Variant report

Variant	rs73486922
Chromosome Location	chr11:59381160-59381161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:59381028-59381308	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:59381064-59381220	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
3	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
4	chr11:59379949..59382151-chr11:59418599..59421025,2	MCF-7	breast:
5	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
6	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
7	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
8	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
9	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
10	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
11	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
12	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
13	chr11:59379168..59382086-chr11:59390043..59391768,2	MCF-7	breast:
14	chr11:59309329..59311189-chr11:59379194..59381372,2	K562	blood:
15	chr11:59364283..59366462-chr11:59380493..59382759,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000110048	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000255355	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11229984	1.00[AMR][1000 genomes]
rs11230060	1.00[AMR][1000 genomes]
rs12272496	1.00[AMR][1000 genomes]
rs12275935	1.00[AMR][1000 genomes]
rs12276470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283319	1.00[AMR][1000 genomes]
rs12288523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293459	1.00[AMR][1000 genomes]
rs12295294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571182	1.00[AMR][1000 genomes]
rs28573682	1.00[AMR][1000 genomes]
rs57137541	1.00[AMR][1000 genomes]
rs58485629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60434270	1.00[AMR][1000 genomes]
rs7129130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484858	1.00[AMR][1000 genomes]
rs73488876	1.00[AMR][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	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59334200-59382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:59343800-59382000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:59358400-59382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:59376200-59381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:59376400-59382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:59377800-59381200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:59378000-59381200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:59378000-59381400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:59378000-59382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:59378000-59382000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:59378000-59382000	Weak transcription	Lung	lung
12	chr11:59378200-59381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:59378200-59381200	Weak transcription	NH-A	brain
14	chr11:59378200-59381400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:59378200-59381600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:59378200-59381600	Enhancers	Fetal Intestine Large	intestine
17	chr11:59378200-59381800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:59378600-59381400	Enhancers	Brain Germinal Matrix	brain
19	chr11:59378800-59381600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:59378800-59381600	Enhancers	Fetal Intestine Small	intestine
21	chr11:59378800-59381800	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:59378800-59382000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:59378800-59382000	Enhancers	Colon Smooth Muscle	Colon
24	chr11:59378800-59382200	Enhancers	Fetal Brain Male	brain
25	chr11:59379000-59381200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:59379000-59381200	Enhancers	Brain Hippocampus Middle	brain
27	chr11:59379000-59381200	Genic enhancers	Dnd41	blood
28	chr11:59379000-59381800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:59379000-59382000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:59379000-59382000	Enhancers	Stomach Mucosa	stomach
31	chr11:59379200-59381200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:59379200-59381200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:59379200-59381200	Weak transcription	HUVEC	blood vessel
34	chr11:59379200-59381200	Enhancers	NHDF-Ad	bronchial
35	chr11:59379200-59381400	Genic enhancers	K562	blood
36	chr11:59379200-59381600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:59379200-59381600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:59379200-59382000	Enhancers	Brain Substantia Nigra	brain
39	chr11:59379200-59382200	Enhancers	Small Intestine	intestine
40	chr11:59379400-59381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:59379400-59381200	Enhancers	Right Ventricle	heart
42	chr11:59379400-59381200	Genic enhancers	Hela-S3	cervix
43	chr11:59379400-59381400	Enhancers	Brain Angular Gyrus	brain
44	chr11:59379400-59382200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:59379600-59381200	Enhancers	Fetal Brain Female	brain
46	chr11:59379600-59381200	Enhancers	HSMMtube	muscle
47	chr11:59379600-59381400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:59379600-59381400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:59379600-59381800	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr11:59379800-59381400	Enhancers	Brain Anterior Caudate	brain

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