Variant report

Variant	rs11603691
Chromosome Location	chr11:57107617-57107618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr11:57107574-57108218	HEK293	kidney:	n/a	n/a
2	PBX3	chr11:57107579-57108173	SK-N-SH	brain:	n/a	chr11:57107716-57107727
3	RCOR1	chr11:57107585-57108112	K562	blood:	n/a	n/a

No data

(count:6 , 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	chr11:57106643..57109468-chr11:57279707..57283157,3	K562	blood:
4	chr11:57107455..57109468-chr11:57280824..57283157,2	K562	blood:
5	chr11:57106760..57109570-chr11:57194731..57196556,2	K562	blood:
6	chr11:57107608..57110045-chr11:57388048..57390193,2	K562	blood:

No data

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

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	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896603	0.92[ASN][1000 genomes]
rs10896604	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896605	0.92[ASN][1000 genomes]
rs10896608	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228991	0.85[EUR][1000 genomes]
rs11228995	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228997	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229003	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229011	1.00[ASN][1000 genomes]
rs11602265	0.92[ASN][1000 genomes]
rs11602266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606862	0.80[AMR][1000 genomes]
rs11607950	0.89[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	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12365472	0.96[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	0.92[ASN][1000 genomes]
rs4938863	0.92[ASN][1000 genomes]
rs4938864	1.00[ASN][1000 genomes]
rs61888886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888888	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106462	0.92[ASN][1000 genomes]
rs7111339	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129491	0.89[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: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	chr11:57106600-57107800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:57106600-57108000	Bivalent Enhancer	HepG2	liver
16	chr11:57106800-57108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:57106800-57108200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:57106800-57114200	Enhancers	Fetal Brain Male	brain
19	chr11:57107000-57107800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57107000-57107800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57107000-57107800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr11:57107000-57108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:57107000-57108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:57107000-57108400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr11:57107200-57108000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr11:57107400-57107800	Weak transcription	Fetal Thymus	thymus
27	chr11:57107400-57108000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr11:57107400-57108200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr11:57107400-57108600	Enhancers	K562	blood
30	chr11:57107400-57117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:57107600-57107800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:57107600-57107800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:57107600-57108200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:57107600-57108200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:57107600-57108200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:57107600-57108200	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:57107600-57108400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr11:57107600-57108400	Enhancers	A549	lung
39	chr11:57107600-57117000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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