Variant report

Variant	rs58956786
Chromosome Location	chr11:77093410-77093411
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	TCF12	chr11:77092714-77093782	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:77093318-77093598	T-47D	breast:	n/a	n/a
3	STAT3	chr11:77093355-77093626	MCF10A-Er-Src	breast:	n/a	chr11:77093518-77093529
4	EP300	chr11:77093367-77093569	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr11:77093240-77093773	HUVEC	blood vessel:	n/a	n/a
6	STAT3	chr11:77093405-77093647	MCF10A-Er-Src	breast:	n/a	chr11:77093518-77093529
7	GATA3	chr11:77093229-77093741	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:77093138-77093834	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr11:77093204-77093709	SK-N-SH	brain:	n/a	n/a
10	GATA2	chr11:77092965-77093740	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr11:77093359-77093761	HUVEC	blood vessel:	n/a	n/a
12	GATA3	chr11:77093336-77093604	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
PAK1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1130059	0.86[EUR][1000 genomes]
rs1453342	1.00[EUR][1000 genomes]
rs17135578	1.00[EUR][1000 genomes]
rs17135582	1.00[EUR][1000 genomes]
rs17135588	0.93[EUR][1000 genomes]
rs17135589	1.00[EUR][1000 genomes]
rs17135598	1.00[EUR][1000 genomes]
rs28418374	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28561651	0.80[EUR][1000 genomes]
rs59602069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59695040	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs60470770	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
4	chr11:77064200-77102800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:77067000-77093800	Weak transcription	Psoas Muscle	Psoas
6	chr11:77067000-77097000	Weak transcription	Esophagus	oesophagus
7	chr11:77067200-77111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:77068800-77097000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:77070000-77102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:77075200-77097200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:77081000-77094600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:77081200-77095600	Strong transcription	GM12878-XiMat	blood
13	chr11:77081200-77096600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:77082000-77095600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:77082000-77096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:77082200-77095800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:77082400-77104200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:77084000-77111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:77084200-77107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:77084400-77103600	Weak transcription	Fetal Kidney	kidney
21	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
22	chr11:77086400-77108000	Weak transcription	Brain Anterior Caudate	brain
23	chr11:77086600-77102200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
25	chr11:77087200-77106800	Weak transcription	NHEK	skin
26	chr11:77088200-77095800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:77089400-77101200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:77090600-77094600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:77090800-77094400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:77090800-77094800	Weak transcription	Fetal Thymus	thymus
31	chr11:77090800-77096800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:77090800-77097000	Weak transcription	Ovary	ovary
33	chr11:77090800-77097200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:77090800-77103000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:77090800-77103200	Weak transcription	Liver	Liver
36	chr11:77090800-77104200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:77090800-77104400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:77090800-77106400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:77090800-77111200	Weak transcription	HMEC	breast
40	chr11:77091000-77093600	Enhancers	Fetal Intestine Large	intestine
41	chr11:77091000-77093600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:77091000-77094000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:77091000-77094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:77091000-77094600	Weak transcription	Dnd41	blood
45	chr11:77091000-77094800	Weak transcription	Primary B cells from cord blood	blood
46	chr11:77091000-77096400	Weak transcription	Lung	lung
47	chr11:77091000-77097000	Weak transcription	Fetal Brain Female	brain
48	chr11:77091000-77098600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:77091000-77103600	Weak transcription	Aorta	Aorta
50	chr11:77091000-77103800	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links