Variant report

Variant	rs8010968
Chromosome Location	chr14:81361731-81361732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10129361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129919	0.81[YRI][hapmap]
rs10130150	1.00[MEX][hapmap]
rs10130315	0.91[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs10130613	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130908	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10132917	0.92[YRI][hapmap]
rs10133039	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133081	0.95[YRI][hapmap]
rs10133213	0.90[ASW][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134049	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134286	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10137290	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10137669	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10139039	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139626	0.89[AFR][1000 genomes]
rs10139628	0.91[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs10141192	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142758	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143757	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145860	0.92[YRI][hapmap]
rs10146123	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148517	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149425	1.00[MEX][hapmap]
rs10149433	0.96[YRI][hapmap]
rs10150391	0.83[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs10151410	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151557	0.90[AFR][1000 genomes]
rs10438029	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844724	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11844869	0.89[AFR][1000 genomes]
rs11845100	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs11845556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11845772	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849246	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849362	0.87[AFR][1000 genomes]
rs11850467	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851465	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851697	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12587252	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17111059	0.96[YRI][hapmap]
rs17111220	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111229	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863767	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2060594	0.95[YRI][hapmap]
rs2060595	0.91[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs2195102	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445165	0.87[AFR][1000 genomes]
rs28510159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28576038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631251	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28638187	0.87[AFR][1000 genomes]
rs28771783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28811052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28856091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34336276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34529456	1.00[AMR][1000 genomes]
rs34929621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806640	0.91[AFR][1000 genomes]
rs55908787	0.91[AFR][1000 genomes]
rs55956216	0.81[AMR][1000 genomes]
rs56835406	0.91[AFR][1000 genomes]
rs60459982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60831956	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142436	0.91[AFR][1000 genomes]
rs7146496	1.00[ASW][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7152740	0.91[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7152900	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153324	0.91[ASW][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153585	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154345	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7159966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064586	0.91[AFR][1000 genomes]
rs74064589	0.91[AFR][1000 genomes]
rs74064591	0.87[AFR][1000 genomes]
rs74064754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015542	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019256	0.90[LWK][hapmap];0.96[YRI][hapmap]
rs9323695	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:43 , 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	chr14:81358800-81362600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:81358800-81369600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:81358800-81379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:81359000-81372800	Weak transcription	NHDF-Ad	bronchial
22	chr14:81359200-81380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:81359400-81363800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:81359400-81368800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:81359400-81379800	Weak transcription	Adipose Nuclei	Adipose
27	chr14:81359400-81380000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:81359400-81380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:81359400-81406000	Weak transcription	A549	lung
30	chr14:81359600-81361800	Weak transcription	Fetal Lung	lung
31	chr14:81359600-81365400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:81359800-81371000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:81359800-81372200	Weak transcription	HSMM	muscle
35	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:81360000-81383400	Strong transcription	Dnd41	blood
38	chr14:81360200-81393800	Weak transcription	HMEC	breast
39	chr14:81360800-81371800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:81361200-81362000	Weak transcription	Fetal Thymus	thymus
41	chr14:81361200-81365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:81361200-81366600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:81361400-81361800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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