NHDF-Ad	bronchial
39	chr14:68828400-68831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:68828400-68831400	Weak transcription	Hela-S3	cervix
41	chr14:68828400-68831400	Weak transcription	HMEC	breast
42	chr14:68828400-68831600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:68828400-68831800	Weak transcription	NHEK	skin
44	chr14:68828600-68831000	Weak transcription	Ovary	ovary
45	chr14:68828600-68831000	Weak transcription	Osteobl	bone
46	chr14:68828600-68831400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:68828600-68831400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:68828800-68831200	Weak transcription	HUVEC	blood vessel
49	chr14:68829600-68830400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:68829600-68830400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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