Variant report

Variant	rs411520
Chromosome Location	chr5:80999234-80999235
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	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
3	chr5:80998159..81001011-chr5:81003180..81006000,3	K562	blood:
4	chr5:80997712..81001011-chr5:81003942..81006000,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1023747	0.89[EUR][1000 genomes]
rs1095605	0.84[EUR][1000 genomes]
rs11957810	0.86[EUR][1000 genomes]
rs12186581	0.82[ASN][1000 genomes]
rs13156146	0.86[ASN][1000 genomes]
rs13160079	0.86[ASN][1000 genomes]
rs1347597	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1436498	0.86[EUR][1000 genomes]
rs34007998	0.86[ASN][1000 genomes]
rs365147	0.89[EUR][1000 genomes]
rs365241	0.98[ASN][1000 genomes]
rs371705	0.86[ASN][1000 genomes]
rs374479	0.98[ASN][1000 genomes]
rs380946	0.87[EUR][1000 genomes]
rs382523	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs384433	0.89[EUR][1000 genomes]
rs385332	0.89[EUR][1000 genomes]
rs385716	0.89[EUR][1000 genomes]
rs389860	0.98[ASN][1000 genomes]
rs398666	0.86[ASN][1000 genomes]
rs399104	0.80[EUR][1000 genomes]
rs402061	0.86[ASN][1000 genomes]
rs402352	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402433	0.81[ASN][1000 genomes]
rs403777	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs403795	0.98[ASN][1000 genomes]
rs406283	0.86[ASN][1000 genomes]
rs406292	0.89[EUR][1000 genomes]
rs411990	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs418033	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419017	0.87[EUR][1000 genomes]
rs419435	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs420202	0.98[ASN][1000 genomes]
rs420412	0.98[ASN][1000 genomes]
rs421348	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422523	0.86[ASN][1000 genomes]
rs424762	0.86[ASN][1000 genomes]
rs424844	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs425897	0.98[ASN][1000 genomes]
rs432617	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435901	0.89[EUR][1000 genomes]
rs437417	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438128	0.87[EUR][1000 genomes]
rs445253	0.89[EUR][1000 genomes]
rs446064	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446565	0.80[EUR][1000 genomes]
rs452314	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453068	0.89[EUR][1000 genomes]
rs454487	0.87[EUR][1000 genomes]
rs585558	0.89[EUR][1000 genomes]
rs586695	0.86[ASN][1000 genomes]
rs682481	0.89[EUR][1000 genomes]
rs827065	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863772	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80995000-81005800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
7	chr5:80996400-80999800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:80996400-81000800	Weak transcription	Aorta	Aorta
9	chr5:80996600-81003000	Weak transcription	K562	blood
10	chr5:80996600-81007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:80996800-80999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:80996800-81001800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:80996800-81005000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
16	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
18	chr5:80997000-81004800	Weak transcription	Fetal Brain Female	brain
19	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:80997200-80999800	Weak transcription	Thymus	Thymus
21	chr5:80997200-81001600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:80997200-81005600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
24	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:80997400-81008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:80997600-80999600	Weak transcription	Fetal Thymus	thymus
27	chr5:80997600-81003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:80997600-81004800	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:80997800-81007400	Weak transcription	Primary T cells from cord blood	blood
30	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:80998200-80999800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:80998200-81003200	Weak transcription	HSMM	muscle
33	chr5:80998800-80999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:80998800-80999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:80998800-81005000	Strong transcription	Dnd41	blood
36	chr5:80999000-81000200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:80999200-80999400	Enhancers	Ovary	ovary

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