Variant report

Variant	rs8006594
Chromosome Location	chr14:31169731-31169732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	1.00[AMR][1000 genomes]
rs10135741	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141104	1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	1.00[AMR][1000 genomes]
rs10142125	1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	1.00[AMR][1000 genomes]
rs10152074	1.00[AMR][1000 genomes]
rs10220596	1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	1.00[AMR][1000 genomes]
rs28495989	1.00[AMR][1000 genomes]
rs28542156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649328	1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	1.00[AMR][1000 genomes]
rs28860821	1.00[AMR][1000 genomes]
rs2889991	1.00[AMR][1000 genomes]
rs56250330	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041117	1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8010048	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8012029	1.00[AMR][1000 genomes]
rs8014497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019014	0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[AMR][1000 genomes]
rs9944142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	22 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
8	chr14:31153600-31174400	Weak transcription	NHDF-Ad	bronchial
9	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
11	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
13	chr14:31160200-31172800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:31160200-31176000	Strong transcription	HSMM	muscle
15	chr14:31160200-31178800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
21	chr14:31161000-31178600	Weak transcription	Stomach Mucosa	stomach
22	chr14:31161000-31180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:31162000-31181000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:31162200-31192000	Weak transcription	A549	lung
30	chr14:31162200-31199200	Strong transcription	HepG2	liver
31	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:31162600-31194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:31162800-31183200	Weak transcription	Fetal Heart	heart
34	chr14:31163400-31179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:31163600-31170400	Strong transcription	Liver	Liver
36	chr14:31163600-31171400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:31163600-31171600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:31163600-31172000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr14:31163600-31179400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:31163600-31180000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:31163800-31169800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31163800-31171600	Strong transcription	Osteobl	bone
43	chr14:31163800-31171800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr14:31163800-31172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:31163800-31172400	Strong transcription	Adipose Nuclei	Adipose
46	chr14:31163800-31172600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:31164000-31171800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:31164000-31172000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:31164000-31172800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:31164000-31172800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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