Variant report

Variant	rs11102492
Chromosome Location	chr1:113085157-113085158
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	CEBPB	chr1:113084742-113085165	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ST7L	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11102490	1.00[AMR][1000 genomes]
rs11102500	1.00[AMR][1000 genomes]
rs12069022	1.00[AMR][1000 genomes]
rs12080006	1.00[AMR][1000 genomes]
rs12082350	1.00[AMR][1000 genomes]
rs12091635	1.00[AMR][1000 genomes]
rs12094504	1.00[AMR][1000 genomes]
rs17030446	1.00[AMR][1000 genomes]
rs17030451	1.00[AMR][1000 genomes]
rs17030455	1.00[AMR][1000 genomes]
rs17030475	1.00[AMR][1000 genomes]
rs59324334	1.00[AMR][1000 genomes]
rs72993070	1.00[AMR][1000 genomes]
rs72993072	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:113055800-113085200	Weak transcription	Thymus	Thymus
3	chr1:113058400-113086600	Weak transcription	A549	lung
4	chr1:113058800-113119400	Weak transcription	HepG2	liver
5	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
6	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
7	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
11	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
12	chr1:113065800-113086200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:113066000-113088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:113066200-113114400	Weak transcription	Dnd41	blood
17	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
18	chr1:113067800-113090200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:113068000-113089600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:113068000-113100200	Weak transcription	Fetal Heart	heart
21	chr1:113068600-113086400	Weak transcription	HUVEC	blood vessel
22	chr1:113068800-113087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:113070400-113086000	Weak transcription	Spleen	Spleen
24	chr1:113070400-113095400	Weak transcription	Gastric	stomach
25	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
26	chr1:113070600-113088200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:113070600-113111600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:113070600-113112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:113070600-113112400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
33	chr1:113071200-113090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:113072000-113114400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:113072600-113087000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:113076400-113115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:113078800-113090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:113079600-113087000	Weak transcription	HSMMtube	muscle
39	chr1:113080000-113085400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:113080200-113085800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:113080800-113085400	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:113081000-113086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
46	chr1:113081400-113086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:113081600-113085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:113081600-113085200	Strong transcription	Placenta	Placenta
50	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood

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