Variant report

Variant	rs8016601
Chromosome Location	chr14:81362703-81362704
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10136404	0.82[CEU][hapmap]
rs10141970	0.80[CEU][hapmap]
rs10142753	0.80[CEU][hapmap]
rs1016507	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1025253	0.95[CEU][hapmap]
rs12431821	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs12437260	0.80[CEU][hapmap]
rs12880014	1.00[YRI][hapmap]
rs12888082	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12891585	1.00[YRI][hapmap]
rs12892825	0.82[CEU][hapmap]
rs1458993	1.00[CEU][hapmap]
rs1597320	1.00[YRI][hapmap]
rs17542615	1.00[CEU][hapmap]
rs17614081	1.00[CEU][hapmap]
rs17615020	0.80[CEU][hapmap]
rs1863766	0.83[CEU][hapmap]
rs2010847	0.80[CEU][hapmap]
rs2114703	0.83[CEU][hapmap]
rs2215981	0.83[CEU][hapmap]
rs2217176	0.95[CEU][hapmap]
rs2246617	1.00[YRI][hapmap]
rs228120	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs228122	0.80[CEU][hapmap]
rs228125	1.00[CEU][hapmap]
rs2288347	0.83[CEU][hapmap]
rs2371413	1.00[YRI][hapmap]
rs2371416	1.00[CEU][hapmap]
rs2371457	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs2371462	0.86[CEU][hapmap]
rs2556611	0.83[CEU][hapmap]
rs2590480	1.00[YRI][hapmap]
rs2888032	0.83[CEU][hapmap]
rs2888046	0.81[CEU][hapmap]
rs3742721	0.82[CEU][hapmap]
rs3742722	0.82[CEU][hapmap]
rs4523859	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4903948	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs6574605	1.00[YRI][hapmap]
rs6574608	0.83[CEU][hapmap]
rs6574610	0.80[CEU][hapmap]
rs6574613	0.86[CEU][hapmap]
rs7148368	1.00[CEU][hapmap]
rs7148618	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7150858	0.91[CEU][hapmap]
rs7153979	1.00[CEU][hapmap]
rs7154132	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs759916	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs8005809	1.00[YRI][hapmap]
rs8006864	1.00[YRI][hapmap]
rs8009120	0.87[CEU][hapmap]
rs8021137	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs8022411	0.96[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
3	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:81351800-81372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81352200-81372800	Weak transcription	Thymus	Thymus
11	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
12	chr14:81356200-81371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:81358800-81369600	Weak transcription	Primary B cells from cord blood	blood
19	chr14:81358800-81379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:81359000-81372800	Weak transcription	NHDF-Ad	bronchial
21	chr14:81359200-81380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:81359400-81363800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:81359400-81368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:81359400-81379800	Weak transcription	Adipose Nuclei	Adipose
26	chr14:81359400-81380000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:81359400-81380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:81359400-81406000	Weak transcription	A549	lung
29	chr14:81359600-81365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:81359800-81371000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:81359800-81372200	Weak transcription	HSMM	muscle
33	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:81360000-81383400	Strong transcription	Dnd41	blood
36	chr14:81360200-81393800	Weak transcription	HMEC	breast
37	chr14:81360800-81371800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:81361200-81365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81361200-81366600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:81361800-81368600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81362000-81369800	Strong transcription	Fetal Thymus	thymus
42	chr14:81362000-81384600	Weak transcription	HUVEC	blood vessel
43	chr14:81362200-81392600	Weak transcription	NH-A	brain
44	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:81362600-81366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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