Variant report

Variant	rs72773085
Chromosome Location	chr5:80997015-80997016
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80996121..80997838-chr5:81001876..81003774,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11740343	1.00[ASN][1000 genomes]
rs13360497	1.00[ASN][1000 genomes]
rs17233376	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773081	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709153	1.00[ASN][1000 genomes]
rs7723889	1.00[ASN][1000 genomes]
rs7728918	1.00[ASN][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:38 , 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	chr5:80990800-80999200	Weak transcription	Ovary	ovary
6	chr5:80994800-80997200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:80994800-80997600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:80995000-80997200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:80995000-80997400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:80995000-80997800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr5:80995000-81005800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:80995200-80998200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr5:80995400-80997200	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr5:80995400-80997200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:80995400-80997200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr5:80995600-80997600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr5:80995600-80997600	Strong transcription	Fetal Thymus	thymus
18	chr5:80995800-80997800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr5:80996000-80997600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:80996000-80998800	ZNF genes & repeats	Dnd41	blood
21	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
22	chr5:80996400-80999800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:80996400-81000800	Weak transcription	Aorta	Aorta
24	chr5:80996600-80997200	Strong transcription	Thymus	Thymus
25	chr5:80996600-80997400	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:80996600-81003000	Weak transcription	K562	blood
27	chr5:80996600-81007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:80996800-80997200	Weak transcription	Fetal Heart	heart
30	chr5:80996800-80999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:80996800-81001800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:80996800-81005000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
34	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
36	chr5:80997000-80997400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:80997000-81004800	Weak transcription	Fetal Brain Female	brain
38	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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