Variant report

Variant	rs8011527
Chromosome Location	chr14:68638685-68638686
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr14:68637720..68641330-chr14:68657106..68660003,5	MCF-7	breast:
8	chr14:68633202..68635028-chr14:68637534..68639767,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1022978	0.91[EUR][1000 genomes]
rs12437043	0.91[AMR][1000 genomes]
rs12894297	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1467673	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1555944	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555945	0.91[EUR][1000 genomes]
rs17104908	0.81[AMR][1000 genomes]
rs1952245	0.92[EUR][1000 genomes]
rs1952246	0.90[EUR][1000 genomes]
rs1958111	0.92[EUR][1000 genomes]
rs1958112	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958113	0.92[EUR][1000 genomes]
rs1958114	0.81[AFR][1000 genomes]
rs1958115	0.90[EUR][1000 genomes]
rs1958116	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1980850	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2038979	0.90[EUR][1000 genomes]
rs2243905	0.91[EUR][1000 genomes]
rs2254173	0.86[EUR][1000 genomes]
rs2478777	0.93[EUR][1000 genomes]
rs2588806	0.91[EUR][1000 genomes]
rs2588807	0.91[EUR][1000 genomes]
rs2588808	0.90[EUR][1000 genomes]
rs2588813	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588814	0.90[EUR][1000 genomes]
rs2588815	0.92[EUR][1000 genomes]
rs2588816	0.92[EUR][1000 genomes]
rs2588818	0.92[EUR][1000 genomes]
rs2588819	0.90[EUR][1000 genomes]
rs2588820	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2588821	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2588823	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2588824	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588825	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588826	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588827	0.89[EUR][1000 genomes]
rs2588828	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588829	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588830	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2588831	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2588832	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588833	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588834	0.81[EUR][1000 genomes]
rs2588835	0.83[AMR][1000 genomes]
rs2767365	0.80[EUR][1000 genomes]
rs2767366	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2767367	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2767368	0.84[EUR][1000 genomes]
rs2767377	0.80[AMR][1000 genomes]
rs2767379	0.91[EUR][1000 genomes]
rs2767382	0.90[EUR][1000 genomes]
rs2767383	0.90[EUR][1000 genomes]
rs2767384	0.90[EUR][1000 genomes]
rs365934	0.81[AMR][1000 genomes]
rs372143	0.81[AMR][1000 genomes]
rs373918	0.81[AMR][1000 genomes]
rs378408	0.81[AMR][1000 genomes]
rs401021	0.81[AMR][1000 genomes]
rs411547	0.81[AMR][1000 genomes]
rs424032	0.87[AMR][1000 genomes]
rs431649	0.81[AMR][1000 genomes]
rs435620	0.81[AMR][1000 genomes]
rs437585	0.81[EUR][1000 genomes]
rs6573817	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156822	0.84[AMR][1000 genomes]
rs959039	0.92[EUR][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:36 , 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	chr14:68632800-68639400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68634400-68640200	Weak transcription	Colonic Mucosa	Colon
7	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68635800-68638800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:68636000-68638800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:68636000-68638800	Weak transcription	Fetal Stomach	stomach
11	chr14:68636000-68640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:68636000-68644000	Weak transcription	Psoas Muscle	Psoas
13	chr14:68636200-68638800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:68636200-68638800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:68636200-68639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:68636200-68644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68636200-68648000	Weak transcription	HSMM	muscle
18	chr14:68636400-68639600	Weak transcription	Ovary	ovary
19	chr14:68636600-68638800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:68636600-68640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:68637000-68638800	Weak transcription	Fetal Kidney	kidney
22	chr14:68637000-68638800	Weak transcription	Fetal Lung	lung
23	chr14:68637000-68639600	Weak transcription	Small Intestine	intestine
24	chr14:68637200-68638800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:68637200-68639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:68637800-68638800	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:68637800-68638800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:68637800-68638800	Enhancers	A549	lung
29	chr14:68637800-68641200	Weak transcription	Gastric	stomach
30	chr14:68638000-68639600	Weak transcription	Osteobl	bone
31	chr14:68638200-68638800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:68638200-68638800	Enhancers	Liver	Liver
33	chr14:68638600-68640200	Flanking Active TSS	HepG2	liver
34	chr14:68638600-68640800	Weak transcription	Pancreas	Pancrea
35	chr14:68638600-68644000	Weak transcription	Esophagus	oesophagus
36	chr14:68638600-68645600	Enhancers	Rectal Smooth Muscle	rectum

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