Variant report

Variant	rs73288065
Chromosome Location	chr14:68639422-68639423
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
2	chr14:68637800..68639810-chr14:68738293..68741236,2	MCF-7	breast:
3	chr14:68637415..68639696-chr14:69260501..69262950,2	MCF-7	breast:
4	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
5	chr14:68636645..68639449-chr14:68640547..68642862,3	MCF-7	breast:
6	chr14:68637971..68639670-chr14:68666977..68669531,2	MCF-7	breast:
7	chr14:68408949..68410726-chr14:68639004..68640689,2	MCF-7	breast:
8	chr14:68637720..68641330-chr14:68657106..68660003,5	MCF-7	breast:
9	chr14:68633202..68635028-chr14:68637534..68639767,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34144798	1.00[AMR][1000 genomes]
rs34777538	1.00[AMR][1000 genomes]
rs35050678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902572	1.00[AMR][1000 genomes]
rs56801190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56933151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57556822	1.00[AMR][1000 genomes]
rs57745459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57826383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955495	1.00[AMR][1000 genomes]
rs58407913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60271256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60491097	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166822	1.00[AMR][1000 genomes]
rs61169935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61290854	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61512918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274116	1.00[AMR][1000 genomes]
rs73274136	1.00[AMR][1000 genomes]
rs73274156	1.00[AMR][1000 genomes]
rs73274164	1.00[AMR][1000 genomes]
rs73282473	0.86[AFR][1000 genomes]
rs73282490	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282491	1.00[AMR][1000 genomes]
rs73284247	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284295	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286265	1.00[AMR][1000 genomes]
rs73286273	1.00[AMR][1000 genomes]
rs73286279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058874	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68629600-68642200	Enhancers	Fetal Intestine Large	intestine
2	chr14:68629600-68642400	Enhancers	Fetal Intestine Small	intestine
3	chr14:68630600-68642400	Enhancers	Stomach Mucosa	stomach
4	chr14:68632400-68641200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:68634400-68640200	Weak transcription	Colonic Mucosa	Colon
6	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68636000-68640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:68636000-68644000	Weak transcription	Psoas Muscle	Psoas
9	chr14:68636200-68644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68636200-68648000	Weak transcription	HSMM	muscle
11	chr14:68636400-68639600	Weak transcription	Ovary	ovary
12	chr14:68636600-68640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:68637000-68639600	Weak transcription	Small Intestine	intestine
14	chr14:68637800-68641200	Weak transcription	Gastric	stomach
15	chr14:68638000-68639600	Weak transcription	Osteobl	bone
16	chr14:68638600-68640200	Flanking Active TSS	HepG2	liver
17	chr14:68638600-68640800	Weak transcription	Pancreas	Pancrea
18	chr14:68638600-68644000	Weak transcription	Esophagus	oesophagus
19	chr14:68638600-68645600	Enhancers	Rectal Smooth Muscle	rectum
20	chr14:68638800-68639800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:68638800-68640400	Enhancers	Fetal Lung	lung
22	chr14:68638800-68640400	Enhancers	Fetal Stomach	stomach
23	chr14:68638800-68640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:68638800-68641000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr14:68638800-68641000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:68638800-68641000	Enhancers	Stomach Smooth Muscle	stomach
27	chr14:68638800-68641000	Flanking Active TSS	A549	lung
28	chr14:68638800-68641600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:68638800-68642200	Enhancers	Fetal Kidney	kidney
30	chr14:68638800-68645800	Enhancers	Colon Smooth Muscle	Colon
31	chr14:68639000-68639800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:68639000-68640000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:68639000-68641000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:68639200-68640200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:68639200-68641200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:68639400-68639800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:68639400-68639800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:68639400-68639800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:68639400-68640600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:68639400-68640600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:68639400-68641400	Enhancers	Liver	Liver

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