Variant report

Variant	rs17133983
Chromosome Location	chr11:75173218-75173219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:75172811-75173955	ECC-1	luminal epithelium:	n/a	chr11:75173377-75173385
2	ATF2	chr11:75173174-75173585	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:75173064-75173820	ECC-1	luminal epithelium:	n/a	n/a
4	NR3C1	chr11:75173072-75173546	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr11:75172903-75174290	ECC-1	luminal epithelium:	n/a	chr11:75173377-75173385
6	ZBTB7A	chr11:75173021-75174166	ECC-1	luminal epithelium:	n/a	n/a
7	FOXM1	chr11:75172827-75173811	ECC-1	luminal epithelium:	n/a	n/a
8	YY1	chr11:75173118-75173642	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr11:75173000-75173555	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr11:75172991-75173557	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr11:75173111-75173697	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr11:75173000-75173674	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr11:75172997-75173630	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr11:75172942-75174299	ECC-1	luminal epithelium:	n/a	n/a
15	CTBP2	chr11:75173095-75173663	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFIC	chr11:75172925-75174206	ECC-1	luminal epithelium:	n/a	n/a
17	TEAD4	chr11:75172976-75173756	ECC-1	luminal epithelium:	n/a	n/a
18	ZBTB7A	chr11:75172936-75174305	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr11:75171808-75174602	ECC-1	luminal epithelium:	n/a	chr11:75174560-75174569
20	NR3C1	chr11:75173171-75173477	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr11:75173049-75173562	ECC-1	luminal epithelium:	n/a	n/a
22	TEAD4	chr11:75173184-75173645	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr11:75172867-75173796	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr11:75173178-75173662	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr11:75173210-75173563	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXM1	chr11:75172548-75173830	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr11:75172998-75174202	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr11:75172904-75174283	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75172501..75175178-chr11:75216846..75218969,2	K562	blood:
2	chr11:75171275..75173319-chr11:75174538..75177396,2	K562	blood:
3	chr11:75172761..75175678-chr11:75175909..75177815,2	MCF-7	breast:
4	chr11:75166133..75169572-chr11:75169644..75173487,4	K562	blood:
5	chr11:75109689..75111968-chr11:75171052..75174187,3	K562	blood:
6	chr11:75168335..75170323-chr11:75172827..75175510,2	K562	blood:

No data

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000149273	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11236443	1.00[EUR][1000 genomes]
rs12269891	1.00[CEU][hapmap]
rs12277045	1.00[CEU][hapmap]
rs17134159	1.00[MEX][hapmap]
rs58745525	1.00[EUR][1000 genomes]
rs59219139	1.00[EUR][1000 genomes]
rs7105575	1.00[MEX][hapmap]
rs7116029	1.00[AMR][1000 genomes]
rs7116757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126260	1.00[AMR][1000 genomes]
rs73494841	1.00[EUR][1000 genomes]
rs73494855	1.00[EUR][1000 genomes]
rs73494859	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494864	1.00[EUR][1000 genomes]
rs73494869	1.00[EUR][1000 genomes]
rs73494875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494881	1.00[EUR][1000 genomes]
rs73497013	1.00[EUR][1000 genomes]
rs7933166	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[AMR][1000 genomes];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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17133983	RNF183	trans	lymphoblastoid	seeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

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	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
5	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
6	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
10	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:75164000-75174000	Weak transcription	Lung	lung
13	chr11:75165200-75187000	Strong transcription	HepG2	liver
14	chr11:75165400-75175400	Strong transcription	Fetal Intestine Large	intestine
15	chr11:75165800-75178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:75166200-75176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:75166400-75178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
19	chr11:75166800-75174400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:75167400-75180400	Weak transcription	Aorta	Aorta
21	chr11:75168200-75177200	Weak transcription	Fetal Stomach	stomach
22	chr11:75168400-75183400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:75168800-75173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:75169200-75177400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:75171000-75173600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:75171000-75173600	Strong transcription	Adipose Nuclei	Adipose
27	chr11:75172000-75175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:75172000-75184400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:75172200-75175800	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:75172200-75176800	Weak transcription	Fetal Brain Female	brain
31	chr11:75172200-75184400	Enhancers	Spleen	Spleen
32	chr11:75172400-75175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:75172400-75176200	Weak transcription	HSMMtube	muscle
34	chr11:75172400-75179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:75172400-75183200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:75172600-75174200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:75172600-75174600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:75172600-75175000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:75172600-75180400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:75172800-75173600	Enhancers	NH-A	brain
41	chr11:75172800-75174000	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:75172800-75174200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:75172800-75174400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:75172800-75174400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:75172800-75174600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:75172800-75175000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:75172800-75175000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:75172800-75175200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:75173000-75173400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:75173000-75173600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links