Variant report

Variant	rs11088348
Chromosome Location	chr21:37806644-37806645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37804649..37806977-chr21:37848671..37850557,2	K562	blood:
2	chr21:37804552..37806868-chr21:37811840..37814057,2	K562	blood:
3	chr21:37801744..37805294-chr21:37805490..37808264,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1076836	1.00[JPT][hapmap]
rs12106450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12481853	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12482313	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12482585	1.00[EUR][1000 genomes]
rs16994107	1.00[EUR][1000 genomes]
rs218634	1.00[JPT][hapmap]
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: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	chr21:37803200-37808200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:37803400-37808000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:37803400-37810000	Weak transcription	Psoas Muscle	Psoas
6	chr21:37803400-37810200	Weak transcription	Ovary	ovary
7	chr21:37803800-37809400	Weak transcription	Osteobl	bone
8	chr21:37803800-37809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:37803800-37810200	Weak transcription	HSMM	muscle
10	chr21:37803800-37811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:37803800-37814200	Weak transcription	Gastric	stomach
12	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:37804000-37809400	Weak transcription	NHLF	lung
14	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
16	chr21:37804200-37809600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:37804400-37807400	Enhancers	A549	lung
18	chr21:37804400-37807400	Genic enhancers	HUVEC	blood vessel
19	chr21:37804400-37809200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:37804400-37809800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:37804400-37809800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:37804800-37807200	Enhancers	HepG2	liver
23	chr21:37805200-37808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:37805400-37809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:37805600-37806800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:37805600-37809400	Weak transcription	NHDF-Ad	bronchial
27	chr21:37806000-37807000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr21:37806200-37811800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:37806400-37806800	Enhancers	GM12878-XiMat	blood
30	chr21:37806400-37807200	Enhancers	Esophagus	oesophagus
31	chr21:37806400-37808000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:37806400-37808000	Enhancers	HMEC	breast
33	chr21:37806600-37807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:37806600-37807200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr21:37806600-37807400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr21:37806600-37807400	Enhancers	Fetal Heart	heart
37	chr21:37806600-37807400	Enhancers	NH-A	brain
38	chr21:37806600-37808000	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links