Variant report

Variant	rs2588828
Chromosome Location	chr14:68613481-68613482
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: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	chr14:68610567..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	chr14:68612521..68615403-chr14:68749154..68751195,2	MCF-7	breast:
6	chr14:68408049..68410291-chr14:68611214..68613835,3	MCF-7	breast:
7	chr14:68612130..68613660-chr14:68774074..68776963,2	MCF-7	breast:
8	chr14:68611791..68614328-chr14:68697550..68699528,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1022978	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	1.00[JPT][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274641	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1274642	1.00[ASN][1000 genomes]
rs1274643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274644	1.00[ASN][1000 genomes]
rs1274645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274646	1.00[CHB][hapmap];1.00[JPT][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274652	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274653	1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274656	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274661	1.00[ASN][1000 genomes]
rs12894297	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1295780	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1295781	1.00[ASN][1000 genomes]
rs1295782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1296527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1298340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1299581	1.00[ASN][1000 genomes]
rs1314912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314919	0.86[ASN][1000 genomes]
rs1315984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1467673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536455	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1555944	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1555945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104908	0.84[CEU][hapmap]
rs17105269	1.00[JPT][hapmap]
rs1744947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1751381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1751382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1951410	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1951631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1952245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952246	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs1958111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958112	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1958113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs1958116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2478777	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588808	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2588813	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2588814	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2588823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588826	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588827	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2588829	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	0.85[EUR][1000 genomes]
rs2588832	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2588833	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2588834	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767366	0.84[EUR][1000 genomes]
rs2767367	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2767368	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2767377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767379	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767382	0.90[EUR][1000 genomes]
rs2767383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs372143	0.84[CEU][hapmap]
rs373918	0.84[CEU][hapmap]
rs401021	0.84[CEU][hapmap]
rs411547	0.84[CEU][hapmap]
rs419450	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs424032	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs431649	0.84[CEU][hapmap]
rs435620	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs437585	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs440627	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573817	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7141160	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7141450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7155764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7156822	0.81[AMR][1000 genomes]
rs725453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8011527	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8014524	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs959039	0.89[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:56 , 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	chr14:68605000-68614800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:68605800-68613800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:68606200-68614000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:68606800-68614800	Enhancers	NHDF-Ad	bronchial
14	chr14:68607200-68623600	Weak transcription	Ovary	ovary
15	chr14:68607600-68615000	Enhancers	NHEK	skin
16	chr14:68607800-68616600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:68608400-68613800	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:68608400-68613800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr14:68609600-68613600	Enhancers	Adipose Nuclei	Adipose
20	chr14:68609600-68614000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:68609600-68614000	Enhancers	Small Intestine	intestine
22	chr14:68609600-68614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:68609800-68613600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:68609800-68613800	Enhancers	Fetal Stomach	stomach
25	chr14:68609800-68614800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:68610200-68614400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:68610600-68614200	Enhancers	Colon Smooth Muscle	Colon
28	chr14:68611000-68614400	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:68611600-68613800	Enhancers	Psoas Muscle	Psoas
30	chr14:68612000-68614400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:68612200-68613600	Weak transcription	Stomach Mucosa	stomach
32	chr14:68612200-68615200	Weak transcription	Fetal Thymus	thymus
33	chr14:68612200-68616600	Weak transcription	Thymus	Thymus
34	chr14:68612600-68614200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:68612600-68614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:68612600-68628000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:68612800-68613600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:68612800-68613800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:68612800-68614400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:68613000-68613800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:68613000-68614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:68613000-68631200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:68613200-68613600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:68613200-68613600	Flanking Active TSS	NH-A	brain
45	chr14:68613200-68613600	Flanking Active TSS	Osteobl	bone
46	chr14:68613200-68613800	Enhancers	Fetal Intestine Large	intestine
47	chr14:68613200-68614000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:68613200-68614800	Enhancers	Hela-S3	cervix
49	chr14:68613400-68613600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:68613400-68613600	Enhancers	HUES64 Cell Line	embryonic stem cell

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