Variant report

Variant	rs28659887
Chromosome Location	chr14:71414510-71414511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10132278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132657	0.91[AFR][1000 genomes]
rs10133398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135131	0.91[AFR][1000 genomes]
rs10135836	0.91[AFR][1000 genomes]
rs10136593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137584	0.91[AFR][1000 genomes]
rs10138314	1.00[AFR][1000 genomes]
rs10139870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144763	0.87[AFR][1000 genomes]
rs10145450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147840	0.91[AFR][1000 genomes]
rs10147846	0.91[AFR][1000 genomes]
rs10148594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149857	1.00[AMR][1000 genomes]
rs10150003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150628	0.87[AFR][1000 genomes]
rs10438024	0.83[AFR][1000 genomes]
rs12385922	0.87[AFR][1000 genomes]
rs28401611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28453676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28552942	0.83[AFR][1000 genomes]
rs28556569	0.91[AFR][1000 genomes]
rs28771184	0.91[AFR][1000 genomes]
rs28793135	0.91[AFR][1000 genomes]
rs28800773	0.83[AFR][1000 genomes]
rs28807752	0.91[AFR][1000 genomes]
rs28824190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28842770	0.91[AFR][1000 genomes]
rs28896292	0.83[AFR][1000 genomes]
rs45536336	1.00[AMR][1000 genomes]
rs59943463	1.00[AMR][1000 genomes]
rs61425260	1.00[AMR][1000 genomes]
rs74065439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3434532	chr14:71414399-71417147	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71401000-71443800	Weak transcription	Right Ventricle	heart
2	chr14:71402200-71442800	Weak transcription	HSMMtube	muscle
3	chr14:71408400-71415200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:71408400-71416800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr14:71408600-71414800	ZNF genes & repeats	Dnd41	blood
6	chr14:71408600-71415000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:71408600-71417000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:71409000-71415000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr14:71409200-71415000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr14:71409200-71415200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr14:71409200-71416600	ZNF genes & repeats	GM12878-XiMat	blood
12	chr14:71409200-71417200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr14:71410400-71415200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:71410800-71414600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:71411000-71414600	Weak transcription	Pancreas	Pancrea
16	chr14:71411000-71415800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:71411000-71416200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:71411000-71416400	Weak transcription	Colonic Mucosa	Colon
19	chr14:71411000-71443200	Weak transcription	Hela-S3	cervix
20	chr14:71411000-71443600	Weak transcription	NHLF	lung
21	chr14:71411000-71443800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:71411000-71443800	Weak transcription	Gastric	stomach
23	chr14:71411200-71414600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:71411200-71428400	Weak transcription	NH-A	brain
25	chr14:71411400-71415200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr14:71411400-71419400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:71411400-71429200	Weak transcription	HUVEC	blood vessel
28	chr14:71411400-71444000	Weak transcription	Brain Angular Gyrus	brain
29	chr14:71411600-71414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:71411800-71414600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:71411800-71444200	Weak transcription	Fetal Brain Male	brain
32	chr14:71412400-71419600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:71412600-71415000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr14:71412800-71416800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:71412800-71420000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:71413000-71415000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:71413000-71418000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:71413400-71415000	ZNF genes & repeats	Fetal Lung	lung
39	chr14:71413400-71415200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr14:71413400-71415200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:71413400-71415400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr14:71413400-71415600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr14:71413400-71416600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr14:71413600-71414600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:71413600-71414600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:71413600-71414600	Weak transcription	Small Intestine	intestine
47	chr14:71413600-71414800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:71413600-71414800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr14:71413600-71414800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:71413600-71414800	Strong transcription	Placenta Amnion	Placenta Amnion

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