Variant report

Variant	rs71484444
Chromosome Location	chr11:57108171-57108172
allele	G/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	RAD21	chr11:57107620-57108266	HCT-116	colon:	n/a	chr11:57107931-57107943 chr11:57107929-57107948 chr11:57107631-57107640
2	KAP1	chr11:57107574-57108218	HEK293	kidney:	n/a	n/a
3	BHLHE40	chr11:57107747-57108198	K562	blood:	n/a	n/a
4	PBX3	chr11:57107579-57108173	SK-N-SH	brain:	n/a	chr11:57107716-57107727
5	CTCF	chr11:57107669-57108221	K562	blood:	n/a	chr11:57107933-57107946 chr11:57107931-57107949
6	RAD21	chr11:57107721-57108175	H1-hESC	embryonic stem cell:	n/a	chr11:57107931-57107943 chr11:57107929-57107948

No.	Distal block	Cell Line	Cell type
1	chr11:57107096..57109188-chr11:57121507..57123782,2	K562	blood:
2	chr11:57102115..57104810-chr11:57107345..57109808,3	MCF-7	breast:
3	chr11:57087945..57090269-chr11:57108134..57111648,3	MCF-7	breast:
4	chr11:57106643..57109468-chr11:57279707..57283157,3	K562	blood:
5	chr11:57107455..57109468-chr11:57280824..57283157,2	K562	blood:
6	chr11:57106760..57109570-chr11:57194731..57196556,2	K562	blood:
7	chr11:57107976..57109909-chr17:57182822..57184926,2	MCF-7	breast:
8	chr11:57107608..57110045-chr11:57388048..57390193,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RX3-2	chr11:57108030-57108201	NONHSAT021408

Variant related genes	Relation type
SSRP1	TF binding region
ENSG00000224738	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000149136	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	0.85[AMR][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789789	1.00[AFR][1000 genomes]
rs12797375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511025	0.81[EUR][1000 genomes]
rs2846046	0.81[EUR][1000 genomes]
rs2851723	0.81[EUR][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34085089	0.85[AMR][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34555300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761603	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366909	1.00[AFR][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35407832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536636	1.00[AFR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484440	0.85[AMR][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484443	0.94[EUR][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][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	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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57103800-57110000	Weak transcription	Fetal Brain Female	brain
2	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
4	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
5	chr11:57104200-57117000	Weak transcription	Liver	Liver
6	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:57104400-57109000	Weak transcription	GM12878-XiMat	blood
8	chr11:57104400-57111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:57104600-57108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:57105400-57108200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:57105400-57108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:57106400-57108200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:57106400-57108400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:57106800-57108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:57106800-57108200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
17	chr11:57107000-57108400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr11:57107400-57108200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:57107400-57108600	Enhancers	K562	blood
20	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:57107600-57108200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:57107600-57108200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:57107600-57108200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:57107600-57108200	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:57107600-57108400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr11:57107600-57108400	Enhancers	A549	lung
27	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:57107800-57108200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:57107800-57108200	Enhancers	Fetal Thymus	thymus
30	chr11:57107800-57110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:57107800-57110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:57108000-57108200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:57108000-57108200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr11:57108000-57108200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr11:57108000-57108200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr11:57108000-57108200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:57108000-57108600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr11:57108000-57108600	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr11:57108000-57113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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