Variant report

Variant	rs2099109
Chromosome Location	chr14:81684119-81684120
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:
2	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
3	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
4	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
5	chr14:81683547..81687186-chr14:81935321..81938414,4	K562	blood:
6	chr14:81665997..81674006-chr14:81683759..81689461,17	MCF-7	breast:
7	chr14:81651257..81653411-chr14:81683481..81686410,2	MCF-7	breast:
8	chr14:81434370..81436740-chr14:81683438..81686246,2	MCF-7	breast:
9	chr14:81683880..81685720-chr14:81936272..81938453,2	MCF-7	breast:
10	chr14:81683324..81685259-chr17:42294964..42296465,2	K562	blood:
11	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
12	chr14:81634129..81641173-chr14:81683190..81688873,17	MCF-7	breast:
13	chr14:81420309..81422917-chr14:81682384..81684780,2	MCF-7	breast:
14	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258999	Chromatin interaction
ENSG00000221303	Chromatin interaction
ENSG00000140022	Chromatin interaction
ENSG00000108312	Chromatin interaction
ENSG00000165409	Chromatin interaction
ENSG00000205579	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17111574	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111613	0.82[EUR][1000 genomes]
rs17111624	0.82[EUR][1000 genomes]
rs17111629	0.82[EUR][1000 genomes]
rs55905846	0.82[EUR][1000 genomes]
rs57391376	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57436191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58773120	0.82[EUR][1000 genomes]
rs59263263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59453808	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61099429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61126178	0.82[EUR][1000 genomes]
rs61610956	0.84[EUR][1000 genomes]
rs61978863	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61978868	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61978869	0.84[EUR][1000 genomes]
rs61978871	0.81[EUR][1000 genomes]
rs61978875	0.82[EUR][1000 genomes]
rs61980891	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980893	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980897	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980898	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67933866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148747	0.82[EUR][1000 genomes]
rs7149917	0.82[EUR][1000 genomes]
rs7153668	0.82[EUR][1000 genomes]
rs7160870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691643	1.00[ASN][1000 genomes]
rs8006015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007436	0.81[EUR][1000 genomes]
rs8012466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
2	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
6	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
9	chr14:81669600-81684600	Weak transcription	HSMMtube	muscle
10	chr14:81670600-81685200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:81672800-81684600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:81674000-81685000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:81674000-81685400	Weak transcription	Colonic Mucosa	Colon
14	chr14:81675200-81685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:81675200-81685400	Weak transcription	Pancreas	Pancrea
16	chr14:81675200-81685600	Weak transcription	Gastric	stomach
17	chr14:81675400-81685400	Weak transcription	Esophagus	oesophagus
18	chr14:81675600-81684600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:81676400-81684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:81676600-81684400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:81677800-81685400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:81678000-81684400	Weak transcription	NHEK	skin
23	chr14:81678000-81685000	Weak transcription	Fetal Kidney	kidney
24	chr14:81678000-81685400	Weak transcription	Psoas Muscle	Psoas
25	chr14:81678800-81684600	Weak transcription	Fetal Heart	heart
26	chr14:81680800-81685000	Weak transcription	Fetal Stomach	stomach
27	chr14:81681200-81685000	Weak transcription	Right Atrium	heart
28	chr14:81682000-81684600	Weak transcription	HMEC	breast
29	chr14:81682400-81684400	Weak transcription	Fetal Intestine Large	intestine
30	chr14:81682400-81684400	Weak transcription	Fetal Lung	lung
31	chr14:81682400-81684600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:81682400-81685200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:81682400-81685200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:81682400-81685400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:81682400-81685400	Weak transcription	Ovary	ovary
36	chr14:81682400-81685800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:81682600-81684200	Weak transcription	A549	lung
38	chr14:81682600-81684400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:81682600-81684600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:81682600-81684600	Weak transcription	NHDF-Ad	bronchial
41	chr14:81682600-81684800	Weak transcription	Osteobl	bone
42	chr14:81682600-81685400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:81682800-81685000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:81682800-81685000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:81682800-81685000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:81682800-81685200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:81682800-81685200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:81682800-81685400	Weak transcription	Placenta	Placenta
49	chr14:81683000-81684600	Weak transcription	NH-A	brain
50	chr14:81683000-81685000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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