Variant report

Variant	rs233598
Chromosome Location	chr21:28330838-28330839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28324989..28327965-chr21:28329812..28331437,2	K562	blood:

Variant related genes	Relation type
ENSG00000266133	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs151058	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs151064	0.83[ASN][1000 genomes]
rs229048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229054	0.95[CEU][hapmap]
rs233577	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs233599	1.00[ASN][1000 genomes]
rs233601	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs233894	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs233895	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2830580	0.85[ASN][1000 genomes]
rs2830581	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2830585	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2830586	0.91[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs439517	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:36 , 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	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
6	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
10	chr21:28325600-28331000	Weak transcription	Fetal Kidney	kidney
11	chr21:28325600-28334200	Weak transcription	NHLF	lung
12	chr21:28327200-28334800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:28327400-28331200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:28327400-28333600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:28327600-28332200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:28328000-28333800	Genic enhancers	NHDF-Ad	bronchial
17	chr21:28328800-28334400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr21:28329200-28331000	Weak transcription	Fetal Stomach	stomach
19	chr21:28329400-28334600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:28329600-28334200	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:28330000-28331000	Genic enhancers	Adipose Nuclei	Adipose
22	chr21:28330000-28331000	Strong transcription	Osteobl	bone
23	chr21:28330000-28331200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:28330000-28331400	Enhancers	Brain Germinal Matrix	brain
25	chr21:28330000-28331400	Strong transcription	Fetal Muscle Leg	muscle
26	chr21:28330000-28332200	Genic enhancers	HSMMtube	muscle
27	chr21:28330000-28333000	Genic enhancers	HSMM	muscle
28	chr21:28330200-28332400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
29	chr21:28330200-28334200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr21:28330400-28331200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr21:28330400-28333600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28330600-28331200	Enhancers	Fetal Brain Female	brain
33	chr21:28330600-28331800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:28330800-28331000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:28330800-28331400	Transcr. at gene 5' and 3'	Ovary	ovary
36	chr21:28330800-28334200	Weak transcription	Fetal Brain Male	brain

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