Variant report

Variant	rs1777617
Chromosome Location	chr1:112992826-112992827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1175626	1.00[AFR][1000 genomes]
rs1175635	1.00[AFR][1000 genomes]
rs2488784	1.00[AFR][1000 genomes]
rs2780270	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv159278	chr1:112992010-112994957	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:112965800-112996200	Weak transcription	Placenta	Placenta
6	chr1:112968600-112994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:112968600-112995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:112968600-112995600	Weak transcription	Colonic Mucosa	Colon
9	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:112976200-112994200	Weak transcription	Psoas Muscle	Psoas
11	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
12	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
13	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:112981800-112996600	Weak transcription	Liver	Liver
17	chr1:112982000-112996800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:112982000-112998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:112982600-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:112982800-112998800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:112984400-112995600	Weak transcription	Fetal Kidney	kidney
22	chr1:112986400-112998600	Weak transcription	Aorta	Aorta
23	chr1:112987800-112996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:112987800-112998600	Weak transcription	Gastric	stomach
25	chr1:112988000-112993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:112988000-112994000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:112988600-112995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:112988600-112998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
30	chr1:112988800-112998200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:112988800-113008400	Weak transcription	A549	lung
32	chr1:112989200-112993600	Weak transcription	NHDF-Ad	bronchial
33	chr1:112989400-112995200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:112989400-112995400	Weak transcription	Lung	lung
35	chr1:112989400-112998200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:112989400-112998800	Weak transcription	GM12878-XiMat	blood
37	chr1:112989400-112999200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:112989600-112995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:112989600-112995600	Weak transcription	Small Intestine	intestine
40	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:112990000-112993800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr1:112990000-112996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:112990000-113002800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:112990200-112993200	Strong transcription	HSMM	muscle
45	chr1:112990200-112993800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:112990200-112999000	Weak transcription	HepG2	liver
47	chr1:112990400-113001600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:112990600-112993000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:112990600-112993200	Enhancers	Stomach Mucosa	stomach
50	chr1:112990600-112993200	Strong transcription	HSMMtube	muscle

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