Variant report

Variant	rs2295532
Chromosome Location	chr14:31570401-31570402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10130804	1.00[CHB][hapmap]
rs12588474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590867	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
9	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr14:31534600-31572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:31548800-31571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:31561400-31571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:31561800-31572400	Weak transcription	Psoas Muscle	Psoas
5	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
8	chr14:31565600-31571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31565600-31576200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
11	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:31565600-31598000	Strong transcription	Liver	Liver
13	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:31565800-31576000	Strong transcription	Osteobl	bone
15	chr14:31565800-31578800	Strong transcription	HUVEC	blood vessel
16	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:31566000-31572000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:31566000-31572600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:31566000-31574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:31566000-31575800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:31566000-31586600	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:31566200-31570600	Strong transcription	Lung	lung
27	chr14:31566200-31572000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:31566200-31576200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:31566200-31578800	Strong transcription	Fetal Thymus	thymus
30	chr14:31566200-31579000	Strong transcription	Brain Cingulate Gyrus	brain
31	chr14:31566200-31586600	Strong transcription	Primary T cells from cord blood	blood
32	chr14:31566200-31590600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:31566200-31591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
39	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:31566400-31586600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:31566600-31570600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:31566600-31570600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr14:31566600-31572400	Strong transcription	Fetal Intestine Large	intestine
48	chr14:31566600-31574200	Strong transcription	Fetal Brain Female	brain
49	chr14:31566600-31579800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:31566600-31591000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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