Variant report

Variant	rs73494855
Chromosome Location	chr11:75166940-75166941
allele	C/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	REST	chr11:75166709-75167008	H1-hESC	embryonic stem cell:	n/a	chr11:75166988-75166996
2	TCF12	chr11:75165026-75167050	ECC-1	luminal epithelium:	n/a	chr11:75166191-75166198 chr11:75166414-75166424 chr11:75166311-75166318
3	POLR2A	chr11:75166940-75166978	HepG2	liver:	n/a	n/a
4	TCF12	chr11:75165143-75166954	ECC-1	luminal epithelium:	n/a	chr11:75166191-75166198 chr11:75166414-75166424 chr11:75166311-75166318
5	REST	chr11:75166734-75166941	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr11:75165040-75167087	ECC-1	luminal epithelium:	n/a	chr11:75165915-75165925

No.	Distal block	Cell Line	Cell type
1	chr11:75166133..75168077-chr11:75168681..75171144,2	K562	blood:
2	chr11:75159277..75162323-chr11:75164313..75168722,5	K562	blood:
3	chr11:75166849..75168397-chr11:75246511..75248333,2	MCF-7	breast:
4	chr11:75159277..75161641-chr11:75165363..75168722,5	K562	blood:
5	chr11:75164200..75167156-chr11:75173747..75176083,2	MCF-7	breast:
6	chr11:75165572..75168258-chr11:75186548..75189376,2	K562	blood:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11236443	1.00[EUR][1000 genomes]
rs12577817	1.00[AMR][1000 genomes]
rs17133983	1.00[EUR][1000 genomes]
rs34207030	1.00[AMR][1000 genomes]
rs34462044	1.00[AMR][1000 genomes]
rs34522100	1.00[AMR][1000 genomes]
rs35316816	1.00[AMR][1000 genomes]
rs35753294	1.00[AMR][1000 genomes]
rs35991329	1.00[AMR][1000 genomes]
rs56156833	1.00[AMR][1000 genomes]
rs58745525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59219139	1.00[EUR][1000 genomes]
rs7116757	1.00[EUR][1000 genomes]
rs73494841	1.00[EUR][1000 genomes]
rs73494859	1.00[EUR][1000 genomes]
rs73494864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494869	1.00[EUR][1000 genomes]
rs73494875	1.00[EUR][1000 genomes]
rs73494876	1.00[EUR][1000 genomes]
rs73494878	1.00[EUR][1000 genomes]
rs73494879	1.00[EUR][1000 genomes]
rs73494881	1.00[EUR][1000 genomes]
rs73497013	1.00[EUR][1000 genomes]
rs73505019	1.00[AMR][1000 genomes]
rs73505021	1.00[AMR][1000 genomes]
rs7933166	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:75144600-75174000	Weak transcription	Liver	Liver
4	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
5	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
7	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:75160600-75167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:75160600-75173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
18	chr11:75162200-75171800	Weak transcription	NHDF-Ad	bronchial
19	chr11:75162600-75172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:75163800-75167200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:75164000-75174000	Weak transcription	Lung	lung
24	chr11:75165200-75187000	Strong transcription	HepG2	liver
25	chr11:75165400-75167000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:75165400-75167200	Enhancers	Fetal Brain Female	brain
27	chr11:75165400-75175400	Strong transcription	Fetal Intestine Large	intestine
28	chr11:75165600-75167000	Enhancers	Fetal Brain Male	brain
29	chr11:75165800-75178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:75166000-75167000	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:75166000-75168200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:75166000-75168600	Weak transcription	Adipose Nuclei	Adipose
33	chr11:75166200-75167800	Strong transcription	Spleen	Spleen
34	chr11:75166200-75176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:75166400-75168400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:75166400-75169400	Strong transcription	HSMMtube	muscle
37	chr11:75166400-75178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:75166600-75167000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:75166600-75173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
41	chr11:75166800-75168000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:75166800-75168200	Strong transcription	Fetal Stomach	stomach
43	chr11:75166800-75172200	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:75166800-75174400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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