Variant report

Variant	rs11229003
Chromosome Location	chr11:57108291-57108292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57108218-57108317	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

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 data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10792086	0.92[ASN][1000 genomes]
rs10792088	0.92[ASN][1000 genomes]
rs10792089	0.92[ASN][1000 genomes]
rs10792091	1.00[ASN][1000 genomes]
rs10896598	1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.85[EUR][1000 genomes]
rs11228995	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11602266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603691	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361969	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12364724	0.82[EUR][1000 genomes]
rs12365472	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576878	0.92[ASN][1000 genomes]
rs1815769	1.00[ASN][1000 genomes]
rs2230649	0.92[ASN][1000 genomes]
rs34135716	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951793	0.92[ASN][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:28 , 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	chr11:57105400-57108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:57106400-57108400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
13	chr11:57107000-57108400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr11:57107400-57108600	Enhancers	K562	blood
15	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:57107600-57108400	Bivalent Enhancer	Fetal Stomach	stomach
17	chr11:57107600-57108400	Enhancers	A549	lung
18	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:57107800-57110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:57107800-57110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57108000-57108600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr11:57108000-57108600	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr11:57108000-57113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:57108200-57108400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr11:57108200-57108400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr11:57108200-57109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57108200-57110200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:57108200-57110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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