Variant report

Variant	rs4755351
Chromosome Location	chr11:33039093-33039094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33038166..33041060-chr11:33046643..33049387,2	MCF-7	breast:
2	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
3	chr11:33037810..33039404-chr11:33046604..33049179,2	K562	blood:
4	chr11:33035440..33037281-chr11:33038611..33040663,2	K562	blood:
5	chr11:33035752..33039107-chr11:33059295..33062622,5	K562	blood:

Variant related genes	Relation type
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10767982	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836010	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10836013	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10836015	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10836017	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11032110	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11032111	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11032134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11032143	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11826269	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12360973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12365424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2024968	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2145299	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273538	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273547	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273550	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2900825	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4397819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4755485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756563	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7111384	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv983180	chr11:33026769-33041930	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4755351	TCP11L1	cis	Whole Blood	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33036800-33039400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:33037000-33039200	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:33037000-33039200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:33037000-33039400	Active TSS	Brain Angular Gyrus	brain
5	chr11:33037000-33039800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:33037200-33039200	Active TSS	Fetal Kidney	kidney
7	chr11:33037200-33039800	Active TSS	Duodenum Mucosa	Duodenum
8	chr11:33037200-33039800	Active TSS	Fetal Intestine Small	intestine
9	chr11:33038000-33039800	Flanking Active TSS	Hela-S3	cervix
10	chr11:33038200-33039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:33038200-33039200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr11:33038200-33039200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:33038200-33039400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:33038200-33039400	Active TSS	Fetal Intestine Large	intestine
15	chr11:33038200-33039400	Flanking Active TSS	Fetal Lung	lung
16	chr11:33038200-33039400	Flanking Active TSS	K562	blood
17	chr11:33038200-33039600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:33038200-33039800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:33038200-33040000	Active TSS	Liver	Liver
20	chr11:33038200-33041000	Weak transcription	Aorta	Aorta
21	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:33038400-33039200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:33038400-33039400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr11:33038400-33039400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:33038400-33039600	Flanking Active TSS	HSMMtube	muscle
26	chr11:33038400-33039800	Flanking Active TSS	NHEK	skin
27	chr11:33038400-33043000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:33038600-33039200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:33038600-33039200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr11:33038600-33039200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:33038600-33039200	Enhancers	NHLF	lung
32	chr11:33038600-33039400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:33038600-33039400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:33038600-33039400	Enhancers	Colon Smooth Muscle	Colon
35	chr11:33038600-33039400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:33038600-33039400	Enhancers	NHDF-Ad	bronchial
37	chr11:33038600-33039600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:33038600-33039800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:33038600-33039800	Enhancers	Brain Substantia Nigra	brain
40	chr11:33038800-33039400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr11:33038800-33039400	Enhancers	Brain Hippocampus Middle	brain
42	chr11:33038800-33039400	Enhancers	Osteobl	bone
43	chr11:33038800-33039600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:33038800-33039600	Flanking Active TSS	HSMM	muscle
45	chr11:33038800-33040600	Weak transcription	Brain Anterior Caudate	brain
46	chr11:33038800-33049800	Weak transcription	HMEC	breast
47	chr11:33039000-33039200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:33039000-33039200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:33039000-33039200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:33039000-33039200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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