Variant report

Variant	rs57052969
Chromosome Location	chr11:9163146-9163147
allele	C/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	POLR2A	chr11:9163145-9163429	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:

Variant related genes	Relation type
SCUBE2	TF binding region
ENSG00000175356	Chromatin interaction
ENSG00000264984	Chromatin interaction
ENSG00000213538	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs7119887	1.00[EUR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]
rs7948651	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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
4	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9153600-9164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
8	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:9158400-9164600	Strong transcription	GM12878-XiMat	blood
11	chr11:9158600-9165600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr11:9158800-9165000	Strong transcription	Fetal Brain Female	brain
13	chr11:9158800-9166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9158800-9166600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:9159000-9163200	Genic enhancers	HUVEC	blood vessel
16	chr11:9159000-9168000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:9159000-9169400	Strong transcription	Fetal Intestine Small	intestine
18	chr11:9159000-9170200	Genic enhancers	Brain Hippocampus Middle	brain
19	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:9159200-9163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:9159400-9170200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:9159400-9174400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
24	chr11:9159800-9163200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr11:9159800-9163200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr11:9159800-9165000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:9159800-9169200	Strong transcription	Right Ventricle	heart
28	chr11:9159800-9183400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:9160000-9163200	Strong transcription	Brain Substantia Nigra	brain
30	chr11:9160000-9163400	Strong transcription	Brain Angular Gyrus	brain
31	chr11:9160000-9174000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:9160000-9177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:9160200-9164000	Strong transcription	Brain Germinal Matrix	brain
34	chr11:9160200-9166200	Strong transcription	Fetal Thymus	thymus
35	chr11:9160200-9168000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:9160200-9174600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:9160200-9174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:9160200-9175600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:9160400-9167800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:9160400-9171400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:9160400-9174200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:9160400-9175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:9160600-9172000	Strong transcription	Colon Smooth Muscle	Colon
44	chr11:9160600-9174000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:9160600-9174200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:9160600-9174200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:9160600-9175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:9160800-9164200	Weak transcription	Colonic Mucosa	Colon
49	chr11:9160800-9166200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:9160800-9167000	Weak transcription	Rectal Mucosa Donor 31	rectum

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