Variant report

Variant	rs8006893
Chromosome Location	chr14:39886707-39886708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10143351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12883652	0.85[AFR][1000 genomes]
rs12893829	0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs1955703	0.85[ASN][1000 genomes]
rs2038278	0.83[AFR][1000 genomes]
rs2415543	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2415545	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902558	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap]
rs4902560	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap]
rs6571923	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6571932	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142748	0.86[ASN][1000 genomes]
rs7148377	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs7160664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718364	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs8011173	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012768	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8019328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
2	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
4	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
6	chr14:39881200-39886800	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr14:39881200-39887200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:39881600-39887200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr14:39882200-39895400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:39885000-39886800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:39885000-39887800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr14:39885200-39886800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr14:39885200-39886800	ZNF genes & repeats	HepG2	liver
14	chr14:39885200-39891400	Weak transcription	Gastric	stomach
15	chr14:39885600-39886800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr14:39885600-39886800	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr14:39885600-39886800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr14:39885800-39886800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
19	chr14:39885800-39886800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr14:39885800-39886800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr14:39885800-39887200	ZNF genes & repeats	GM12878-XiMat	blood
22	chr14:39886000-39886800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr14:39886000-39886800	ZNF genes & repeats	Thymus	Thymus
24	chr14:39886000-39887000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:39886000-39887000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:39886000-39890800	Weak transcription	Fetal Brain Male	brain
27	chr14:39886000-39895600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:39886200-39886800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:39886200-39886800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr14:39886200-39887600	ZNF genes & repeats	Fetal Stomach	stomach
31	chr14:39886200-39890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:39886200-39895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:39886400-39886800	ZNF genes & repeats	Fetal Thymus	thymus
34	chr14:39886400-39887200	ZNF genes & repeats	Dnd41	blood
35	chr14:39886400-39888200	Weak transcription	Fetal Heart	heart
36	chr14:39886400-39888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:39886400-39888600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:39886400-39888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:39886400-39892600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:39886400-39895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:39886600-39888400	Weak transcription	Liver	Liver
42	chr14:39886600-39888800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:39886600-39889000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:39886600-39889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:39886600-39889600	Weak transcription	Left Ventricle	heart
46	chr14:39886600-39890200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:39886600-39890200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:39886600-39890200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:39886600-39890800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:39886600-39890800	Weak transcription	Brain Angular Gyrus	brain

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