Variant report

Variant	rs140746116
Chromosome Location	chr21:28326781-28326782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3404627	chr21:28326281-28329379	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	miRNA	n/a	inside rSNPs	n/a
6	esv3433032	chr21:28326731-28329129	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
4	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:28318600-28327000	Weak transcription	Psoas Muscle	Psoas
6	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
8	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:28319400-28328600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:28319600-28328400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:28321000-28326800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:28321000-28328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:28322000-28327400	Strong transcription	Osteobl	bone
15	chr21:28322600-28328400	Weak transcription	Fetal Stomach	stomach
16	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:28324600-28326800	Genic enhancers	Adipose Nuclei	Adipose
18	chr21:28324600-28327600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28324600-28327600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:28325000-28326800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:28325000-28327000	Genic enhancers	HSMMtube	muscle
22	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
23	chr21:28325200-28327000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:28325200-28327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:28325400-28326800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:28325400-28327000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr21:28325600-28327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:28325600-28330200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:28325600-28331000	Weak transcription	Fetal Kidney	kidney
30	chr21:28325600-28334200	Weak transcription	NHLF	lung
31	chr21:28325800-28328000	Enhancers	NHDF-Ad	bronchial
32	chr21:28326200-28327000	Weak transcription	Fetal Brain Female	brain
33	chr21:28326200-28328600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:28326400-28327000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:28326400-28329000	Genic enhancers	HSMM	muscle
36	chr21:28326400-28330800	Enhancers	Fetal Brain Male	brain
37	chr21:28326600-28326800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:28326600-28327000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr21:28326600-28327200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:28326600-28327200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:28326600-28327200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr21:28326600-28327200	Genic enhancers	Ovary	ovary
43	chr21:28326600-28327400	Enhancers	Brain Germinal Matrix	brain

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