Variant report

Variant	rs56653428
Chromosome Location	chr5:81034690-81034691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81034005..81036819-chr5:81039221..81041707,3	K562	blood:
2	chr5:81018633..81021063-chr5:81032875..81035374,3	K562	blood:
3	chr5:81033193..81036120-chr5:81145161..81147369,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16899102	0.81[AMR][1000 genomes]
rs58821505	0.86[AMR][1000 genomes]
rs60160270	0.86[AMR][1000 genomes]
rs6866695	0.86[AMR][1000 genomes]
rs9688025	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
3	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:81022800-81036400	Weak transcription	Fetal Thymus	thymus
6	chr5:81024000-81036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:81028800-81035600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:81029400-81038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:81029800-81040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:81030200-81043000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:81030400-81035200	Weak transcription	Fetal Heart	heart
13	chr5:81030400-81039600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:81031800-81040400	Weak transcription	Fetal Brain Female	brain
15	chr5:81031800-81043000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:81032000-81038200	Weak transcription	K562	blood
17	chr5:81032000-81045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:81032200-81035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:81032200-81035800	Weak transcription	Fetal Brain Male	brain
20	chr5:81032200-81036600	Weak transcription	Small Intestine	intestine
21	chr5:81032200-81043600	Weak transcription	Fetal Lung	lung
22	chr5:81032200-81044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:81032200-81045000	Weak transcription	Ovary	ovary
24	chr5:81032200-81045000	Weak transcription	Psoas Muscle	Psoas
25	chr5:81032200-81045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:81032200-81045200	Weak transcription	Esophagus	oesophagus
27	chr5:81032200-81045200	Weak transcription	Pancreas	Pancrea
28	chr5:81032600-81044800	Weak transcription	HSMM	muscle
29	chr5:81033000-81035200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:81033600-81035200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:81033600-81035400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:81033800-81035000	Enhancers	Thymus	Thymus
33	chr5:81033800-81035400	ZNF genes & repeats	GM12878-XiMat	blood
34	chr5:81033800-81042000	Genic enhancers	Dnd41	blood
35	chr5:81034000-81042200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:81034600-81034800	Enhancers	Left Ventricle	heart
37	chr5:81034600-81035400	Enhancers	Spleen	Spleen
38	chr5:81034600-81041800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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