Variant report

Variant	rs59377405
Chromosome Location	chr10:49518011-49518012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49516260..49519086-chr10:49729762..49732585,2	K562	blood:
2	chr10:49517027..49519236-chr10:49642083..49643882,2	K562	blood:
3	chr10:49517657..49518610-chr10:49713350..49714126,2	MCF-7	breast:
4	chr10:49516332..49518147-chr10:49551001..49553402,2	MCF-7	breast:
5	chr10:49517751..49518571-chr10:49540674..49541220,2	MCF-7	breast:
6	chr10:49517538..49519332-chr10:49540338..49542175,2	MCF-7	breast:
7	chr10:49516511..49518164-chr10:49717889..49719391,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	1.00[EUR][1000 genomes]
rs2590379	1.00[EUR][1000 genomes]
rs2590380	1.00[EUR][1000 genomes]
rs2698765	1.00[EUR][1000 genomes]
rs3730154	1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	1.00[EUR][1000 genomes]
rs60467447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343950	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7072065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073628	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293121	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293181	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7901179	1.00[EUR][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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 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	chr10:49515600-49525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:49515600-49541400	Weak transcription	Lung	lung
3	chr10:49515800-49518200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:49515800-49522200	Weak transcription	Aorta	Aorta
5	chr10:49516000-49518200	Enhancers	HSMM	muscle
6	chr10:49516000-49518800	Enhancers	Primary T cells from cord blood	blood
7	chr10:49516000-49518800	Enhancers	Duodenum Mucosa	Duodenum
8	chr10:49516000-49519400	Enhancers	Liver	Liver
9	chr10:49516000-49521000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:49516000-49524600	Weak transcription	Stomach Mucosa	stomach
11	chr10:49516000-49525400	Weak transcription	Left Ventricle	heart
12	chr10:49516000-49525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:49516000-49525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:49516200-49524400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:49516400-49518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:49516400-49518200	Enhancers	NHDF-Ad	bronchial
17	chr10:49516400-49518400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:49516400-49518400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:49516400-49518400	Enhancers	HUVEC	blood vessel
20	chr10:49516400-49518600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:49516400-49519000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:49516400-49519600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr10:49516400-49519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:49516400-49521800	Weak transcription	Right Ventricle	heart
25	chr10:49516400-49525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:49516400-49525600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:49516400-49525600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:49516400-49525600	Weak transcription	Brain Anterior Caudate	brain
29	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
30	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
36	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:49516600-49518200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:49516600-49518200	Genic enhancers	K562	blood
40	chr10:49516600-49518200	Enhancers	NHLF	lung
41	chr10:49516600-49518400	Weak transcription	Ovary	ovary
42	chr10:49516600-49519200	Enhancers	Small Intestine	intestine
43	chr10:49516600-49519800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:49516600-49520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:49516600-49525200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:49516600-49525400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
49	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach

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