Variant report

Variant	rs2588829
Chromosome Location	chr14:68612920-68612921
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68610567..68614187-chr14:69258948..69261622,5	MCF-7	breast:
2	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
3	chr14:68610876..68614482-chr14:68656921..68659073,4	MCF-7	breast:
4	chr14:68610783..68613857-chr14:68656944..68660243,4	MCF-7	breast:
5	chr14:68604583..68613347-chr14:69257128..69263457,24	MCF-7	breast:
6	chr14:68612521..68615403-chr14:68749154..68751195,2	MCF-7	breast:
7	chr14:68408049..68410291-chr14:68611214..68613835,3	MCF-7	breast:
8	chr14:68612130..68613660-chr14:68774074..68776963,2	MCF-7	breast:
9	chr14:68611791..68614328-chr14:68697550..68699528,2	MCF-7	breast:
10	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1022978	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	1.00[ASN][1000 genomes]
rs1080321	0.86[ASN][1000 genomes]
rs12432006	0.85[ASN][1000 genomes]
rs12437043	0.80[EUR][1000 genomes]
rs1274637	1.00[ASN][1000 genomes]
rs1274638	1.00[ASN][1000 genomes]
rs1274639	1.00[ASN][1000 genomes]
rs1274640	1.00[ASN][1000 genomes]
rs1274641	1.00[ASN][1000 genomes]
rs1274642	1.00[ASN][1000 genomes]
rs1274643	1.00[ASN][1000 genomes]
rs1274644	1.00[ASN][1000 genomes]
rs1274645	1.00[ASN][1000 genomes]
rs1274646	1.00[ASN][1000 genomes]
rs1274647	1.00[ASN][1000 genomes]
rs1274648	1.00[ASN][1000 genomes]
rs1274649	1.00[ASN][1000 genomes]
rs1274650	1.00[ASN][1000 genomes]
rs1274651	1.00[ASN][1000 genomes]
rs1274652	1.00[ASN][1000 genomes]
rs1274653	1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[ASN][1000 genomes]
rs1274656	1.00[ASN][1000 genomes]
rs1274657	1.00[ASN][1000 genomes]
rs1274658	1.00[ASN][1000 genomes]
rs1274659	1.00[ASN][1000 genomes]
rs1274661	1.00[ASN][1000 genomes]
rs12894297	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290939	0.82[ASN][1000 genomes]
rs1295780	1.00[ASN][1000 genomes]
rs1295781	1.00[ASN][1000 genomes]
rs1295782	1.00[ASN][1000 genomes]
rs1296527	1.00[ASN][1000 genomes]
rs1298340	1.00[ASN][1000 genomes]
rs1299581	1.00[ASN][1000 genomes]
rs1314912	0.86[ASN][1000 genomes]
rs1314913	0.86[ASN][1000 genomes]
rs1314914	0.86[ASN][1000 genomes]
rs1314915	0.86[ASN][1000 genomes]
rs1314918	0.86[ASN][1000 genomes]
rs1314919	0.86[ASN][1000 genomes]
rs1315984	0.86[ASN][1000 genomes]
rs1316014	0.86[ASN][1000 genomes]
rs1316118	0.86[ASN][1000 genomes]
rs1316170	0.86[ASN][1000 genomes]
rs1467673	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536455	1.00[ASN][1000 genomes]
rs1555944	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1555945	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744947	1.00[ASN][1000 genomes]
rs1744949	1.00[ASN][1000 genomes]
rs1751381	1.00[ASN][1000 genomes]
rs1751382	1.00[ASN][1000 genomes]
rs1951410	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1952245	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952246	0.91[EUR][1000 genomes]
rs1958111	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958112	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1958113	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.91[EUR][1000 genomes]
rs1958116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980850	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243905	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[ASN][1000 genomes]
rs2478777	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588806	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588808	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	1.00[ASN][1000 genomes]
rs2588813	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588814	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588815	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588819	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588821	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2588823	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588825	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588826	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588827	0.93[EUR][1000 genomes]
rs2588828	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588830	0.86[EUR][1000 genomes]
rs2588831	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2588832	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588833	0.82[EUR][1000 genomes]
rs2588834	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767366	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2767367	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2767368	0.88[EUR][1000 genomes]
rs2767377	1.00[ASN][1000 genomes]
rs2767378	1.00[ASN][1000 genomes]
rs2767379	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767382	0.90[EUR][1000 genomes]
rs2767383	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419450	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs424032	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs437585	0.82[EUR][1000 genomes]
rs440627	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573817	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7141160	0.81[EUR][1000 genomes]
rs7141450	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7156822	0.82[AMR][1000 genomes]
rs725453	1.00[ASN][1000 genomes]
rs8011527	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8014524	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs959039	0.88[AMR][1000 genomes];0.93[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	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68601800-68613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:68601800-68614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:68601800-68614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:68601800-68615600	Enhancers	HMEC	breast
5	chr14:68603800-68614000	Enhancers	Fetal Intestine Small	intestine
6	chr14:68603800-68614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:68603800-68614600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:68603800-68614800	Enhancers	HSMM	muscle
9	chr14:68604200-68614800	Enhancers	NHLF	lung
10	chr14:68604400-68613200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:68604800-68613000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68605000-68614800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:68605800-68613800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:68606200-68613200	Enhancers	Osteobl	bone
15	chr14:68606200-68614000	Enhancers	Fetal Muscle Leg	muscle
16	chr14:68606400-68613400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:68606800-68614800	Enhancers	NHDF-Ad	bronchial
18	chr14:68607200-68623600	Weak transcription	Ovary	ovary
19	chr14:68607600-68615000	Enhancers	NHEK	skin
20	chr14:68607800-68616600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:68608400-68613400	Weak transcription	Fetal Heart	heart
22	chr14:68608400-68613800	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:68608400-68613800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:68609600-68613000	Enhancers	Pancreas	Pancrea
25	chr14:68609600-68613600	Enhancers	Adipose Nuclei	Adipose
26	chr14:68609600-68614000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:68609600-68614000	Enhancers	Small Intestine	intestine
28	chr14:68609600-68614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:68609800-68613000	Enhancers	Stomach Smooth Muscle	stomach
30	chr14:68609800-68613200	Enhancers	HSMMtube	muscle
31	chr14:68609800-68613600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:68609800-68613800	Enhancers	Fetal Stomach	stomach
33	chr14:68609800-68614800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:68610000-68613000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr14:68610000-68613200	Enhancers	NH-A	brain
36	chr14:68610200-68613000	Enhancers	HUVEC	blood vessel
37	chr14:68610200-68614400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:68610600-68613000	Weak transcription	Gastric	stomach
39	chr14:68610600-68614200	Enhancers	Colon Smooth Muscle	Colon
40	chr14:68611000-68613400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:68611000-68614400	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:68611200-68613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:68611400-68613400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:68611600-68613800	Enhancers	Psoas Muscle	Psoas
45	chr14:68612000-68613000	Weak transcription	Colonic Mucosa	Colon
46	chr14:68612000-68613200	Weak transcription	Hela-S3	cervix
47	chr14:68612000-68613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:68612000-68613400	Weak transcription	Fetal Kidney	kidney
49	chr14:68612000-68613400	Weak transcription	Fetal Lung	lung
50	chr14:68612000-68613400	Enhancers	A549	lung

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