Variant report

Variant	rs480244
Chromosome Location	chr11:100706720-100706721
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:100706563-100706896	GM12878	blood:	n/a	n/a
2	MXI1	chr11:100706661-100706868	GM12878	blood:	n/a	n/a
3	EBF1	chr11:100706558-100706936	GM12878	blood:	n/a	chr11:100706720-100706731

Variant related genes	Relation type
ARHGAP42	TF binding region
RN7SKP115	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55753301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs619191	0.80[AFR][1000 genomes]
rs635853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs654257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs655175	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs659066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs680419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932488	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100698800-100712400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:100701600-100708200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:100701600-100717000	Weak transcription	Fetal Kidney	kidney
5	chr11:100702800-100707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:100703000-100706800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:100703000-100707400	Weak transcription	NH-A	brain
8	chr11:100703000-100707600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:100703000-100710800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:100703200-100707800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:100703800-100707400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:100703800-100712400	Weak transcription	Left Ventricle	heart
14	chr11:100704000-100707600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:100704400-100710200	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:100704600-100706800	Weak transcription	NHDF-Ad	bronchial
17	chr11:100704600-100707200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:100704600-100708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:100704600-100719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:100704800-100710400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:100705200-100711200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:100705200-100711800	Weak transcription	Stomach Mucosa	stomach
23	chr11:100705400-100706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:100705400-100707000	Weak transcription	Psoas Muscle	Psoas
25	chr11:100705400-100711800	Weak transcription	A549	lung
26	chr11:100705400-100712000	Weak transcription	Liver	Liver
27	chr11:100705400-100712600	Weak transcription	HSMMtube	muscle
28	chr11:100706400-100707200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:100706600-100707400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:100706600-100709200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links