Variant report

Variant	rs28444723
Chromosome Location	chr14:68429642-68429643
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	chr14:68421973..68423827-chr14:68427831..68430773,2	K562	blood:
2	chr14:68428226..68431035-chr14:68543986..68545553,2	MCF-7	breast:
3	chr14:68406762..68412382-chr14:68425953..68431173,8	MCF-7	breast:
4	chr14:68428107..68429645-chr14:68432479..68434290,2	MCF-7	breast:
5	chr14:68429320..68431742-chr14:68549639..68551221,2	MCF-7	breast:
6	chr14:68428980..68431141-chr14:69262276..69265178,2	MCF-7	breast:
7	chr14:68407844..68414968-chr14:68428702..68432615,7	MCF-7	breast:
8	chr14:68424600..68427431-chr14:68428882..68430804,3	MCF-7	breast:
9	chr14:68428134..68434454-chr14:69257495..69262698,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10129355	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10129612	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10130829	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10132022	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133262	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133883	0.88[EUR][1000 genomes]
rs10136129	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136174	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136790	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136868	0.87[EUR][1000 genomes]
rs10139548	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10140097	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140282	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143455	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143843	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144995	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148527	0.98[ASN][1000 genomes]
rs10151115	0.80[EUR][1000 genomes]
rs10151387	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467735	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1080956	0.80[EUR][1000 genomes]
rs1080957	0.80[EUR][1000 genomes]
rs1080958	0.80[EUR][1000 genomes]
rs10873210	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158715	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158716	0.81[EUR][1000 genomes]
rs11158717	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11622135	0.83[EUR][1000 genomes]
rs11622243	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622787	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623355	0.88[EUR][1000 genomes]
rs11623984	0.88[EUR][1000 genomes]
rs11624609	0.82[EUR][1000 genomes]
rs11626280	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844529	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11846344	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848187	0.84[EUR][1000 genomes]
rs11848769	0.83[EUR][1000 genomes]
rs11850191	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850946	0.84[EUR][1000 genomes]
rs11852180	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852208	0.82[EUR][1000 genomes]
rs12100584	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431697	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432681	0.88[EUR][1000 genomes]
rs12435554	0.84[EUR][1000 genomes]
rs12437178	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437276	0.83[EUR][1000 genomes]
rs13329056	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104764	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104776	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17104800	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17192558	0.84[EUR][1000 genomes]
rs17192586	0.83[EUR][1000 genomes]
rs17783304	0.84[EUR][1000 genomes]
rs1950767	0.98[ASN][1000 genomes]
rs1980654	0.88[EUR][1000 genomes]
rs1980655	0.88[EUR][1000 genomes]
rs2009191	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093358	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2208596	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28470365	0.82[EUR][1000 genomes]
rs28474827	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28474995	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28488544	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509330	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2877369	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855496	0.98[ASN][1000 genomes]
rs33949561	0.84[AFR][1000 genomes]
rs34588410	0.83[EUR][1000 genomes]
rs34723132	0.84[EUR][1000 genomes]
rs4436722	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899231	0.80[EUR][1000 genomes]
rs4902533	0.98[ASN][1000 genomes]
rs4902535	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902536	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902538	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902539	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902540	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902544	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902545	0.81[EUR][1000 genomes]
rs57990032	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58151429	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60201005	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60415085	0.95[ASN][1000 genomes]
rs60471554	0.88[EUR][1000 genomes]
rs6573800	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573801	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573805	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573814	0.88[EUR][1000 genomes]
rs67566613	0.80[EUR][1000 genomes]
rs7142112	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142210	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142860	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145044	0.84[EUR][1000 genomes]
rs7145771	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146354	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151917	0.84[EUR][1000 genomes]
rs7154646	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155097	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155985	0.84[EUR][1000 genomes]
rs7157185	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158544	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160115	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161069	0.88[EUR][1000 genomes]
rs72725141	0.84[EUR][1000 genomes]
rs72725149	0.84[EUR][1000 genomes]
rs72725151	0.83[EUR][1000 genomes]
rs72725153	0.83[EUR][1000 genomes]
rs72725157	0.83[EUR][1000 genomes]
rs72725165	0.82[EUR][1000 genomes]
rs72725168	0.83[EUR][1000 genomes]
rs72725170	0.83[EUR][1000 genomes]
rs8006437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006492	0.88[EUR][1000 genomes]
rs8011621	0.81[EUR][1000 genomes]
rs8013677	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016525	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020795	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323502	0.84[AFR][1000 genomes]
rs9672142	0.93[EUR][1000 genomes];0.97[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68408600-68430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68408600-68435400	Weak transcription	Thymus	Thymus
3	chr14:68409400-68434200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68409600-68430600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:68412000-68431000	Weak transcription	Small Intestine	intestine
6	chr14:68427400-68430200	Enhancers	Duodenum Mucosa	Duodenum
7	chr14:68427400-68433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:68428000-68429800	Enhancers	Fetal Intestine Small	intestine
9	chr14:68428000-68430000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68428200-68432200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:68428400-68430800	Weak transcription	Fetal Stomach	stomach
12	chr14:68428600-68429800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr14:68428600-68433400	Enhancers	Colon Smooth Muscle	Colon
14	chr14:68428600-68435000	Enhancers	Fetal Intestine Large	intestine
15	chr14:68428800-68433000	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:68429000-68430000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:68429200-68430200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:68429200-68430200	Weak transcription	NHEK	skin
19	chr14:68429200-68430400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:68429200-68430400	Weak transcription	Stomach Mucosa	stomach
21	chr14:68429200-68432400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:68429200-68433800	Weak transcription	Primary T cells from cord blood	blood
23	chr14:68429400-68430000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:68429400-68430400	Weak transcription	Adipose Nuclei	Adipose
25	chr14:68429400-68430400	Weak transcription	Fetal Lung	lung
26	chr14:68429400-68430400	Weak transcription	A549	lung
27	chr14:68429400-68430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:68429400-68433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:68429400-68445200	Weak transcription	Ovary	ovary
30	chr14:68429600-68430000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:68429600-68430000	Enhancers	GM12878-XiMat	blood
32	chr14:68429600-68430600	Weak transcription	Liver	Liver
33	chr14:68429600-68431200	Weak transcription	Primary B cells from cord blood	blood
34	chr14:68429600-68432400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:68429600-68444400	Weak transcription	Primary hematopoietic stem cells	blood

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