Variant report

Variant	rs56841226
Chromosome Location	chr10:50343603-50343604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr10:50343583-50344907	U2OS	brain:	n/a	n/a
2	EBF1	chr10:50343572-50343656	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:
2	chr10:50343053..50345152-chr10:50372726..50375346,2	K562	blood:

Variant related genes	Relation type
FAM170B	TF binding region
FAM170B-AS1	TF binding region
ENSG00000165633	Chromatin interaction
ENSG00000204161	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56853617	1.00[AFR][1000 genomes]
rs58710721	1.00[AFR][1000 genomes]
rs73298920	1.00[AFR][1000 genomes]
rs73298957	1.00[AFR][1000 genomes]
rs73298985	1.00[AFR][1000 genomes]
rs73298996	1.00[AFR][1000 genomes]
rs73304725	1.00[AFR][1000 genomes]
rs73304783	1.00[AFR][1000 genomes]
rs73306737	1.00[AFR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
2	chr10:50340400-50343800	Weak transcription	K562	blood
3	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:50341800-50344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:50341800-50344200	Enhancers	Fetal Stomach	stomach
6	chr10:50341800-50344200	Enhancers	Fetal Thymus	thymus
7	chr10:50342000-50344000	Enhancers	Right Ventricle	heart
8	chr10:50342200-50344600	Enhancers	Primary B cells from cord blood	blood
9	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
10	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
12	chr10:50342400-50344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:50342400-50344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:50342600-50344800	Enhancers	Adipose Nuclei	Adipose
16	chr10:50342800-50343800	Weak transcription	Dnd41	blood
17	chr10:50343000-50344000	Enhancers	Ovary	ovary
18	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:50343200-50343800	Enhancers	Fetal Muscle Trunk	muscle
20	chr10:50343200-50344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:50343200-50344000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr10:50343200-50344200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:50343200-50344200	Enhancers	Lung	lung
24	chr10:50343400-50343800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr10:50343400-50343800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:50343400-50344200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr10:50343600-50344000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:50343600-50344000	Enhancers	Psoas Muscle	Psoas
29	chr10:50343600-50344000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr10:50343600-50344000	Enhancers	Spleen	Spleen
31	chr10:50343600-50344200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:50343600-50344200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr10:50343600-50344200	Enhancers	Brain Anterior Caudate	brain
34	chr10:50343600-50344200	Enhancers	Esophagus	oesophagus
35	chr10:50343600-50344200	Enhancers	Right Atrium	heart
36	chr10:50343600-50344200	Enhancers	NH-A	brain
37	chr10:50343600-50344400	Enhancers	Aorta	Aorta
38	chr10:50343600-50344600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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