Variant report

Variant	rs10046592
Chromosome Location	chr7:111927728-111927729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111917890..111921160-chr7:111924295..111928028,4	K562	blood:
2	chr7:111926950..111929480-chr7:112089962..112091558,2	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10234476	1.00[AMR][1000 genomes]
rs10249078	1.00[AMR][1000 genomes]
rs10249415	1.00[AMR][1000 genomes]
rs10253368	1.00[AMR][1000 genomes]
rs10254579	1.00[AMR][1000 genomes]
rs10480693	1.00[AMR][1000 genomes]
rs28451586	1.00[AMR][1000 genomes]
rs28524708	1.00[AMR][1000 genomes]
rs28595023	1.00[AMR][1000 genomes]
rs28680606	1.00[AMR][1000 genomes]
rs3095058	1.00[AMR][1000 genomes]
rs3109104	1.00[AMR][1000 genomes]
rs3109115	1.00[AMR][1000 genomes]
rs3128393	1.00[AMR][1000 genomes]
rs3128394	1.00[AMR][1000 genomes]
rs3128396	1.00[AMR][1000 genomes]
rs3128397	1.00[AMR][1000 genomes]
rs6466403	1.00[AMR][1000 genomes]
rs9656191	1.00[AMR][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	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111907400-111928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:111913600-111929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
8	chr7:111919200-111928000	Weak transcription	Left Ventricle	heart
9	chr7:111920600-111929600	Weak transcription	NHDF-Ad	bronchial
10	chr7:111920600-111942200	Weak transcription	HepG2	liver
11	chr7:111921200-111929400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:111921200-111937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:111922400-111949800	Weak transcription	Ovary	ovary
16	chr7:111922800-111930200	Weak transcription	A549	lung
17	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
18	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
20	chr7:111923600-111964800	Weak transcription	Gastric	stomach
21	chr7:111925000-111927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:111925400-111928000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr7:111925600-111928000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:111925600-111928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:111925800-111928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:111926000-111929000	Enhancers	Fetal Brain Male	brain
27	chr7:111926200-111928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
29	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:111926400-111928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:111926400-111928000	Weak transcription	Liver	Liver
32	chr7:111926400-111928000	Weak transcription	Fetal Intestine Large	intestine
33	chr7:111926400-111928200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:111926400-111928400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:111926400-111929000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:111926600-111928000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:111926600-111928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:111926600-111928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:111926600-111928400	Weak transcription	Primary B cells from cord blood	blood
40	chr7:111926600-111928400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:111926600-111928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:111926600-111929600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:111926600-111929600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:111926600-111932000	Weak transcription	Psoas Muscle	Psoas
45	chr7:111926600-111932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:111926600-111937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:111926600-111938000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:111926600-111938000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:111926600-111938600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:111926600-111942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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