Variant report

Variant	rs569253344
Chromosome Location	chr11:57007493-57007494
allele	C/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	chr11:57007219-57009560	SK-N-SH	brain:	n/a	chr11:57009230-57009240 chr11:57008593-57008607 chr11:57007390-57007397
2	MXI1	chr11:57007471-57009654	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
APLNR	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3373066	chr11:57007276-57011574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:57004200-57009200	Weak transcription	Gastric	stomach
3	chr11:57005000-57009200	Weak transcription	Fetal Lung	lung
4	chr11:57005200-57008200	Weak transcription	Right Atrium	heart
5	chr11:57005200-57009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:57005200-57009200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57005200-57009200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:57005200-57009200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:57005200-57009200	Weak transcription	Left Ventricle	heart
10	chr11:57005200-57009200	Weak transcription	Lung	lung
11	chr11:57005200-57009800	Enhancers	K562	blood
12	chr11:57005200-57016400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:57005400-57007600	Weak transcription	Placenta	Placenta
14	chr11:57005400-57007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:57005400-57008200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:57005400-57008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57005400-57008400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:57005400-57010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:57005600-57007600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:57005600-57009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:57006000-57007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:57006000-57007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:57006000-57008400	Weak transcription	Spleen	Spleen
24	chr11:57006200-57007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:57006200-57008000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:57006200-57008200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:57006800-57009200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:57006800-57009600	Enhancers	Liver	Liver
29	chr11:57006800-57010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:57007000-57008800	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:57007000-57009400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:57007000-57010000	Enhancers	A549	lung
33	chr11:57007200-57007600	Enhancers	Stomach Mucosa	stomach
34	chr11:57007200-57008000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:57007200-57008000	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:57007200-57011400	Enhancers	Fetal Muscle Leg	muscle
37	chr11:57007400-57007600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:57007400-57009000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:57007400-57010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:57007400-57010400	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links