Variant report

Variant	rs60581192
Chromosome Location	chr21:37809706-37809707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37809152..37811689-chr21:37812643..37814286,2	MCF-7	breast:
2	chr21:37803051..37804755-chr21:37808756..37811267,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1994460	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835347	0.82[AFR][1000 genomes]
rs2835350	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558907	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671293	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933349	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60419768	0.89[EUR][1000 genomes]
rs73902514	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73902521	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73902525	0.89[EUR][1000 genomes];0.87[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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37802400-37809800	Weak transcription	Pancreas	Pancrea
2	chr21:37802800-37810200	Weak transcription	Right Atrium	heart
3	chr21:37803400-37810000	Weak transcription	Psoas Muscle	Psoas
4	chr21:37803400-37810200	Weak transcription	Ovary	ovary
5	chr21:37803800-37809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:37803800-37810200	Weak transcription	HSMM	muscle
7	chr21:37803800-37811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:37803800-37814200	Weak transcription	Gastric	stomach
9	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
12	chr21:37804400-37809800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:37804400-37809800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:37806200-37811800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:37807200-37810200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:37808000-37811800	Weak transcription	Esophagus	oesophagus
17	chr21:37809000-37810800	Enhancers	HUVEC	blood vessel
18	chr21:37809200-37810600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:37809200-37810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:37809400-37809800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr21:37809400-37809800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr21:37809400-37810400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:37809400-37810400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr21:37809400-37810600	Enhancers	HMEC	breast
25	chr21:37809400-37810600	Enhancers	NH-A	brain
26	chr21:37809400-37810600	Enhancers	NHLF	lung
27	chr21:37809400-37810800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:37809400-37810800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:37809400-37810800	Enhancers	NHDF-Ad	bronchial
30	chr21:37809400-37810800	Enhancers	Osteobl	bone
31	chr21:37809400-37811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr21:37809600-37809800	Flanking Active TSS	A549	lung
33	chr21:37809600-37810600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:37809600-37810600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:37809600-37810600	Enhancers	Hela-S3	cervix
36	chr21:37809600-37810600	Enhancers	K562	blood
37	chr21:37809600-37810800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr21:37809600-37810800	Enhancers	NHEK	skin

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