Variant report

Variant	rs28513185
Chromosome Location	chr14:45577008-45577009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45576795-45577281	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:45576872-45577187	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:45576946-45577208	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:45576798-45577200	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:45576938-45577207	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45553440..45555348-chr14:45576800..45578768,2	MCF-7	breast:
2	chr14:45572072..45577375-chr14:45579640..45584975,5	MCF-7	breast:

Variant related genes	Relation type
SNORD127	TF binding region
PRPF39	TF binding region
ENSG00000239043	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10129201	1.00[AMR][1000 genomes]
rs10130162	0.81[AFR][1000 genomes]
rs10131349	0.81[AFR][1000 genomes]
rs10131585	0.82[AFR][1000 genomes]
rs10131595	1.00[AMR][1000 genomes]
rs10131972	0.82[AFR][1000 genomes]
rs10132260	0.81[AFR][1000 genomes]
rs10132401	0.82[AFR][1000 genomes]
rs10132454	0.81[AFR][1000 genomes]
rs10132637	0.83[AFR][1000 genomes]
rs10133723	0.81[AFR][1000 genomes]
rs10134385	1.00[AMR][1000 genomes]
rs10135422	0.84[AFR][1000 genomes]
rs10135494	1.00[AMR][1000 genomes]
rs10139121	0.81[AFR][1000 genomes]
rs10139464	0.81[AFR][1000 genomes]
rs10140308	0.81[AFR][1000 genomes]
rs10140534	0.81[AFR][1000 genomes]
rs10140661	0.82[AFR][1000 genomes]
rs10144179	0.84[AFR][1000 genomes]
rs10145279	0.81[AFR][1000 genomes]
rs10145979	0.82[AFR][1000 genomes]
rs10146384	0.81[AFR][1000 genomes]
rs10146650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146930	0.84[AFR][1000 genomes]
rs10147547	1.00[AMR][1000 genomes]
rs10149748	1.00[AMR][1000 genomes]
rs10150272	0.82[AFR][1000 genomes]
rs11157429	0.81[AFR][1000 genomes]
rs12100992	0.83[AFR][1000 genomes]
rs12101074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092470	0.82[AFR][1000 genomes]
rs17092482	0.82[AFR][1000 genomes]
rs17115714	1.00[AMR][1000 genomes]
rs17115737	0.81[AFR][1000 genomes]
rs17115745	0.82[AFR][1000 genomes]
rs17115814	1.00[AMR][1000 genomes]
rs28403384	0.81[AFR][1000 genomes]
rs28406098	0.95[AFR][1000 genomes]
rs28469277	0.82[AFR][1000 genomes]
rs28520409	0.81[AFR][1000 genomes]
rs28536084	0.82[AFR][1000 genomes]
rs28682279	0.82[AFR][1000 genomes]
rs28685885	0.81[AFR][1000 genomes]
rs28688045	0.82[AFR][1000 genomes]
rs4497593	0.81[AFR][1000 genomes]
rs57818319	0.81[AFR][1000 genomes]
rs59432531	0.81[AFR][1000 genomes]
rs73340651	0.88[AFR][1000 genomes]
rs8003388	0.81[AFR][1000 genomes]
rs8022599	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554000-45585400	Weak transcription	Gastric	stomach
2	chr14:45554400-45578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
4	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:45555200-45579000	Weak transcription	Stomach Mucosa	stomach
7	chr14:45556400-45582000	Weak transcription	Fetal Brain Male	brain
8	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
10	chr14:45560200-45582000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:45563400-45579200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:45563600-45578400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:45563600-45579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:45563600-45580400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr14:45563600-45599600	Strong transcription	Dnd41	blood
19	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
23	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:45564200-45581200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:45564200-45582200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:45564200-45589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:45564400-45579200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:45564400-45581000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:45564400-45582000	Strong transcription	Osteobl	bone
37	chr14:45564400-45582400	Strong transcription	Liver	Liver
38	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
39	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:45565000-45580400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:45566000-45577800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:45566000-45579000	Weak transcription	Spleen	Spleen
48	chr14:45566000-45579200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:45566000-45586200	Weak transcription	Pancreas	Pancrea
50	chr14:45566200-45577800	Weak transcription	Brain Angular Gyrus	brain

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