Variant report

Variant	rs12481853
Chromosome Location	chr21:37810750-37810751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37809152..37811689-chr21:37812643..37814286,2	MCF-7	breast:
2	chr21:37806735..37808811-chr21:37809787..37812155,2	MCF-7	breast:
3	chr21:37803051..37804755-chr21:37808756..37811267,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1076836	1.00[JPT][hapmap]
rs11088348	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12106450	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482585	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994107	1.00[EUR][1000 genomes]
rs218634	1.00[JPT][hapmap]
rs2850101	1.00[ASN][1000 genomes]
rs73902523	1.00[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37803800-37811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:37803800-37814200	Weak transcription	Gastric	stomach
3	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
6	chr21:37806200-37811800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:37808000-37811800	Weak transcription	Esophagus	oesophagus
8	chr21:37809000-37810800	Enhancers	HUVEC	blood vessel
9	chr21:37809200-37810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:37809400-37810800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:37809400-37810800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:37809400-37810800	Enhancers	NHDF-Ad	bronchial
13	chr21:37809400-37810800	Enhancers	Osteobl	bone
14	chr21:37809400-37811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:37809600-37810800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:37809600-37810800	Enhancers	NHEK	skin
17	chr21:37809800-37810800	Enhancers	Primary hematopoietic stem cells	blood
18	chr21:37809800-37810800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:37810200-37810800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:37810400-37818800	Weak transcription	Pancreas	Pancrea
21	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:37810600-37810800	Enhancers	A549	lung
23	chr21:37810600-37814000	Weak transcription	K562	blood
24	chr21:37810600-37818200	Weak transcription	NH-A	brain
25	chr21:37810600-37829200	Weak transcription	HSMM	muscle
26	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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