Variant report

Variant	rs218643
Chromosome Location	chr21:37804221-37804222
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37803051..37804755-chr21:37808756..37811267,2	MCF-7	breast:
2	chr21:37801129..37804550-chr21:37848189..37852893,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159261	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs218645	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs219793	0.81[EUR][1000 genomes]
rs2244034	0.85[EUR][1000 genomes]
rs2633331	0.85[EUR][1000 genomes]
rs2850082	0.85[EUR][1000 genomes]
rs2850086	0.82[EUR][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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37790800-37806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:37800800-37806200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:37801600-37804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:37802000-37805000	Weak transcription	Lung	lung
5	chr21:37802400-37809800	Weak transcription	Pancreas	Pancrea
6	chr21:37802800-37804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:37802800-37804800	Weak transcription	HepG2	liver
8	chr21:37802800-37806600	Weak transcription	Fetal Heart	heart
9	chr21:37802800-37810200	Weak transcription	Right Atrium	heart
10	chr21:37803200-37804400	Flanking Active TSS	HUVEC	blood vessel
11	chr21:37803200-37806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:37803200-37808200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:37803400-37804400	Enhancers	Primary hematopoietic stem cells	blood
14	chr21:37803400-37804400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr21:37803400-37804400	Weak transcription	Fetal Kidney	kidney
16	chr21:37803400-37808000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:37803400-37810000	Weak transcription	Psoas Muscle	Psoas
18	chr21:37803400-37810200	Weak transcription	Ovary	ovary
19	chr21:37803600-37804600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr21:37803600-37805200	Weak transcription	NHDF-Ad	bronchial
21	chr21:37803800-37804400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:37803800-37805200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:37803800-37805200	Weak transcription	NHEK	skin
24	chr21:37803800-37805800	Weak transcription	GM12878-XiMat	blood
25	chr21:37803800-37806000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr21:37803800-37806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:37803800-37806400	Weak transcription	Esophagus	oesophagus
28	chr21:37803800-37806400	Weak transcription	HMEC	breast
29	chr21:37803800-37806600	Weak transcription	NH-A	brain
30	chr21:37803800-37809400	Weak transcription	Osteobl	bone
31	chr21:37803800-37809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:37803800-37810200	Weak transcription	HSMM	muscle
33	chr21:37803800-37811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:37803800-37814200	Weak transcription	Gastric	stomach
35	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:37804000-37804400	Weak transcription	A549	lung
37	chr21:37804000-37805400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:37804000-37806000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr21:37804000-37809400	Weak transcription	NHLF	lung
40	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
42	chr21:37804200-37805000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:37804200-37809600	Weak transcription	Muscle Satellite Cultured Cells	--

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