Variant report

Variant	rs10143083
Chromosome Location	chr14:35783038-35783039
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35779341..35784196-chr14:35869353..35875195,7	K562	blood:
2	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
3	chr14:35782340..35785234-chr14:35821689..35824167,2	K562	blood:
4	chr14:35777000..35779255-chr14:35781790..35784953,3	K562	blood:
5	chr14:35779341..35783565-chr14:35868727..35873122,4	K562	blood:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10130007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10134499	0.84[EUR][1000 genomes]
rs10134666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10137095	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10137440	0.92[AFR][1000 genomes]
rs10137488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10140636	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10140985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147734	0.89[EUR][1000 genomes]
rs10148143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10148234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10148868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148872	0.85[AMR][1000 genomes]
rs10149412	1.00[AMR][1000 genomes]
rs10467707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10467708	0.84[AFR][1000 genomes]
rs10715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11156879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11156880	0.89[EUR][1000 genomes]
rs11547365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11851831	0.85[AMR][1000 genomes]
rs12323542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17597267	0.84[AFR][1000 genomes]
rs17597281	0.84[AFR][1000 genomes]
rs2415281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28460322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28461608	0.88[AFR][1000 genomes]
rs28522717	0.88[AFR][1000 genomes]
rs28625199	1.00[AMR][1000 genomes]
rs55747728	0.85[AMR][1000 genomes]
rs57606486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58058174	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58177251	0.85[AMR][1000 genomes]
rs59708026	0.85[AMR][1000 genomes]
rs59954445	0.85[AMR][1000 genomes]
rs60206834	0.85[AMR][1000 genomes]
rs7140912	0.88[AFR][1000 genomes]
rs7141690	0.85[AMR][1000 genomes]
rs7145488	0.85[AMR][1000 genomes]
rs7154775	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158019	0.84[AFR][1000 genomes]
rs7158592	0.85[AMR][1000 genomes]
rs8004205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017330	0.88[AFR][1000 genomes]
rs8018707	0.89[EUR][1000 genomes]
rs9322944	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9322945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9322946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35771600-35786800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:35772400-35788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
8	chr14:35772600-35789000	Strong transcription	HepG2	liver
9	chr14:35772800-35788200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:35773400-35789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
12	chr14:35774600-35784200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:35774600-35789400	Strong transcription	Dnd41	blood
14	chr14:35775000-35789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:35775200-35783800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:35775800-35785400	Strong transcription	A549	lung
18	chr14:35775800-35789200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:35776400-35789000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:35776400-35789000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:35776600-35784200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:35776600-35788800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr14:35776600-35789000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:35776800-35784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:35776800-35784600	Weak transcription	Pancreas	Pancrea
26	chr14:35776800-35788400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:35776800-35788600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:35776800-35789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:35777000-35788200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:35777000-35788200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:35777000-35788200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:35777000-35788200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:35777000-35789000	Strong transcription	Liver	Liver
34	chr14:35777000-35789400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:35777200-35784600	Strong transcription	HUVEC	blood vessel
36	chr14:35777200-35784800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:35777200-35784800	Strong transcription	Placenta	Placenta
38	chr14:35777200-35788200	Strong transcription	Osteobl	bone
39	chr14:35777200-35788400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:35777200-35788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:35777200-35788800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:35777200-35788800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:35777200-35789000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:35777400-35788400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:35777400-35788400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:35777400-35789000	Strong transcription	Adipose Nuclei	Adipose
47	chr14:35777400-35789200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:35777600-35788200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:35777600-35788400	Strong transcription	GM12878-XiMat	blood
50	chr14:35777600-35789000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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