Variant report

Variant	rs73906313
Chromosome Location	chr21:39875531-39875532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39868583..39871033-chr21:39873297..39876116,2	K562	blood:
2	chr21:39860012..39862527-chr21:39874873..39876788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157554	Chromatin interaction

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

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

rs_ID	r²[population]
rs17230638	1.00[ASN][1000 genomes]
rs17230645	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836421	0.83[ASN][1000 genomes]
rs2836468	0.80[EUR][1000 genomes]
rs2836470	0.80[EUR][1000 genomes]
rs3787911	0.80[EUR][1000 genomes]
rs59887250	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7283796	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73906316	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:39862000-39877400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:39867000-39878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:39867200-39877200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:39870000-39875800	Weak transcription	Fetal Lung	lung
6	chr21:39870400-39875600	Weak transcription	Right Atrium	heart
7	chr21:39870800-39875600	Weak transcription	Lung	lung
8	chr21:39871400-39877200	Weak transcription	Spleen	Spleen
9	chr21:39871400-39878600	Weak transcription	Fetal Thymus	thymus
10	chr21:39871800-39875800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr21:39871800-39876400	Weak transcription	Primary B cells from cord blood	blood
12	chr21:39875000-39877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:39875000-39878600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr21:39875000-39878600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:39875000-39879200	Flanking Active TSS	HUVEC	blood vessel
16	chr21:39875200-39875800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr21:39875200-39875800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:39875200-39875800	Enhancers	Osteobl	bone
19	chr21:39875200-39876000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:39875200-39876000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr21:39875200-39876000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:39875200-39876200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:39875200-39876400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:39875200-39876400	Enhancers	Primary hematopoietic stem cells	blood
25	chr21:39875200-39879400	Active TSS	Aorta	Aorta
26	chr21:39875400-39875600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:39875400-39875800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:39875400-39875800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr21:39875400-39875800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr21:39875400-39875800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr21:39875400-39875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:39875400-39875800	Enhancers	HSMMtube	muscle
33	chr21:39875400-39876000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:39875400-39876000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:39875400-39876000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:39875400-39876000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:39875400-39876000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
38	chr21:39875400-39876000	Active TSS	Brain Hippocampus Middle	brain
39	chr21:39875400-39876000	Active TSS	Left Ventricle	heart
40	chr21:39875400-39876000	Flanking Active TSS	NHEK	skin
41	chr21:39875400-39876200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr21:39875400-39876200	Active TSS	Right Ventricle	heart
43	chr21:39875400-39876200	Flanking Active TSS	NH-A	brain
44	chr21:39875400-39876400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:39875400-39876400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr21:39875400-39876400	Flanking Active TSS	HMEC	breast
47	chr21:39875400-39877600	Active TSS	Psoas Muscle	Psoas
48	chr21:39875400-39878200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:39875400-39878600	Enhancers	Primary monocytes fromperipheralblood	blood

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