Variant report

Variant	rs73454028
Chromosome Location	chr11:46717881-46717882
allele	A/G
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	POLR2A	chr11:46717878-46718014	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:46717570-46717912	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46717070-46717979	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:46717441-46718244	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46717717-46718028	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46714752..46720031-chr11:46720626..46723177,8	MCF-7	breast:
2	chr11:46637809..46639630-chr11:46716383..46720215,3	K562	blood:

Variant related genes	Relation type
ZNF408	TF binding region
ARHGAP1	TF binding region
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60890473	1.00[AFR][1000 genomes]
rs73449978	1.00[AFR][1000 genomes]
rs73454020	1.00[AFR][1000 genomes]
rs73454083	1.00[AFR][1000 genomes]
rs73454096	1.00[AFR][1000 genomes]
rs73456128	1.00[AFR][1000 genomes]
rs73466080	1.00[AFR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:46699200-46719000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:46700400-46718800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:46701800-46718600	Strong transcription	Fetal Intestine Large	intestine
7	chr11:46702600-46721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:46702800-46718400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:46703000-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:46706600-46718000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:46707000-46719000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:46707200-46719000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:46707400-46718400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:46707600-46718600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:46707600-46719000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:46707800-46719800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:46708400-46718200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:46708800-46718800	Strong transcription	Lung	lung
19	chr11:46709800-46719000	Strong transcription	Fetal Stomach	stomach
20	chr11:46710000-46718600	Weak transcription	Right Atrium	heart
21	chr11:46711000-46719200	Weak transcription	Fetal Brain Male	brain
22	chr11:46711800-46719000	Strong transcription	Dnd41	blood
23	chr11:46712000-46718000	Strong transcription	Fetal Lung	lung
24	chr11:46712000-46718600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:46712000-46719400	Strong transcription	Fetal Intestine Small	intestine
26	chr11:46712200-46718800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:46712200-46719400	Strong transcription	Fetal Brain Female	brain
28	chr11:46712400-46718600	Strong transcription	Thymus	Thymus
29	chr11:46713400-46718600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:46713400-46719000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:46713600-46718600	Enhancers	Fetal Heart	heart
32	chr11:46713600-46719000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:46714200-46720200	Weak transcription	A549	lung
34	chr11:46714400-46718200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:46714600-46720600	Genic enhancers	Placenta	Placenta
36	chr11:46714800-46718200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:46714800-46718200	Strong transcription	Fetal Thymus	thymus
38	chr11:46715000-46718000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:46715000-46719000	Strong transcription	Primary T cells from cord blood	blood
40	chr11:46715000-46719800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:46715200-46718000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:46715200-46718000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:46715200-46719400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr11:46715200-46721200	Genic enhancers	Fetal Muscle Leg	muscle
45	chr11:46715400-46719000	Genic enhancers	Adipose Nuclei	Adipose
46	chr11:46715400-46720000	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr11:46715600-46718000	Genic enhancers	Esophagus	oesophagus
48	chr11:46715600-46718000	Genic enhancers	Right Ventricle	heart
49	chr11:46715600-46718200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:46715600-46718600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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