Variant report

Variant	rs446064
Chromosome Location	chr5:80992495-80992496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
2	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
3	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
4	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1023747	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[GIH][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes]
rs1095605	0.85[EUR][1000 genomes]
rs11957810	0.85[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];0.82[TSI][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes]
rs12186581	0.82[ASN][1000 genomes]
rs13156146	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13160079	0.86[ASN][1000 genomes]
rs1347597	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436498	0.87[EUR][1000 genomes]
rs2043646	0.96[CEU][hapmap]
rs2917542	0.87[MKK][hapmap];0.81[YRI][hapmap]
rs34007998	0.86[ASN][1000 genomes]
rs365147	0.89[EUR][1000 genomes]
rs365241	0.98[ASN][1000 genomes]
rs371705	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs374479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs380946	0.89[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs382523	0.95[ASN][1000 genomes]
rs384433	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs385332	0.90[EUR][1000 genomes]
rs385716	1.00[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs389860	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs390171	1.00[CEU][hapmap]
rs396231	0.85[CHB][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap]
rs398666	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs399104	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs402061	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs402352	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402433	0.81[ASN][1000 genomes]
rs403777	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs403795	0.98[ASN][1000 genomes]
rs406283	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs406292	0.96[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs411520	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411990	0.98[ASN][1000 genomes]
rs413472	0.87[MKK][hapmap];0.86[YRI][hapmap]
rs418033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419017	0.96[CEU][hapmap];0.86[GIH][hapmap];0.96[MKK][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs419435	1.00[ASN][1000 genomes]
rs420202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs420412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs421348	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422523	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs424762	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs424844	1.00[ASN][1000 genomes]
rs425897	0.98[ASN][1000 genomes]
rs432617	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435901	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs437417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438128	0.88[EUR][1000 genomes]
rs445253	0.90[EUR][1000 genomes]
rs446565	0.81[EUR][1000 genomes]
rs447574	0.81[CEU][hapmap]
rs452314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453068	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs454487	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs585558	0.96[CEU][hapmap];0.86[GIH][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs586695	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs682481	0.90[EUR][1000 genomes]
rs6898782	0.85[CHB][hapmap]
rs827065	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863772	1.00[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
2	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
5	chr5:80984000-80996000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80984000-81011600	Weak transcription	Lung	lung
7	chr5:80984200-80995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:80984200-80996000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
10	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:80984600-80992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:80984600-80995800	Weak transcription	Aorta	Aorta
13	chr5:80985600-80996200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:80988600-80995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:80988600-80995400	Weak transcription	Primary B cells from cord blood	blood
16	chr5:80988600-80995800	Weak transcription	Primary T cells from cord blood	blood
17	chr5:80988600-80995800	Weak transcription	Fetal Lung	lung
18	chr5:80989200-80995000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:80989200-80995400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:80989200-80995600	Weak transcription	Fetal Stomach	stomach
21	chr5:80990200-80992600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:80990600-80995800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:80990800-80999200	Weak transcription	Ovary	ovary
24	chr5:80991000-80993000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:80991000-80995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:80991200-80992600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:80991600-80996000	Strong transcription	Dnd41	blood
28	chr5:80991800-80992600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr5:80991800-80992800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:80992000-80992800	Enhancers	Fetal Brain Female	brain
31	chr5:80992000-80992800	Enhancers	Psoas Muscle	Psoas
32	chr5:80992000-80992800	Enhancers	Right Ventricle	heart
33	chr5:80992000-80993200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:80992000-80993200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:80992000-80993400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:80992200-80992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:80992200-80992600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:80992200-80992600	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:80992200-80992800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:80992200-80992800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:80992200-80992800	Enhancers	Brain Substantia Nigra	brain
42	chr5:80992200-80992800	Genic enhancers	Fetal Thymus	thymus
43	chr5:80992200-80993200	Enhancers	Thymus	Thymus
44	chr5:80992400-80992600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:80992400-80995400	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:80992400-80996000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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