Variant report

Variant	rs2835347
Chromosome Location	chr21:37812012-37812013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37804552..37806868-chr21:37811840..37814057,2	K562	blood:
2	chr21:37806735..37808811-chr21:37809787..37812155,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60581192	0.82[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	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37803800-37814200	Weak transcription	Gastric	stomach
2	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
5	chr21:37810400-37818800	Weak transcription	Pancreas	Pancrea
6	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:37810600-37814000	Weak transcription	K562	blood
8	chr21:37810600-37818200	Weak transcription	NH-A	brain
9	chr21:37810600-37829200	Weak transcription	HSMM	muscle
10	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:37810800-37814600	Weak transcription	Osteobl	bone
12	chr21:37810800-37824600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:37811000-37815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:37811600-37812200	Strong transcription	HUVEC	blood vessel
19	chr21:37811800-37812200	Enhancers	Esophagus	oesophagus
20	chr21:37812000-37812600	Weak transcription	A549	lung
21	chr21:37812000-37818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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