Variant report

Variant	rs11605983
Chromosome Location	chr11:10429618-10429619
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	RAD21	chr11:10426934-10429717	SK-N-SH	brain:	n/a	chr11:10427853-10427862 chr11:10427853-10427865 chr11:10427852-10427865 chr11:10427849-10427868 chr11:10427271-10427280
2	NR3C1	chr11:10429292-10429694	A549	lung:	n/a	n/a
3	TCF7L2	chr11:10429290-10429674	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10428535..10430173-chr11:10471249..10473167,2	MCF-7	breast:
2	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11603317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604905	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606153	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608047	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34095660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34656088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1037131	chr11:10401998-10429998	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553477	chr11:10403539-10429998	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10415600-10436000	Weak transcription	Right Ventricle	heart
2	chr11:10422200-10430800	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:10423000-10430400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:10423000-10430600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:10423800-10430600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:10427200-10431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:10427200-10431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:10427200-10432600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:10427400-10429800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:10427400-10431200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:10427400-10431400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:10427400-10432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:10427400-10432800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:10427600-10429800	Enhancers	NHEK	skin
15	chr11:10427600-10430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:10427600-10432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:10427800-10429800	Enhancers	HMEC	breast
18	chr11:10427800-10430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:10427800-10435000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:10427800-10435200	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:10427800-10436000	Weak transcription	HSMMtube	muscle
22	chr11:10428000-10430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:10428000-10431000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:10428200-10429800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:10428200-10430800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:10428200-10435200	Weak transcription	Dnd41	blood
27	chr11:10428600-10430000	Enhancers	Right Atrium	heart
28	chr11:10428600-10431200	Enhancers	Fetal Brain Male	brain
29	chr11:10428800-10429800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:10428800-10429800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:10428800-10430000	Enhancers	Psoas Muscle	Psoas
32	chr11:10428800-10430400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:10429000-10429800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:10429000-10429800	Enhancers	A549	lung
35	chr11:10429000-10430600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:10429000-10432600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:10429000-10434000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:10429000-10436000	Enhancers	Placenta	Placenta
39	chr11:10429200-10429800	Enhancers	Left Ventricle	heart
40	chr11:10429200-10429800	Enhancers	Lung	lung
41	chr11:10429200-10430600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:10429200-10431800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:10429400-10429800	Enhancers	Esophagus	oesophagus
44	chr11:10429400-10430200	Enhancers	Fetal Brain Female	brain
45	chr11:10429400-10430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:10429600-10430000	Enhancers	NHDF-Ad	bronchial
47	chr11:10429600-10430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:10429600-10430400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:10429600-10430400	Weak transcription	Fetal Thymus	thymus
50	chr11:10429600-10430600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links